#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_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCA3	21	genome.wustl.edu	37	16	2336799	2336799	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:2336799G>A	ENST00000301732.5	-	22	3874	c.3174C>T	c.(3172-3174)gaC>gaT	p.D1058D	ABCA3_ENST00000382381.3_Silent_p.D1000D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1058					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	ACAGAAGGTTGTCCACGACGG	0.622																																																	0													125.0	125.0	125.0					16																	2336799		2198	4300	6498	SO:0001819	synonymous_variant	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3174C>T	16.37:g.2336799G>A			B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D1058	ENST00000301732.5	37	c.3174	CCDS10466.1	16																																																																																			ABCA3	-	NULL	ENSG00000167972		0.622	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2		0.00	69	0	G	NM_001089		2336799	-1			no_errors	ENST00000301732	ensembl	human	known	74_37	silent	5.26	71	4	SNP	1.000	A
ABCB11	8647	genome.wustl.edu	37	2	169842731	169842731	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:169842731G>T	ENST00000263817.6	-	10	1096	c.972C>A	c.(970-972)ttC>ttA	p.F324L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	324	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATCCAGTAAAGAATCCCATCA	0.438																																																	0													156.0	148.0	151.0					2																	169842731		1914	4125	6039	SO:0001583	missense	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.972C>A	2.37:g.169842731G>T	ENSP00000263817:p.Phe324Leu		Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.F324L	ENST00000263817.6	37	c.972	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	7.813	0.716159	0.15306	.	.	ENSG00000073734	ENST00000263817	D	0.87729	-2.29	5.52	2.46	0.29980	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.141663	0.64402	N	0.000005	T	0.69744	0.3145	N	0.08118	0	0.48901	D	0.999726	B	0.06786	0.001	B	0.15870	0.014	T	0.56980	-0.7889	10	0.18276	T	0.48	.	7.4027	0.26973	0.1407:0.0:0.5359:0.3234	.	324	O95342	ABCBB_HUMAN	L	324	ENSP00000263817:F324L	ENSP00000263817:F324L	F	-	3	2	ABCB11	169550977	0.998000	0.40836	1.000000	0.80357	0.928000	0.56348	0.506000	0.22658	0.740000	0.32651	0.557000	0.71058	TTC	ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000073734		0.438	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2		0.00	59	0	G	NM_003742		169842731	-1			no_errors	ENST00000263817	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.998	T
ABCB6	10058	genome.wustl.edu	37	2	220077768	220077768	+	Missense_Mutation	SNP	C	C	T	rs374541848		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:220077768C>T	ENST00000265316.3	-	13	2141	c.1825G>A	c.(1825-1827)Gtg>Atg	p.V609M	ABCB6_ENST00000439002.2_Missense_Mutation_p.V563M	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	609	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.V609L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGAAAGACACGTCCTGCAGA	0.612																																																	1	Substitution - Missense(1)	lung(1)						C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	66.0	59.0	61.0		1825	2.7	1.0	2		61	0,8600		0,0,4300	no	missense	ABCB6	NM_005689.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	609/843	220077768	1,13005	2203	4300	6503	SO:0001583	missense	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1825G>A	2.37:g.220077768C>T	ENSP00000265316:p.Val609Met		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V609M	ENST00000265316.3	37	c.1825	CCDS2436.1	2	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462198	0.43736	2.27E-4	0.0	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.95103	-3.61;-3.61	4.69	2.72	0.32119	ABC transporter-like (1);	0.275149	0.35096	N	0.003460	D	0.96765	0.8944	M	0.88570	2.965	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.68765	0.96;0.913	D	0.96132	0.9093	10	0.72032	D	0.01	-13.9337	8.5064	0.33190	0.0:0.7262:0.0:0.2738	.	563;609	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	M	609;563	ENSP00000265316:V609M;ENSP00000394333:V563M	ENSP00000265316:V609M	V	-	1	0	ABCB6	219786012	0.191000	0.23288	0.993000	0.49108	0.873000	0.50193	0.584000	0.23864	1.184000	0.42957	0.655000	0.94253	GTG	ABCB6	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000115657		0.612	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2		0.00	45	0	C	NM_005689		220077768	-1			no_errors	ENST00000265316	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.716	T
ABCC13	150000	genome.wustl.edu	37	21	15659985	15659985	+	RNA	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr21:15659985A>C	ENST00000482980.1	+	0	536							Q9NSE7	ABCCD_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene							integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)										GGAGAAAGGAAGTTTTAAGGA	0.353																																					Ovarian(111;916 1572 1777 20423 38208)												0																																												0			AF418600		21q11.2	2012-03-14	2010-04-29		ENSG00000243064	ENSG00000243064		"""ATP binding cassette transporters / subfamily C"""	16022	pseudogene	pseudogene		608835	"""ATP-binding cassette, sub-family C (CFTR/MRP), member 13"""			10049586	Standard	NR_003087		Approved	PRED6, C21orf73	uc002yjr.3	Q9NSE7	OTTHUMG00000074257		21.37:g.15659985A>C			Q8N6A4|Q8N6A5	RNA	SNP	-	NULL	ENST00000482980.1	37	NULL		21																																																																																			ABCC13	-	-	ENSG00000243064		0.353	ABCC13-004	KNOWN	non_canonical_polymorphism|basic	processed_transcript	ABCC13	HGNC	pseudogene	OTTHUMT00000157809.3	-	0.00	58	0	A			15659985	+1	tier1	-	no_errors	ENST00000482980	ensembl	human	known	74_37	rna	42.62	35	26	SNP	0.993	C
ACSL1	2180	genome.wustl.edu	37	4	185683562	185683562	+	Splice_Site	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:185683562G>T	ENST00000515030.1	-	17	1962	c.1637C>A	c.(1636-1638)cCa>cAa	p.P546Q	ACSL1_ENST00000513317.1_Splice_Site_p.P546Q|ACSL1_ENST00000437665.3_Splice_Site_p.P375Q|ACSL1_ENST00000507295.1_Splice_Site_p.P512Q|ACSL1_ENST00000454703.2_Splice_Site_p.P375Q|ACSL1_ENST00000281455.2_Splice_Site_p.P546Q|ACSL1_ENST00000504342.1_Splice_Site_p.P546Q			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	546					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCAACTTACTGGTAACCATTT	0.498																																																	0													174.0	147.0	156.0					4																	185683562		2203	4300	6503	SO:0001630	splice_region_variant	0			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1638+1C>A	4.37:g.185683562G>T			B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.P546Q	ENST00000515030.1	37	c.1637	CCDS3839.1	4	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663720	0.88251	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68;2.68;2.68	5.45	5.45	0.79879	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	M	0.77820	2.39	0.80722	D	1	P;P;P;P	0.50369	0.784;0.934;0.832;0.799	P;P;P;P	0.54889	0.763;0.612;0.612;0.477	T	0.07028	-1.0794	10	0.56958	D	0.05	-11.3029	19.2917	0.94102	0.0:0.0:1.0:0.0	.	512;546;546;536	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	Q	375;546;142;546;512;375;546;546	ENSP00000407165:P375Q;ENSP00000422607:P546Q;ENSP00000425098:P142Q;ENSP00000281455:P546Q;ENSP00000426244:P512Q;ENSP00000405687:P375Q;ENSP00000425006:P546Q;ENSP00000426150:P546Q	ENSP00000281455:P546Q	P	-	2	0	ACSL1	185920556	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.695000	0.98691	2.549000	0.85964	0.655000	0.94253	CCA	ACSL1	-	pfam_AMP-dep_Synth/Lig	ENSG00000151726		0.498	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACSL1	HGNC	protein_coding	OTTHUMT00000361112.2		0.00	67	0	G	NM_001995	Missense_Mutation	185683562	-1			no_errors	ENST00000281455	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
ADAMTS9	56999	genome.wustl.edu	37	3	64599178	64599178	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:64599178A>C	ENST00000498707.1	-	22	3539	c.3197T>G	c.(3196-3198)gTc>gGc	p.V1066G	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V1038G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1066	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCACAGGTGACCAAGCACTG	0.458																																																	0													64.0	60.0	61.0					3																	64599178		2203	4300	6503	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3197T>G	3.37:g.64599178A>C	ENSP00000418735:p.Val1066Gly		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V1066G	ENST00000498707.1	37	c.3197	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.087436|4.087436	0.76642|0.76642	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.64991	.|-0.13;-0.13	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.82148|0.82148	0.4974|0.4974	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;D	.|0.91635	.|0.997;0.999;0.995	D|D	0.85269|0.85269	0.1055|0.1055	5|10	.|0.72032	.|D	.|0.01	.|.	16.3043|16.3043	0.82842|0.82842	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1038;1066;1066	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	A|G	122|1038;1066	.|ENSP00000295903:V1038G;ENSP00000418735:V1066G	.|ENSP00000295903:V1038G	S|V	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64574218|64574218	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.849000|0.849000	0.48306|0.48306	8.957000|8.957000	0.93082|0.93082	2.231000|2.231000	0.72958|0.72958	0.533000|0.533000	0.62120|0.62120	TCA|GTC	ADAMTS9	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.458	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0.00	77	0	A			64599178	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	missense	38.89	22	14	SNP	1.000	C
ADCY6	112	genome.wustl.edu	37	12	49176989	49176989	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:49176989C>T	ENST00000307885.4	-	1	923	c.229G>A	c.(229-231)Ggc>Agc	p.G77S	ADCY6_ENST00000550422.1_Missense_Mutation_p.G77S|ADCY6_ENST00000357869.3_Missense_Mutation_p.G77S	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	77					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|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)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TTGCCCTTGCCTGGGCCGCCC	0.726																																																	0													24.0	28.0	27.0					12																	49176989		2186	4261	6447	SO:0001583	missense	0				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.229G>A	12.37:g.49176989C>T	ENSP00000311405:p.Gly77Ser		Q9NR75|Q9UDB0	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G77S	ENST00000307885.4	37	c.229	CCDS8767.1	12	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772254	0.31411	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.78707	-1.18;-1.18;-1.2	5.13	4.24	0.50183	.	0.312597	0.28273	N	0.015960	T	0.67230	0.2871	L	0.50333	1.59	0.37964	D	0.933066	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.60378	-0.7275	10	0.09338	T	0.73	.	9.6029	0.39615	0.0:0.8322:0.0:0.1678	.	77;77	O43306-2;O43306	.;ADCY6_HUMAN	S	77	ENSP00000350536:G77S;ENSP00000446730:G77S;ENSP00000311405:G77S	ENSP00000311405:G77S	G	-	1	0	ADCY6	47463256	0.515000	0.26210	0.921000	0.36526	0.490000	0.33462	3.388000	0.52509	1.392000	0.46585	0.561000	0.74099	GGC	ADCY6	-	NULL	ENSG00000174233		0.726	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	-	0.00	35	0	C	NM_020983		49176989	-1	tier1	-	no_errors	ENST00000307885	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.678	T
ADH7	131	genome.wustl.edu	37	4	100349749	100349749	+	Silent	SNP	C	C	T	rs140030816		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:100349749C>T	ENST00000209665.4	-	3	435	c.195G>A	c.(193-195)gtG>gtA	p.V65V	ADH7_ENST00000437033.2_Silent_p.V53V|ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000476959.1_Silent_p.V73V	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	65					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.V65V(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TTCCTTTTATCACATGGTCAT	0.433																																																	1	Substitution - coding silent(1)	skin(1)											232.0	189.0	203.0					4																	100349749		2203	4300	6503	SO:0001819	synonymous_variant	0			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.195G>A	4.37:g.100349749C>T			A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.V65	ENST00000209665.4	37	c.195	CCDS34034.1	4																																																																																			ADH7	-	pfam_ADH_GroES-like,superfamily_GroES-like	ENSG00000196344		0.433	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding			0.00	52	0	C	NM_000673		100349749	-1			no_errors	ENST00000209665	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.004	T
ALK	238	genome.wustl.edu	37	2	29420535	29420535	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:29420535C>A	ENST00000389048.3	-	27	4852	c.3946G>T	c.(3946-3948)Gga>Tga	p.G1316*	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGCAGCACTCCAAAGGACCTG	0.493			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													78.0	84.0	82.0					2																	29420535		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3946G>T	2.37:g.29420535C>A	ENSP00000373700:p.Gly1316*		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G1316*	ENST00000389048.3	37	c.3946	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	48	14.166717	0.99782	.	.	ENSG00000171094	ENST00000389048	.	.	.	5.8	5.8	0.92144	.	0.000000	0.46145	U	0.000315	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0464	0.97608	0.0:1.0:0.0:0.0	.	.	.	.	X	1316	.	.	G	-	1	0	ALK	29274039	1.000000	0.71417	0.994000	0.49952	0.149000	0.21700	7.818000	0.86416	2.729000	0.93468	0.561000	0.74099	GGA	ALK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000171094		0.493	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1		0.00	32	0	C	NM_004304		29420535	-1			no_errors	ENST00000389048	ensembl	human	known	74_37	nonsense	11.90	37	5	SNP	1.000	A
ALK	238	genome.wustl.edu	37	2	29451833	29451833	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:29451833T>C	ENST00000389048.3	-	16	3638	c.2732A>G	c.(2731-2733)aAg>aGg	p.K911R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	911	Gly-rich.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CCCCCACTTCTTCATGGCCTG	0.587			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													29.0	29.0	29.0					2																	29451833		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2732A>G	2.37:g.29451833T>C	ENSP00000373700:p.Lys911Arg		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K911R	ENST00000389048.3	37	c.2732	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	T	15.80	2.941436	0.53079	.	.	ENSG00000171094	ENST00000389048	T	0.46063	0.88	5.36	5.36	0.76844	.	0.000000	0.50627	D	0.000116	T	0.40619	0.1124	L	0.50333	1.59	0.80722	D	1	B	0.22276	0.067	B	0.28638	0.092	T	0.20140	-1.0284	9	.	.	.	.	15.3672	0.74531	0.0:0.0:0.0:1.0	.	911	Q9UM73	ALK_HUMAN	R	911	ENSP00000373700:K911R	.	K	-	2	0	ALK	29305337	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.588000	0.60999	2.030000	0.59900	0.459000	0.35465	AAG	ALK	-	NULL	ENSG00000171094		0.587	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	-	0.00	107	0	T	NM_004304		29451833	-1	tier1	-	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	22.78	61	18	SNP	1.000	C
ALPK3	57538	genome.wustl.edu	37	15	85401174	85401174	+	Missense_Mutation	SNP	C	C	T	rs569892880		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:85401174C>T	ENST00000258888.5	+	6	3978	c.3811C>T	c.(3811-3813)Ctc>Ttc	p.L1271F		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1271					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCCAGCTCCCTCACTGTCCC	0.687																																																	0													17.0	14.0	15.0					15																	85401174		2196	4282	6478	SO:0001583	missense	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3811C>T	15.37:g.85401174C>T	ENSP00000258888:p.Leu1271Phe		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.L1271F	ENST00000258888.5	37	c.3811	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216802	0.39201	.	.	ENSG00000136383	ENST00000258888	T	0.70282	-0.47	5.42	4.48	0.54585	.	0.437381	0.20579	N	0.089574	T	0.74772	0.3760	L	0.36672	1.1	0.25494	N	0.987616	D	0.76494	0.999	D	0.63597	0.916	T	0.67067	-0.5764	10	0.62326	D	0.03	-7.6528	12.0347	0.53418	0.0:0.826:0.174:0.0	.	1271	Q96L96	ALPK3_HUMAN	F	1271	ENSP00000258888:L1271F	ENSP00000258888:L1271F	L	+	1	0	ALPK3	83202178	0.793000	0.28825	0.557000	0.28306	0.097000	0.18754	3.341000	0.52151	1.243000	0.43853	0.563000	0.77884	CTC	ALPK3	-	NULL	ENSG00000136383		0.687	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0.00	104	0	C	NM_020778		85401174	+1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	13.33	65	10	SNP	0.677	T
ALS2CR11	151254	genome.wustl.edu	37	2	202352531	202352531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:202352531G>T	ENST00000286195.3	-	15	1720	c.1676C>A	c.(1675-1677)tCa>tAa	p.S559*	ALS2CR11_ENST00000482942.1_5'UTR|ALS2CR11_ENST00000439140.1_Nonsense_Mutation_p.S1756*|ALS2CR11_ENST00000439802.1_3'UTR	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	559										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GATATCATCTGAGCTTTTTCC	0.373																																																	0													265.0	254.0	258.0					2																	202352531		2203	4300	6503	SO:0001587	stop_gained	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1676C>A	2.37:g.202352531G>T	ENSP00000286195:p.Ser559*		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Nonsense_Mutation	SNP	superfamily_C2_dom	p.S559*	ENST00000286195.3	37	c.1676	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.520160	0.97633	.	.	ENSG00000155754	ENST00000286195;ENST00000439140	.	.	.	4.92	4.92	0.64577	.	0.702625	0.12435	N	0.469185	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	13.4802	0.61332	0.0:0.0:1.0:0.0	.	.	.	.	X	559;1756	.	ENSP00000286195:S559X	S	-	2	0	ALS2CR11	202060776	0.224000	0.23674	0.104000	0.21259	0.097000	0.18754	4.638000	0.61353	2.542000	0.85734	0.650000	0.86243	TCA	ALS2CR11	-	NULL	ENSG00000155754		0.373	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	-	0.00	87	0	G	NM_152525		202352531	-1	tier1	-	no_errors	ENST00000286195	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	0.126	T
AMPD1	270	genome.wustl.edu	37	1	115229428	115229428	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:115229428G>T	ENST00000520113.2	-	4	433	c.418C>A	c.(418-420)Cca>Aca	p.P140T	AMPD1_ENST00000369538.3_Missense_Mutation_p.P136T|AMPD1_ENST00000353928.6_Missense_Mutation_p.P107T			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	140					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGGTAGGTTGGAGATGAGGAA	0.463																																																	0													207.0	187.0	194.0					1																	115229428		2203	4300	6503	SO:0001583	missense	0			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.418C>A	1.37:g.115229428G>T	ENSP00000430075:p.Pro140Thr		A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.P140T	ENST00000520113.2	37	c.418	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749172	0.49257	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.37752	1.18;1.18;1.18	5.32	4.38	0.52667	.	0.165143	0.56097	D	0.000040	T	0.25082	0.0609	M	0.80183	2.485	0.58432	D	0.999993	B;B	0.18968	0.032;0.001	B;B	0.17433	0.018;0.008	T	0.11275	-1.0594	10	0.37606	T	0.19	-3.3769	11.5027	0.50448	0.0:0.1358:0.7231:0.1411	.	136;107	Q5TF02;P23109	.;AMPD1_HUMAN	T	140;136;107	ENSP00000430075:P140T;ENSP00000358551:P136T;ENSP00000316520:P107T	ENSP00000316520:P107T	P	-	1	0	AMPD1	115030951	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.991000	0.49409	1.206000	0.43276	0.563000	0.77884	CCA	AMPD1	-	pirsf_AMP_deaminase	ENSG00000116748		0.463	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4		0.00	90	0	G			115229428	-1			no_errors	ENST00000520113	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T
ANGPTL2	23452	genome.wustl.edu	37	9	129870853	129870853	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:129870853T>A	ENST00000373425.3	-	2	775	c.158A>T	c.(157-159)aAg>aTg	p.K53M	RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000373434.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	53					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GTAGGTGCACTTGTCCTGGGA	0.587																																																	0													78.0	61.0	67.0					9																	129870853		2203	4300	6503	SO:0001583	missense	0			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.158A>T	9.37:g.129870853T>A	ENSP00000362524:p.Lys53Met		Q5JT58|Q8NCH7	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.K53M	ENST00000373425.3	37	c.158	CCDS6868.1	9	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439927	0.83885	.	.	ENSG00000136859	ENST00000373425	T	0.59906	0.23	5.11	5.11	0.69529	.	0.214552	0.47455	D	0.000223	T	0.74099	0.3672	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.77928	-0.2404	10	0.87932	D	0	.	14.922	0.70847	0.0:0.0:0.0:1.0	.	53	Q9UKU9	ANGL2_HUMAN	M	53	ENSP00000362524:K53M	ENSP00000362524:K53M	K	-	2	0	ANGPTL2	128910674	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	1.927000	0.55829	0.533000	0.62120	AAG	ANGPTL2	-	NULL	ENSG00000136859		0.587	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL2	HGNC	protein_coding	OTTHUMT00000054129.1	-	0.00	46	0	T	NM_012098		129870853	-1	tier1	-	no_errors	ENST00000373425	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	A
ANKRD28	23243	genome.wustl.edu	37	3	15765924	15765924	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:15765924T>C	ENST00000399451.2	-	7	1025	c.658A>G	c.(658-660)Agc>Ggc	p.S220G	ANKRD28_ENST00000383777.1_Missense_Mutation_p.S253G|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	220						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTGACTACGCTGATCATTCCA	0.363																																																	0													55.0	52.0	53.0					3																	15765924		1941	4137	6078	SO:0001583	missense	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.658A>G	3.37:g.15765924T>C	ENSP00000382379:p.Ser220Gly		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S253G	ENST00000399451.2	37	c.757	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494915	0.64186	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.65178	-0.14;-0.14;-0.14	5.68	5.68	0.88126	Ankyrin repeat-containing domain (4);	0.044918	0.85682	D	0.000000	T	0.49372	0.1553	N	0.16233	0.39	0.58432	D	0.999997	P;B;P	0.42692	0.787;0.289;0.617	B;B;B	0.39876	0.312;0.037;0.309	T	0.57464	-0.7807	10	0.66056	D	0.02	.	15.9399	0.79745	0.0:0.0:0.0:1.0	.	253;250;220	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	G	220;253;220	ENSP00000382379:S220G;ENSP00000373287:S253G;ENSP00000397341:S220G	ENSP00000373287:S253G	S	-	1	0	ANKRD28	15740928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.147000	0.58078	2.164000	0.68074	0.528000	0.53228	AGC	ANKRD28	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.363	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	-	0.00	58	0	T	NM_015199		15765924	-1	tier1	-	no_errors	ENST00000383777	ensembl	human	known	74_37	missense	37.04	17	10	SNP	1.000	C
ANKRD36BP2	645784	genome.wustl.edu	37	2	89104066	89104066	+	RNA	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:89104066T>G	ENST00000393525.3	+	0	4540									ankyrin repeat domain 36B pseudogene 2																		TATGTCTTTGTGAAGCCGAAA	0.274																																																	0																																												0					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89104066T>G				RNA	SNP	-	NULL	ENST00000393525.3	37	NULL		2																																																																																			ANKRD36BP2	-	-	ENSG00000230006		0.274	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	HGNC	pseudogene	OTTHUMT00000323523.1	-	0.00	180	0	T			89104066	+1	tier1	-	no_errors	ENST00000393525	ensembl	human	known	74_37	rna	20.20	162	41	SNP	0.005	G
ANP32A	8125	genome.wustl.edu	37	15	69080148	69080148	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:69080148G>A	ENST00000465139.2	-	2	308	c.165C>T	c.(163-165)acC>acT	p.T55T	ANP32A_ENST00000560303.1_Silent_p.T55T|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	55					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						TTGCGATTGAGGTGAGGCCTA	0.458																																																	0													140.0	141.0	140.0					15																	69080148		2200	4298	6498	SO:0001819	synonymous_variant	0			AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.165C>T	15.37:g.69080148G>A			B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Silent	SNP	pfam_Leu-rich_rpt,smart_U2A'_phosphoprotein32A_C	p.T55	ENST00000465139.2	37	c.165	CCDS45292.1	15																																																																																			ANP32A	-	NULL	ENSG00000140350		0.458	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32A	HGNC	protein_coding	OTTHUMT00000335525.2	-	0.00	81	0	G			69080148	-1	tier1	-	no_errors	ENST00000465139	ensembl	human	known	74_37	silent	16.67	65	13	SNP	1.000	A
ANTXR2	118429	genome.wustl.edu	37	4	80905107	80905107	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:80905107C>A	ENST00000307333.7	-	14	1106	c.1104G>T	c.(1102-1104)ttG>ttT	p.L368F	ANTXR2_ENST00000346652.6_Missense_Mutation_p.L265F|ANTXR2_ENST00000404191.1_Missense_Mutation_p.L291F|ANTXR2_ENST00000403729.2_Missense_Mutation_p.L368F	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	368					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TTTTAGTAGGCAAAGGTTCTT	0.323									Juvenile Hyaline Fibromatosis																																								0													79.0	71.0	73.0					4																	80905107		1800	4072	5872	SO:0001583	missense	0	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.1104G>T	4.37:g.80905107C>A	ENSP00000306185:p.Leu368Phe		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A	p.L368F	ENST00000307333.7	37	c.1104	CCDS47086.1	4	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471077	0.43942	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000346652;ENST00000307333	T;T;T;T	0.49720	2.33;0.77;2.29;2.33	5.8	1.51	0.23008	.	0.317702	0.29293	N	0.012573	T	0.62097	0.2400	M	0.76328	2.33	0.80722	D	1	P;D;D	0.89917	0.573;0.999;1.0	B;D;D	0.72338	0.278;0.93;0.977	T	0.58284	-0.7663	10	0.56958	D	0.05	-2.9794	7.6002	0.28071	0.0:0.6123:0.1134:0.2743	.	265;368;368	P58335-2;P58335;P58335-4	.;ANTR2_HUMAN;.	F	368;291;265;368	ENSP00000385575:L368F;ENSP00000384028:L291F;ENSP00000314883:L265F;ENSP00000306185:L368F	ENSP00000306185:L368F	L	-	3	2	ANTXR2	81124131	0.061000	0.20836	0.329000	0.25429	0.768000	0.43524	-0.062000	0.11674	-0.038000	0.13624	0.467000	0.42956	TTG	ANTXR2	-	pirsf_Anthrax_toxin_rcpt	ENSG00000163297		0.323	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	ANTXR2	HGNC	protein_coding	OTTHUMT00000324663.1		0.00	95	0	C	NM_058172		80905107	-1			no_errors	ENST00000307333	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.375	A
AOC1	26	genome.wustl.edu	37	7	150556986	150556986	+	Intron	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:150556986G>A	ENST00000493429.1	+	6	2440				AOC1_ENST00000467291.1_Intron|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Intron|AOC1_ENST00000360937.4_Intron			P19801	AOC1_HUMAN	amine oxidase, copper containing 1						amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GGACTTGTGTgctgggcgcag	0.577																																																	0																																										SO:0001627	intron_variant	0			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1857-603G>A	7.37:g.150556986G>A			C9J690|Q16683|Q16684|Q56II4|Q6GU42	RNA	SNP	-	NULL	ENST00000493429.1	37	NULL	CCDS43679.1	7																																																																																			AOC1	-	-	ENSG00000002726		0.577	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AOC1	HGNC	protein_coding	OTTHUMT00000350628.1	-	0.00	24	0	G	NM_001091		150556986	+1	tier1	-	no_errors	ENST00000480582	ensembl	human	known	74_37	rna	44.44	10	8	SNP	0.008	A
AOC3	8639	genome.wustl.edu	37	17	41006518	41006518	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:41006518C>T	ENST00000308423.2	+	2	1814	c.1654C>T	c.(1654-1656)Ccc>Tcc	p.P552S	AOC3_ENST00000591562.1_Missense_Mutation_p.P9S	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	552					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CATGGCTGTGCCCTGGAGCCC	0.662																																					NSCLC(3;192 220 10664 11501 16477)												0													51.0	46.0	47.0					17																	41006518		2203	4300	6503	SO:0001583	missense	0			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1654C>T	17.37:g.41006518C>T	ENSP00000312326:p.Pro552Ser		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.P552S	ENST00000308423.2	37	c.1654	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248361	0.80024	.	.	ENSG00000131471	ENST00000308423	T	0.03689	3.84	5.32	5.32	0.75619	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	M	0.82323	2.585	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.00565	-1.1668	10	0.54805	T	0.06	.	18.9826	0.92760	0.0:1.0:0.0:0.0	.	552	Q16853	AOC3_HUMAN	S	552	ENSP00000312326:P552S	ENSP00000312326:P552S	P	+	1	0	AOC3	38260044	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.677000	0.68142	2.500000	0.84329	0.563000	0.77884	CCC	AOC3	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000131471		0.662	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1		0.00	95	0	C	NM_003734		41006518	+1			no_errors	ENST00000308423	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
AOX2P	344454	genome.wustl.edu	37	2	201619757	201619758	+	IGR	INS	-	-	TG	rs71022335|rs35856862|rs563268698	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:201619757_201619758insTG								AC007163.3 (19857 upstream) : AOX2P (7272 downstream)																							TCCTTTCAAATtgtgtgtgtgt	0.401																																																	0																																										SO:0001628	intergenic_variant	0																															2.37:g.201619766_201619767dupTG				RNA	INS	-	NULL		37	NULL		2																																																																																			AOX2P	-	-	ENSG00000243478	0	0.401					AOX2P	HGNC				0.00	16	0	-			201619758	+1	tier1		no_errors	ENST00000472376	ensembl	human	known	74_37	rna	20.00	12	3	INS	0.000:0.000	TG
ARPC5	10092	genome.wustl.edu	37	1	183596623	183596623	+	3'UTR	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:183596623C>T	ENST00000359856.6	-	0	566				ARPC5_ENST00000294742.6_3'UTR|ARPC5_ENST00000367534.1_Intron|ARPC5_ENST00000462965.1_5'UTR	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa						actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						GTCTTTGTACCAGCAATTCCC	0.468																																					Melanoma(136;1596 1789 3041 4830 41075)												0													135.0	127.0	130.0					1																	183596623		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"""Actin related protein 2/3 complex subunits"""	708	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p16"""	604227	"""actin related protein 2/3 complex, subunit 5 (16 kD)"""			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.*44G>A	1.37:g.183596623C>T			A6NEC4|Q6PG42	RNA	SNP	-	NULL	ENST00000359856.6	37	NULL	CCDS1357.1	1																																																																																			ARPC5	-	-	ENSG00000162704		0.468	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARPC5	HGNC	protein_coding	OTTHUMT00000085477.1	-	0.00	95	0	C	NM_005717		183596623	-1	tier1	-	no_errors	ENST00000462965	ensembl	human	known	74_37	rna	5.71	66	4	SNP	1.000	T
ARVCF	421	genome.wustl.edu	37	22	19960775	19960775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:19960775delC	ENST00000263207.3	-	14	2596	c.2305delG	c.(2305-2307)gccfs	p.A769fs	ARVCF_ENST00000406522.1_Frame_Shift_Del_p.A700fs|ARVCF_ENST00000406259.1_Frame_Shift_Del_p.A763fs|ARVCF_ENST00000344269.3_Frame_Shift_Del_p.A706fs|ARVCF_ENST00000401994.1_Frame_Shift_Del_p.A706fs	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	769					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCCAGGCAGGCCCCCGGTCGC	0.647																																																	0													27.0	22.0	24.0					22																	19960775		2197	4295	6492	SO:0001589	frameshift_variant	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2305delG	22.37:g.19960775delC	ENSP00000263207:p.Ala769fs		B7WNV2	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A769fs	ENST00000263207.3	37	c.2305	CCDS13771.1	22																																																																																			ARVCF	-	superfamily_ARM-type_fold	ENSG00000099889		0.647	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5		0.00	47	0	C	NM_001670		19960775	-1	tier1		no_errors	ENST00000263207	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.989	-
ASNS	440	genome.wustl.edu	37	7	97493682	97493682	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:97493682G>C	ENST00000394309.3	-	4	847	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V	ASNS_ENST00000394308.3_Missense_Mutation_p.L126V|ASNS_ENST00000175506.4_Missense_Mutation_p.L126V|ASNS_ENST00000437628.1_Missense_Mutation_p.L43V|ASNS_ENST00000444334.1_Missense_Mutation_p.L105V|ASNS_ENST00000422745.1_Missense_Mutation_p.L105V|ASNS_ENST00000455086.1_Missense_Mutation_p.L43V	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	126	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCAGTATCCAGTAAAACAAAT	0.383																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)												0													65.0	58.0	60.0					7																	97493682		2203	4299	6502	SO:0001583	missense	0			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.376C>G	7.37:g.97493682G>C	ENSP00000377846:p.Leu126Val		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.L126V	ENST00000394309.3	37	c.376	CCDS5652.1	7	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278325	0.23307	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334;ENST00000442734;ENST00000437657	T;T;T;T;T;T;T;T	0.42900	1.0;1.0;0.99;1.0;1.0;0.99;1.0;0.96	4.19	4.19	0.49359	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.64402	D	0.000002	T	0.31888	0.0811	L	0.35288	1.05	0.53688	D	0.999979	B	0.23854	0.092	B	0.30316	0.114	T	0.17410	-1.0370	10	0.49607	T	0.09	-11.4343	8.0834	0.30758	0.1093:0.0:0.8907:0.0	.	126	P08243	ASNS_HUMAN	V	126;126;43;126;105;43;105;126;126	ENSP00000175506:L126V;ENSP00000377846:L126V;ENSP00000414379:L43V;ENSP00000377845:L126V;ENSP00000414901:L105V;ENSP00000408472:L43V;ENSP00000406994:L105V;ENSP00000400422:L126V	ENSP00000175506:L126V	L	-	1	2	ASNS	97331618	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	2.718000	0.47236	2.348000	0.79779	0.555000	0.69702	CTG	ASNS	-	pfam_GATase_dom,tigrfam_Asn_synth_AEB	ENSG00000070669		0.383	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	HGNC	protein_coding	OTTHUMT00000333645.1	-	0.00	52	0	G	NM_001673, NM_183356		97493682	-1	tier1	-	no_errors	ENST00000175506	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	C
ATP10A	57194	genome.wustl.edu	37	15	25959376	25959376	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:25959376A>C	ENST00000356865.6	-	10	1900	c.1789T>G	c.(1789-1791)Ttt>Gtt	p.F597V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	597					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTCAGCTCAAACCTCACCCTC	0.612																																																	0													31.0	36.0	34.0					15																	25959376		2191	4288	6479	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1789T>G	15.37:g.25959376A>C	ENSP00000349325:p.Phe597Val		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.F597V	ENST00000356865.6	37	c.1789	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120678	0.37436	.	.	ENSG00000206190	ENST00000356865	T	0.09911	2.93	4.62	3.5	0.40072	HAD-like domain (1);	0.437967	0.28360	N	0.015637	T	0.10637	0.0260	L	0.55481	1.735	0.41301	D	0.987042	B	0.16802	0.019	B	0.16722	0.016	T	0.10382	-1.0632	10	0.17369	T	0.5	-9.208	9.9491	0.41628	0.92:0.0:0.08:0.0	.	597	O60312	AT10A_HUMAN	V	597	ENSP00000349325:F597V	ENSP00000349325:F597V	F	-	1	0	ATP10A	23510469	1.000000	0.71417	0.224000	0.23877	0.935000	0.57460	5.407000	0.66363	0.825000	0.34637	0.533000	0.62120	TTT	ATP10A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.612	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0.00	82	0	A	NM_024490		25959376	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	missense	22.41	45	13	SNP	0.997	C
ATP11B	23200	genome.wustl.edu	37	3	182584151	182584151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:182584151G>A	ENST00000323116.5	+	14	1799	c.1539G>A	c.(1537-1539)tgG>tgA	p.W513*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	513					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATGGTCCCTGGCAATCCAACC	0.433																																																	0													111.0	105.0	107.0					3																	182584151		2203	4300	6503	SO:0001587	stop_gained	0			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1539G>A	3.37:g.182584151G>A	ENSP00000321195:p.Trp513*		Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.W513*	ENST00000323116.5	37	c.1539	CCDS33896.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.574084|8.574084	0.98868|0.98868	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.478199	.|0.25264	.|N	.|0.031922	T|.	0.74076|.	0.3669|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75695|.	-0.3228|.	4|.	.|0.62326	.|D	.|0.03	.|.	14.5144|14.5144	0.67809|0.67809	0.0:0.0:0.8533:0.1467|0.0:0.0:0.8533:0.1467	.|.	.|.	.|.	.|.	D|X	314|513	.|.	.|ENSP00000321195:W513X	G|W	+|+	2|3	0|0	ATP11B|ATP11B	184066845|184066845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	3.112000|3.112000	0.50368|0.50368	2.712000|2.712000	0.92718|0.92718	0.585000|0.585000	0.79938|0.79938	GGC|TGG	ATP11B	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000058063		0.433	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	-	0.00	58	0	G	NM_014616		182584151	+1	tier1	-	no_errors	ENST00000323116	ensembl	human	known	74_37	nonsense	65.91	15	29	SNP	1.000	A
ATP13A2	23400	genome.wustl.edu	37	1	17322367	17322368	+	Intron	INS	-	-	GCCA			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:17322367_17322368insGCCA	ENST00000326735.8	-	15	1576				RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Intron|ATP13A2_ENST00000452699.1_Intron|ATP13A2_ENST00000502860.1_5'UTR			Q9NQ11	AT132_HUMAN	ATPase type 13A2						cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		gacaggacctggcatcctgtgg	0.629																																																	0																																										SO:0001627	intron_variant	0			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1542+102->TGGC	1.37:g.17322367_17322368insGCCA			O75700|Q5JXY1|Q5JXY2|Q6S9Z9	RNA	INS	-	NULL	ENST00000326735.8	37	NULL	CCDS175.1	1																																																																																			ATP13A2	-	-	ENSG00000159363		0.629	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1		0.00	88	0	-	NM_022089		17322368	-1	tier1		no_errors	ENST00000502860	ensembl	human	known	74_37	rna	14.81	46	8	INS	0.000:0.000	GCCA
ATP1A1	476	genome.wustl.edu	37	1	116944182	116944182	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:116944182G>T	ENST00000295598.5	+	21	3108	c.2856G>T	c.(2854-2856)aaG>aaT	p.K952N	ATP1A1_ENST00000537345.1_Missense_Mutation_p.K952N|ATP1A1_ENST00000369496.4_Missense_Mutation_p.K921N	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	952					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TTAGGAACAAGATCTTGATAT	0.393																																																	0													274.0	285.0	282.0					1																	116944182		2203	4300	6503	SO:0001583	missense	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2856G>T	1.37:g.116944182G>T	ENSP00000295598:p.Lys952Asn		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.K952N	ENST00000295598.5	37	c.2856	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766515	0.49574	.	.	ENSG00000163399	ENST00000295598;ENST00000445896;ENST00000537345;ENST00000369496;ENST00000440951	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	5.62	4.71	0.59529	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.89280	0.6670	L	0.39085	1.19	0.80722	D	1	B;B	0.13594	0.003;0.008	B;B	0.17433	0.01;0.018	D	0.86832	0.2011	10	0.45353	T	0.12	.	10.3216	0.43769	0.1519:0.0:0.8481:0.0	.	952;952	F5H3A1;P05023	.;AT1A1_HUMAN	N	952;121;952;921;119	ENSP00000295598:K952N;ENSP00000445306:K952N;ENSP00000358508:K921N;ENSP00000396236:K119N	ENSP00000295598:K952N	K	+	3	2	ATP1A1	116745705	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.314000	0.43743	1.359000	0.45940	0.591000	0.81541	AAG	ATP1A1	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000163399		0.393	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5		0.00	77	0	G	NM_001160233		116944182	+1			no_errors	ENST00000295598	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T
ATRNL1	26033	genome.wustl.edu	37	10	117059700	117059700	+	Silent	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:117059700T>C	ENST00000355044.3	+	16	2698	c.2572T>C	c.(2572-2574)Tta>Cta	p.L858L	ATRNL1_ENST00000303745.7_5'Flank|ATRNL1_ENST00000423111.2_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	858	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTGGCAGGCTTAAAAGCTAA	0.418																																																	0													82.0	80.0	81.0					10																	117059700		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2572T>C	10.37:g.117059700T>C			O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.L858	ENST00000355044.3	37	c.2572	CCDS7592.1	10																																																																																			ATRNL1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000107518		0.418	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0.00	73	0	T	XM_049349		117059700	+1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	silent	28.57	35	14	SNP	0.845	C
ATXN1L	342371	genome.wustl.edu	37	16	71885321	71885321	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:71885321A>G	ENST00000427980.2	+	3	1971	c.1678A>G	c.(1678-1680)Acg>Gcg	p.T560A	ATXN1L_ENST00000569119.1_Intron	NM_001137675.3	NP_001131147.1	P0C7T5	ATX1L_HUMAN	ataxin 1-like	560	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)	4						CCCTGGGCGGACGACACAACT	0.547																																																	0													78.0	88.0	85.0					16																	71885321		692	1591	2283	SO:0001583	missense	0				CCDS45523.1	16q22.2	2014-09-04			ENSG00000224470	ENSG00000224470			33279	protein-coding gene	gene with protein product	"""brother of ataxin 1"""	614301				16121196, 17322884, 21475249	Standard	NM_001137675		Approved	BOAT1	uc002fbd.3	P0C7T5	OTTHUMG00000176872	ENST00000427980.2:c.1678A>G	16.37:g.71885321A>G	ENSP00000415822:p.Thr560Ala			Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.T560A	ENST00000427980.2	37	c.1678	CCDS45523.1	16	.	.	.	.	.	.	.	.	.	.	A	17.84	3.487655	0.64074	.	.	ENSG00000224470	ENST00000427980	T	0.61980	0.06	5.61	5.61	0.85477	Ataxin-1/HBP1 module (AXH) (3);	.	.	.	.	T	0.80287	0.4595	M	0.81802	2.56	0.58432	D	0.999999	D	0.71674	0.998	D	0.80764	0.994	T	0.83174	-0.0092	9	0.87932	D	0	-5.7536	16.1074	0.81234	1.0:0.0:0.0:0.0	.	560	P0C7T5	ATX1L_HUMAN	A	560	ENSP00000415822:T560A	ENSP00000415822:T560A	T	+	1	0	ATXN1L	70442822	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.160000	0.77495	2.276000	0.75962	0.454000	0.30748	ACG	ATXN1L	-	pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	ENSG00000224470		0.547	ATXN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1L	HGNC	protein_coding	OTTHUMT00000434171.1	-	0.00	66	0	A	NM_001137675.2		71885321	+1	tier1	-	no_errors	ENST00000427980	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	G
AVP	551	genome.wustl.edu	37	20	3063287	3063287	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:3063287C>T	ENST00000380293.3	-	3	533	c.484G>A	c.(484-486)Gac>Aac	p.D162N		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	162					cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		CAGTAGGCGTCGGGCTGGGCG	0.756																																																	0													1.0	1.0	1.0					20																	3063287		668	1534	2202	SO:0001583	missense	0			M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"""Endogenous ligands"""	894	protein-coding gene	gene with protein product	"""antidiuretic hormone"", ""neurophysin II"", ""diabetes insipidus"", ""neurohypophyseal"", ""prepro-AVP-NP II"", ""prepro-arginine-vasopressin-neurophysin II"""	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.484G>A	20.37:g.3063287C>T	ENSP00000369647:p.Asp162Asn		A0AV35|O14935	Missense_Mutation	SNP	pfam_Neurhyp_horm,superfamily_Neurhyp_horm,smart_Neurhyp_horm,pirsf_Neurhyp_horm,prints_Neurhyp_horm	p.D162N	ENST00000380293.3	37	c.484	CCDS13045.1	20	.	.	.	.	.	.	.	.	.	.	C	7.444	0.641395	0.14451	.	.	ENSG00000101200	ENST00000380293	D	0.96885	-4.16	3.97	1.93	0.25924	.	.	.	.	.	D	0.86661	0.5986	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75382	-0.3337	9	0.02654	T	1	-29.9254	5.2189	0.15358	0.0:0.6228:0.1793:0.1979	.	162	P01185	NEU2_HUMAN	N	162	ENSP00000369647:D162N	ENSP00000369647:D162N	D	-	1	0	AVP	3011287	0.001000	0.12720	0.003000	0.11579	0.044000	0.14063	-0.205000	0.09411	0.378000	0.24764	0.555000	0.69702	GAC	AVP	-	NULL	ENSG00000101200		0.756	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVP	HGNC	protein_coding	OTTHUMT00000077713.2	-	0.00	26	0	C	NM_000490		3063287	-1	tier1	-	no_errors	ENST00000380293	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.130	T
AZI2	64343	genome.wustl.edu	37	3	28380096	28380096	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:28380096C>T	ENST00000479665.1	-	3	758	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	AZI2_ENST00000457172.1_Missense_Mutation_p.R76Q|AZI2_ENST00000420543.2_Missense_Mutation_p.R76Q|AZI2_ENST00000334100.6_Missense_Mutation_p.R76Q|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	76	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TTCTTCAAATCGAGCTATTAG	0.353																																																	0													93.0	84.0	87.0					3																	28380096		2202	4300	6502	SO:0001583	missense	0			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.227G>A	3.37:g.28380096C>T	ENSP00000419371:p.Arg76Gln		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	NULL	p.R76Q	ENST00000479665.1	37	c.227	CCDS2647.1	3	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563838	0.27915	.	.	ENSG00000163512	ENST00000479665;ENST00000334100;ENST00000420543;ENST00000457172;ENST00000414162;ENST00000415852	.	.	.	5.79	3.98	0.46160	.	0.226600	0.30890	N	0.008668	T	0.27798	0.0684	L	0.41236	1.265	0.23806	N	0.996791	B;B;B;B;B	0.25809	0.135;0.055;0.004;0.032;0.095	B;B;B;B;B	0.18871	0.016;0.014;0.003;0.008;0.023	T	0.20538	-1.0272	9	0.41790	T	0.15	-8.3168	3.1638	0.06529	0.1373:0.5622:0.1495:0.151	.	76;76;76;76;76	Q9H6S1-3;C9JB40;C9JGA2;C9JVK8;Q9H6S1	.;.;.;.;AZI2_HUMAN	Q	76	.	ENSP00000335609:R76Q	R	-	2	0	AZI2	28355100	0.782000	0.28689	0.858000	0.33744	0.967000	0.64934	0.963000	0.29293	0.779000	0.33543	0.655000	0.94253	CGA	AZI2	-	NULL	ENSG00000163512		0.353	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000252998.2	-	0.00	106	0	C	NM_203326		28380096	-1	tier1	-	no_errors	ENST00000479665	ensembl	human	known	74_37	missense	24.00	38	12	SNP	0.446	T
BFAR	51283	genome.wustl.edu	37	16	14738314	14738314	+	Silent	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:14738314C>T	ENST00000261658.2	+	2	388	c.111C>T	c.(109-111)tgC>tgT	p.C37C	BFAR_ENST00000563971.1_Silent_p.C37C|BFAR_ENST00000426842.2_5'UTR|RNU7-125P_ENST00000458760.1_RNA	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	37					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						GCCACTGCTGCTACGACATCC	0.478																																																	0													156.0	148.0	151.0					16																	14738314		2197	4300	6497	SO:0001819	synonymous_variant	0			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.111C>T	16.37:g.14738314C>T			A8K4Z9|B4DUT0|D3DUG8	Silent	SNP	pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.C37	ENST00000261658.2	37	c.111	CCDS10554.1	16																																																																																			BFAR	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000103429		0.478	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFAR	HGNC	protein_coding	OTTHUMT00000252088.1	-	0.00	72	0	C	NM_016561		14738314	+1	tier1	-	no_errors	ENST00000261658	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	T
BRINP1	1620	genome.wustl.edu	37	9	121930039	121930039	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:121930039A>C	ENST00000265922.3	-	8	2070	c.1609T>G	c.(1609-1611)Ttc>Gtc	p.F537V	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	537					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											ATGTGGATGAAGTCCATGCGG	0.557																																																	0																																										SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1609T>G	9.37:g.121930039A>C	ENSP00000265922:p.Phe537Val		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.F537V	ENST00000265922.3	37	c.1609	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	A	12.22	1.871771	0.33069	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.13089	2.62	5.59	5.59	0.84812	.	0.049003	0.85682	D	0.000000	T	0.11196	0.0273	N	0.22421	0.69	0.58432	D	0.999998	B	0.27498	0.18	B	0.24701	0.055	T	0.13548	-1.0505	10	0.33940	T	0.23	-22.7916	15.7644	0.78114	1.0:0.0:0.0:0.0	.	537	O60477	DBC1_HUMAN	V	537	ENSP00000265922:F537V	ENSP00000265922:F537V	F	-	1	0	DBC1	120969860	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.204000	0.95041	2.110000	0.64415	0.533000	0.62120	TTC	BRINP1	-	NULL	ENSG00000078725		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0.00	34	0	A	NM_014618		121930039	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C
BRINP1	1620	genome.wustl.edu	37	9	121930218	121930218	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:121930218A>C	ENST00000265922.3	-	8	1891	c.1430T>G	c.(1429-1431)tTt>tGt	p.F477C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	477					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GTCAGTCTCAAAGCTGATGAA	0.567																																																	0													194.0	148.0	164.0					9																	121930218		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1430T>G	9.37:g.121930218A>C	ENSP00000265922:p.Phe477Cys		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.F477C	ENST00000265922.3	37	c.1430	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595866	0.46318	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.53857	0.6	5.55	5.55	0.83447	.	0.092150	0.85682	D	0.000000	T	0.51363	0.1670	L	0.47190	1.495	0.80722	D	1	P	0.51653	0.947	B	0.44044	0.439	T	0.58047	-0.7705	10	0.87932	D	0	-22.6345	15.6977	0.77512	1.0:0.0:0.0:0.0	.	477	O60477	DBC1_HUMAN	C	477	ENSP00000265922:F477C	ENSP00000265922:F477C	F	-	2	0	DBC1	120970039	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.248000	0.95456	2.101000	0.63845	0.533000	0.62120	TTT	BRINP1	-	NULL	ENSG00000078725		0.567	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0.00	22	0	A	NM_014618		121930218	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	52.38	10	11	SNP	1.000	C
C10orf12	26148	genome.wustl.edu	37	10	98744778	98744778	+	Missense_Mutation	SNP	C	C	T	rs140878269		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:98744778C>T	ENST00000286067.2	+	1	3738	c.3631C>T	c.(3631-3633)Cgg>Tgg	p.R1211W		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1211								p.R1211W(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGGAAAGACTCGGGCCAGACC	0.547																																																	1	Substitution - Missense(1)	skin(1)											49.0	53.0	51.0					10																	98744778		2203	4300	6503	SO:0001583	missense	0			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3631C>T	10.37:g.98744778C>T	ENSP00000286067:p.Arg1211Trp		Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.R1211W	ENST00000286067.2	37	c.3631	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841393	0.32513	.	.	ENSG00000155640	ENST00000286067	T	0.08008	3.14	5.31	0.725	0.18242	.	0.839573	0.09655	U	0.773135	T	0.10423	0.0255	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	P	0.62298	0.9	T	0.32295	-0.9912	10	0.66056	D	0.02	-5.859	4.7926	0.13256	0.222:0.5488:0.0986:0.1306	.	1211	Q8N655	CJ012_HUMAN	W	1211	ENSP00000286067:R1211W	ENSP00000286067:R1211W	R	+	1	2	C10orf12	98734768	0.004000	0.15560	0.003000	0.11579	0.733000	0.41908	1.101000	0.31037	0.229000	0.21039	-0.310000	0.09108	CGG	C10orf12	-	NULL	ENSG00000155640		0.547	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1		0.00	38	0	C	NM_015652		98744778	+1			no_errors	ENST00000286067	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.000	T
PLET1	349633	genome.wustl.edu	37	11	112126167	112126167	+	Silent	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:112126167G>T	ENST00000338832.2	-	2	600	c.330C>A	c.(328-330)gtC>gtA	p.V110V		NM_001145024.1	NP_001138496.1	Q6UQ28	PLET1_HUMAN		110					cell differentiation (GO:0030154)|negative regulation of cell-matrix adhesion (GO:0001953)|positive regulation of cell migration (GO:0030335)|wound healing, spreading of epidermal cells (GO:0035313)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)				endometrium(2)	2						GTGCCTCTAAGACCGTCATGT	0.448																																																	0													197.0	159.0	170.0					11																	112126167		692	1591	2283	SO:0001819	synonymous_variant	0																														ENST00000338832.2:c.330C>A	11.37:g.112126167G>T			Q6UQ24|Q6UQ25|Q6UQ27	Silent	SNP	NULL	p.V110	ENST00000338832.2	37	c.330		11																																																																																			C11orf34	-	NULL	ENSG00000188771		0.448	C11orf34-201	KNOWN	basic|appris_principal	protein_coding	C11orf34	HGNC	protein_coding		-	0.00	97	0	G			112126167	-1	tier1	-	no_errors	ENST00000338832	ensembl	human	known	74_37	silent	21.88	50	14	SNP	0.000	T
CATIP	375307	genome.wustl.edu	37	2	219227598	219227598	+	Silent	SNP	C	C	T	rs200618385		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:219227598C>T	ENST00000289388.3	+	6	632	c.603C>T	c.(601-603)acC>acT	p.T201T	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		201					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTGGACACCGAGGGCAAAC	0.587																																																	0								C		0,4406		0,0,2203	53.0	49.0	50.0		603	-9.4	0.0	2		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C2orf62	NM_198559.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		201/388	219227598	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000289388.3:c.603C>T	2.37:g.219227598C>T				Silent	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.T201	ENST00000289388.3	37	c.603	CCDS2414.1	2																																																																																			C2orf62	-	NULL	ENSG00000158428		0.587	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf62	HGNC	protein_coding	OTTHUMT00000256771.1	-	0.00	62	0	C			219227598	+1	tier1	rs200618385	no_errors	ENST00000289388	ensembl	human	known	74_37	silent	20.00	48	12	SNP	0.008	T
C3orf70	285382	genome.wustl.edu	37	3	184870467	184870467	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:184870467G>T	ENST00000335012.2	-	1	335	c.145C>A	c.(145-147)Cat>Aat	p.H49N		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	49										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CACTTGCCATGGCTGTGCGTG	0.657																																																	0													34.0	29.0	31.0					3																	184870467		2202	4298	6500	SO:0001583	missense	0				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.145C>A	3.37:g.184870467G>T	ENSP00000334974:p.His49Asn		B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.H49N	ENST00000335012.2	37	c.145	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883202	0.91740	.	.	ENSG00000187068	ENST00000335012	.	.	.	3.74	3.74	0.42951	.	0.132195	0.53938	D	0.000057	T	0.63733	0.2536	L	0.27053	0.805	0.80722	D	1	D	0.61080	0.989	D	0.70487	0.969	T	0.69855	-0.5032	9	0.87932	D	0	.	15.3248	0.74150	0.0:0.0:1.0:0.0	.	49	A6NLC5	CC070_HUMAN	N	49	.	ENSP00000334974:H49N	H	-	1	0	C3orf70	186353161	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.776000	0.75023	1.916000	0.55485	0.400000	0.26472	CAT	C3orf70	-	NULL	ENSG00000187068		0.657	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	-	0.00	63	0	G	NM_001025266		184870467	-1	tier1	-	no_errors	ENST00000335012	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
C5orf42	65250	genome.wustl.edu	37	5	37176061	37176061	+	Silent	SNP	C	C	T	rs34161326	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:37176061C>T	ENST00000508244.1	-	30	6021	c.5928G>A	c.(5926-5928)ggG>ggA	p.G1976G	C5orf42_ENST00000425232.2_Silent_p.G1976G|C5orf42_ENST00000274258.7_Silent_p.G856G			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1976						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGTGGTATGCCCAGGATGTG	0.328													C|||	2	0.000399361	0.0	0.0	5008	,	,		19635	0.0		0.002	False		,,,				2504	0.0																0								C		1,4405	2.1+/-5.4	0,1,2202	206.0	219.0	214.0		5928	2.1	0.4	5	dbSNP_126	214	15,8585	13.3+/-46.6	0,15,4285	no	coding-synonymous	C5orf42	NM_023073.3		0,16,6487	TT,TC,CC		0.1744,0.0227,0.123		1976/3198	37176061	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5928G>A	5.37:g.37176061C>T			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	superfamily_Quino_amine_DH_bsu	p.G1976	ENST00000508244.1	37	c.5928	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.328	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1		0.00	84	0	C	NM_023073		37176061	-1			no_errors	ENST00000425232	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.212	T
CACNA1B	774	genome.wustl.edu	37	9	140773593	140773593	+	Silent	SNP	G	G	A	rs199609079		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:140773593G>A	ENST00000371372.1	+	2	517	c.372G>A	c.(370-372)acG>acA	p.T124T	CACNA1B_ENST00000371357.1_Silent_p.T124T|CACNA1B_ENST00000371355.4_Silent_p.T124T|CACNA1B_ENST00000277551.2_Silent_p.T124T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.T124T|RP11-188C12.3_ENST00000371390.1_RNA	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	124					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGACAAAACGCCCATGTCCG	0.607																																																	0													42.0	48.0	46.0					9																	140773593		2139	4256	6395	SO:0001819	synonymous_variant	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.372G>A	9.37:g.140773593G>A			B1AQK5	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.T124	ENST00000371372.1	37	c.372	CCDS59522.1	9																																																																																			CACNA1B	-	NULL	ENSG00000148408		0.607	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	-	0.00	65	0	G	NM_000718		140773593	+1	tier1	-	no_errors	ENST00000371355	ensembl	human	known	74_37	silent	25.45	40	14	SNP	0.754	A
CACNA1F	778	genome.wustl.edu	37	X	49069170	49069170	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:49069170T>C	ENST00000376265.2	-	33	3993	c.3932A>G	c.(3931-3933)gAa>gGa	p.E1311G	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1246G|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1300G	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1311					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGGATCCCTTCACCCTTACT	0.542																																																	0													68.0	59.0	62.0					X																	49069170		2203	4300	6503	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3932A>G	X.37:g.49069170T>C	ENSP00000365441:p.Glu1311Gly		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E1311G	ENST00000376265.2	37	c.3932	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900913	0.72754	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98835	-5.17;-5.17;-5.17	4.75	4.75	0.60458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99174	0.9714	M	0.90705	3.14	0.58432	D	0.999999	D;P	0.89917	1.0;0.901	D;P	0.85130	0.997;0.865	D	0.99418	1.0932	10	0.87932	D	0	.	12.4118	0.55471	0.0:0.0:0.0:1.0	.	1300;1311	F5CIQ9;O60840	.;CAC1F_HUMAN	G	1246;1300;1311	ENSP00000365427:E1246G;ENSP00000321618:E1300G;ENSP00000365441:E1311G	ENSP00000321618:E1300G	E	-	2	0	CACNA1F	48956114	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.982000	0.88131	1.565000	0.49641	0.430000	0.28490	GAA	CACNA1F	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000102001		0.542	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1		0.00	35	0	T	NM_005183		49069170	-1			no_errors	ENST00000376265	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	C
CAPN5	726	genome.wustl.edu	37	11	76834840	76834840	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:76834840A>G	ENST00000278559.3	+	13	2036	c.1847A>G	c.(1846-1848)aAt>aGt	p.N616S	CAPN5_ENST00000456580.2_Missense_Mutation_p.N656S|CAPN5_ENST00000531028.1_3'UTR|CAPN5_ENST00000529629.1_Missense_Mutation_p.N616S	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	616	C2.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGGGACCGAAATAGCCGGCAG	0.617																																																	0													97.0	87.0	90.0					11																	76834840		2200	4292	6492	SO:0001583	missense	0				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1847A>G	11.37:g.76834840A>G	ENSP00000278559:p.Asn616Ser		O00263	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.N616S	ENST00000278559.3	37	c.1847	CCDS8248.1	11	.	.	.	.	.	.	.	.	.	.	A	4.667	0.124096	0.08931	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580	T;T;T	0.70516	-0.49;-0.49;-0.49	5.87	-3.49	0.04724	C2 calcium-dependent membrane targeting (1);	0.619850	0.19260	N	0.118691	T	0.42017	0.1184	N	0.03115	-0.41	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.14699	-1.0463	10	0.34782	T	0.22	.	12.0984	0.53769	0.5279:0.0:0.4721:0.0	.	654;656;656;616	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	S	616;656;616;656	ENSP00000278559:N616S;ENSP00000432332:N616S;ENSP00000409996:N656S	ENSP00000278559:N616S	N	+	2	0	CAPN5	76512488	0.030000	0.19436	0.000000	0.03702	0.056000	0.15407	0.431000	0.21444	-1.095000	0.03050	-0.912000	0.02778	AAT	CAPN5	-	smart_C2_dom	ENSG00000149260		0.617	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN5	HGNC	protein_coding	OTTHUMT00000382564.2	-	0.00	34	0	A	NM_004055		76834840	+1	tier1	-	no_errors	ENST00000278559	ensembl	human	known	74_37	missense	43.75	9	7	SNP	0.163	G
CBFA2T3	863	genome.wustl.edu	37	16	88945691	88945691	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:88945691T>G	ENST00000268679.4	-	11	2045	c.1649A>C	c.(1648-1650)gAg>gCg	p.E550A	RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.E464A|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.E512A|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.E474A|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.E464A|RP11-830F9.5_ENST00000569249.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	550					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCTGGAGTCCTCCTGCTGGTT	0.697			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	0													62.0	68.0	66.0					16																	88945691		2197	4299	6496	SO:0001583	missense	0			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1649A>C	16.37:g.88945691T>G	ENSP00000268679:p.Glu550Ala		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.E550A	ENST00000268679.4	37	c.1649	CCDS10972.1	16	.	.	.	.	.	.	.	.	.	.	T	26.7	4.766921	0.90020	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.82517	2.595	0.80722	D	1	D;D	0.71674	0.998;0.968	D;P	0.77004	0.989;0.888	T	0.72411	-0.4302	10	0.66056	D	0.02	-1.1553	14.1699	0.65503	0.0:0.0:0.0:1.0	.	550;464	O75081;O75081-2	MTG16_HUMAN;.	A	464;550;512;474;464	ENSP00000332122:E464A;ENSP00000268679:E550A;ENSP00000395739:E512A;ENSP00000401254:E474A;ENSP00000353449:E464A	ENSP00000268679:E550A	E	-	2	0	CBFA2T3	87473192	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.660000	0.83776	1.743000	0.51761	0.379000	0.24179	GAG	CBFA2T3	-	NULL	ENSG00000129993		0.697	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	-	0.00	152	0	T	NM_005187		88945691	-1	tier1	-	no_errors	ENST00000268679	ensembl	human	known	74_37	missense	15.23	128	23	SNP	1.000	G
CBX4	8535	genome.wustl.edu	37	17	77808433	77808433	+	Silent	SNP	G	G	A	rs371126696		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:77808433G>A	ENST00000269397.4	-	5	1185	c.1008C>T	c.(1006-1008)agC>agT	p.S336S		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	336	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.S336R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCTGCGGATCGCTAACCCCGG	0.662											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	lung(1)						G		1,4405		0,1,2202	23.0	23.0	23.0		1008	-6.3	0.0	17		23	0,8600		0,0,4300	no	coding-synonymous	CBX4	NM_003655.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		336/561	77808433	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1008C>T	17.37:g.77808433G>A		1178	B1PJR7|Q6TPI8|Q96C04	Silent	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow	p.S336	ENST00000269397.4	37	c.1008	CCDS32758.1	17																																																																																			CBX4	-	NULL	ENSG00000141582		0.662	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX4	HGNC	protein_coding	OTTHUMT00000318007.1		0.00	16	0	G	NM_003655		77808433	-1			no_errors	ENST00000269397	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.000	A
CCDC112	153733	genome.wustl.edu	37	5	114632127	114632127	+	5'Flank	DEL	T	T	-			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:114632127delT	ENST00000512261.1	-	0	0				CCDC112_ENST00000506442.1_5'UTR|CCDC112_ENST00000395557.4_5'Flank|CCDC112_ENST00000379611.5_Frame_Shift_Del_p.Q39fs|CCDC112_ENST00000503027.1_5'UTR			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112											endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		GATTTACCTGTTGAGGCGCTG	0.751																																																	0													9.0	10.0	10.0					5																	114632127		2115	4172	6287	SO:0001631	upstream_gene_variant	0			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894		5.37:g.114632127delT	Exception_encountered		Q6A334	Frame_Shift_Del	DEL	superfamily_Homeodomain-like	p.Q38fs	ENST00000512261.1	37	c.114	CCDS4117.1	5																																																																																			CCDC112	-	NULL	ENSG00000164221		0.751	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	HGNC	protein_coding	OTTHUMT00000370999.1		0.00	23	0	T	NM_152549		114632127	-1	tier1		no_errors	ENST00000379611	ensembl	human	known	74_37	frame_shift_del	25.00	6	2	DEL	1.000	-
CCDC87	55231	genome.wustl.edu	37	11	66360163	66360163	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:66360163G>A	ENST00000333861.3	-	1	391	c.324C>T	c.(322-324)aaC>aaT	p.N108N	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	108					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTTCTGGTTGTTTTTGTGGC	0.612											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													46.0	50.0	49.0					11																	66360163		2200	4295	6495	SO:0001819	synonymous_variant	0			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.324C>T	11.37:g.66360163G>A		1091	Q8NE76	Silent	SNP	pfam_MAP65_Ase1_PRC1	p.N108	ENST00000333861.3	37	c.324	CCDS8145.1	11																																																																																			CCDC87	-	NULL	ENSG00000182791		0.612	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1		0.00	56	0	G	NM_018219		66360163	-1			no_errors	ENST00000333861	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.853	A
CDH18	1016	genome.wustl.edu	37	5	19721575	19721575	+	Splice_Site	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:19721575C>T	ENST00000507958.1	-	7	1514	c.524G>A	c.(523-525)gGt>gAt	p.G175D	CDH18_ENST00000502796.1_Splice_Site_p.G175D|CDH18_ENST00000506372.1_Splice_Site_p.G175D|CDH18_ENST00000274170.4_Splice_Site_p.G175D|CDH18_ENST00000511273.1_Splice_Site_p.G175D|CDH18_ENST00000382275.1_Splice_Site_p.G175D			Q13634	CAD18_HUMAN	cadherin 18, type 2	175	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AACAGAGGTACCTGTGCATTC	0.428																																																	0													122.0	112.0	115.0					5																	19721575		2203	4300	6503	SO:0001630	splice_region_variant	0			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.524-1G>A	5.37:g.19721575C>T			A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G175D	ENST00000507958.1	37	c.524	CCDS3889.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.225626	0.95173	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82986	0.5156	M	0.82433	2.59	0.80722	D	1	P;D	0.71674	0.92;0.998	P;D	0.71184	0.7;0.972	D	0.84133	0.0413	9	.	.	.	.	17.9639	0.89094	0.0:1.0:0.0:0.0	.	175;175	B4DHG6;Q13634	.;CAD18_HUMAN	D	175;175;175;175;175;175;121;175	ENSP00000371710:G175D;ENSP00000425093:G175D;ENSP00000274170:G175D;ENSP00000424931:G175D;ENSP00000422138:G175D;ENSP00000427383:G121D;ENSP00000425854:G175D	.	G	-	2	0	CDH18	19757332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.764000	0.85297	2.571000	0.86741	0.650000	0.86243	GGT	CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000145526		0.428	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	-	0.00	43	0	C	NM_004934	Missense_Mutation	19721575	-1	tier1	-	no_errors	ENST00000274170	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	T
CDH4	1002	genome.wustl.edu	37	20	60427897	60427897	+	Missense_Mutation	SNP	C	C	G	rs555725508		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:60427897C>G	ENST00000360469.5	+	6	908	c.820C>G	c.(820-822)Cgc>Ggc	p.R274G	CDH4_ENST00000543233.1_Missense_Mutation_p.R200G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	274	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.			R -> H (in Ref. 1; AAA35627). {ECO:0000305}.	adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R274C(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GAATGACAACCGCCCTGAGTT	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											215.0	168.0	184.0					20																	60427897		2203	4300	6503	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.820C>G	20.37:g.60427897C>G	ENSP00000353656:p.Arg274Gly		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.R274G	ENST00000360469.5	37	c.820	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916918	0.33815	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.60797	0.16;0.16	4.76	3.74	0.42951	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.050159	0.85682	D	0.000000	T	0.58018	0.2093	M	0.83483	2.645	0.58432	D	0.999999	B	0.28820	0.224	B	0.20767	0.031	T	0.61802	-0.6988	9	.	.	.	.	14.0449	0.64700	0.206:0.794:0.0:0.0	.	274	P55283	CADH4_HUMAN	G	274;182;200	ENSP00000353656:R274G;ENSP00000443301:R200G	.	R	+	1	0	CDH4	59861292	1.000000	0.71417	0.995000	0.50966	0.580000	0.36256	2.065000	0.41442	2.202000	0.70862	0.561000	0.74099	CGC	CDH4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179242		0.567	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0.00	38	0	C	NM_001794		60427897	+1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	10.00	45	5	SNP	0.998	G
CDH4	1002	genome.wustl.edu	37	20	60427900	60427900	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:60427900C>T	ENST00000360469.5	+	6	911	c.823C>T	c.(823-825)Cct>Tct	p.P275S	CDH4_ENST00000543233.1_Missense_Mutation_p.P201S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	275	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGACAACCGCCCTGAGTTCAT	0.572																																																	0													216.0	170.0	186.0					20																	60427900		2203	4300	6503	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.823C>T	20.37:g.60427900C>T	ENSP00000353656:p.Pro275Ser		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.P275S	ENST00000360469.5	37	c.823	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612775	0.66672	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	D;D	0.84800	-1.9;-1.9	4.76	4.76	0.60689	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92951	0.7757	H	0.99922	4.955	0.80722	D	1	P	0.41848	0.763	B	0.37650	0.255	D	0.95798	0.8830	9	.	.	.	.	17.758	0.88455	0.0:1.0:0.0:0.0	.	275	P55283	CADH4_HUMAN	S	275;183;201	ENSP00000353656:P275S;ENSP00000443301:P201S	.	P	+	1	0	CDH4	59861295	1.000000	0.71417	0.802000	0.32245	0.577000	0.36160	7.549000	0.82163	2.202000	0.70862	0.561000	0.74099	CCT	CDH4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179242		0.572	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0.00	38	0	C	NM_001794		60427900	+1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	11.11	48	6	SNP	1.000	T
CDH4	1002	genome.wustl.edu	37	20	60427902	60427902	+	Silent	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:60427902T>C	ENST00000360469.5	+	6	913	c.825T>C	c.(823-825)ccT>ccC	p.P275P	CDH4_ENST00000543233.1_Silent_p.P201P	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	275	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACAACCGCCCTGAGTTCATCA	0.572																																																	0													216.0	171.0	186.0					20																	60427902		2203	4300	6503	SO:0001819	synonymous_variant	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.825T>C	20.37:g.60427902T>C			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.P275	ENST00000360469.5	37	c.825	CCDS13488.1	20																																																																																			CDH4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179242		0.572	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0.00	38	0	T	NM_001794		60427902	+1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	silent	9.43	48	5	SNP	0.652	C
CDH6	1004	genome.wustl.edu	37	5	31318054	31318054	+	Intron	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:31318054C>A	ENST00000265071.2	+	11	2147				CDH6_ENST00000514738.1_Silent_p.S580S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCCTGCCTCCTATCTCCCCA	0.552																																																	0													69.0	70.0	70.0					5																	31318054		2202	4297	6499	SO:0001627	intron_variant	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1882+23C>A	5.37:g.31318054C>A			A8K5H5|Q9BWS0	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S580	ENST00000265071.2	37	c.1740	CCDS3894.1	5																																																																																			CDH6	-	NULL	ENSG00000113361		0.552	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	-	0.00	44	0	C	NM_004932		31318054	+1	tier1	-	no_errors	ENST00000514738	ensembl	human	putative	74_37	silent	32.14	19	9	SNP	0.995	A
CDK12	51755	genome.wustl.edu	37	17	37667841	37667841	+	Missense_Mutation	SNP	G	G	T	rs538308945		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:37667841G>T	ENST00000447079.4	+	8	2759	c.2726G>T	c.(2725-2727)gGa>gTa	p.G909V	CDK12_ENST00000430627.2_Missense_Mutation_p.G909V	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	909	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTACTGCTAGGAGAGGAACGT	0.398			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													119.0	113.0	115.0					17																	37667841		2203	4300	6503	SO:0001583	missense	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2726G>T	17.37:g.37667841G>T	ENSP00000398880:p.Gly909Val		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G909V	ENST00000447079.4	37	c.2726	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796347	0.70567	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.54479	0.57;0.57	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000306	T	0.77665	0.4164	M	0.87328	2.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81739	-0.0795	10	0.87932	D	0	-10.2641	19.1453	0.93463	0.0:0.0:1.0:0.0	.	908;909;909	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	V	909	ENSP00000407720:G909V;ENSP00000398880:G909V	ENSP00000407720:G909V	G	+	2	0	CDK12	34921367	1.000000	0.71417	0.999000	0.59377	0.746000	0.42486	9.686000	0.98664	2.597000	0.87782	0.555000	0.69702	GGA	CDK12	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000167258		0.398	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	-	0.00	53	0	G	NM_016507		37667841	+1	tier1	-	no_errors	ENST00000447079	ensembl	human	known	74_37	missense	92.17	22	259	SNP	1.000	T
CELSR3	1951	genome.wustl.edu	37	3	48690521	48690521	+	Missense_Mutation	SNP	C	C	T	rs146491964		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:48690521C>T	ENST00000164024.4	-	10	5828	c.5548G>A	c.(5548-5550)Gat>Aat	p.D1850N	CELSR3_ENST00000544264.1_Missense_Mutation_p.D1850N	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1850	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCCGCAGATCGTGCCACCGG	0.617																																																	0								C	ASN/ASP	0,4406		0,0,2203	57.0	56.0	56.0		5548	5.3	1.0	3	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR3	NM_001407.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1850/3313	48690521	1,13005	2203	4300	6503	SO:0001583	missense	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5548G>A	3.37:g.48690521C>T	ENSP00000164024:p.Asp1850Asn		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.D1850N	ENST00000164024.4	37	c.5548	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491663	0.84962	0.0	1.16E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.77098	-1.07;-1.07	5.33	5.33	0.75918	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.85570	0.5727	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.79784	0.913;0.993	T	0.81716	-0.0806	9	0.20519	T	0.43	.	19.037	0.92983	0.0:1.0:0.0:0.0	.	1850;1920	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	N	1850	ENSP00000164024:D1850N;ENSP00000445694:D1850N	ENSP00000164024:D1850N	D	-	1	0	CELSR3	48665525	1.000000	0.71417	0.999000	0.59377	0.579000	0.36224	3.573000	0.53856	2.504000	0.84457	0.563000	0.77884	GAT	CELSR3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000008300		0.617	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	-	0.00	72	0	C	NM_001407		48690521	-1	tier1	rs146491964	no_errors	ENST00000544264	ensembl	human	known	74_37	missense	30.77	36	16	SNP	1.000	T
CENPF	1063	genome.wustl.edu	37	1	214803990	214803990	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:214803990G>T	ENST00000366955.3	+	9	1476	c.1308G>T	c.(1306-1308)caG>caT	p.Q436H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACGTCCTGCAGGCTGAACTGG	0.478																																					Colon(80;575 1284 11000 14801 43496)												0													145.0	133.0	137.0					1																	214803990		2203	4300	6503	SO:0001583	missense	0			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1308G>T	1.37:g.214803990G>T	ENSP00000355922:p.Gln436His		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.Q436H	ENST00000366955.3	37	c.1308	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376884	0.61735	.	.	ENSG00000117724	ENST00000366955	T	0.79749	-1.3	5.18	4.25	0.50352	.	0.000000	0.36134	N	0.002771	D	0.87063	0.6084	.	.	.	0.40427	D	0.979905	D	0.89917	1.0	D	0.70487	0.969	D	0.87668	0.2539	9	0.66056	D	0.02	.	9.4897	0.38951	0.2107:0.0:0.7893:0.0	.	436	P49454	CENPF_HUMAN	H	436	ENSP00000355922:Q436H	ENSP00000355922:Q436H	Q	+	3	2	CENPF	212870613	1.000000	0.71417	0.965000	0.40720	0.921000	0.55340	3.451000	0.52964	2.572000	0.86782	0.655000	0.94253	CAG	CENPF	-	NULL	ENSG00000117724		0.478	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1		0.00	32	0	G	NM_016343		214803990	+1			no_errors	ENST00000366955	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.999	T
CERS3	204219	genome.wustl.edu	37	15	100996237	100996237	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:100996237G>A	ENST00000394113.1	-	13	1550	c.860C>T	c.(859-861)aCg>aTg	p.T287M	CERS3_ENST00000538112.2_Missense_Mutation_p.T287M|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Missense_Mutation_p.T287M			Q8IU89	CERS3_HUMAN	ceramide synthase 3	287	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.T287M(1)									CAAGATCAGCGTGCAATATAA	0.368																																																	1	Substitution - Missense(1)	large_intestine(1)											82.0	76.0	78.0					15																	100996237		2203	4300	6503	SO:0001583	missense	0				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.860C>T	15.37:g.100996237G>A	ENSP00000377672:p.Thr287Met		Q8NE64|Q8NEN6	Missense_Mutation	SNP	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeobox_dom	p.T287M	ENST00000394113.1	37	c.860	CCDS10384.1	15	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667684	0.47677	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.85258	-1.96;-1.96	5.66	5.66	0.87406	TRAM/LAG1/CLN8 homology domain (3);	0.223476	0.45126	D	0.000389	D	0.93713	0.7991	M	0.91920	3.255	0.58432	D	0.999997	D	0.89917	1.0	D	0.75484	0.986	D	0.94651	0.7839	10	0.87932	D	0	-16.0042	15.244	0.73493	0.0:0.0:1.0:0.0	.	287	Q8IU89	CERS3_HUMAN	M	287;298;287	ENSP00000284382:T287M;ENSP00000437640:T287M	ENSP00000284382:T287M	T	-	2	0	CERS3	98813760	1.000000	0.71417	0.945000	0.38365	0.076000	0.17211	5.442000	0.66575	2.669000	0.90835	0.655000	0.94253	ACG	CERS3	-	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000154227		0.368	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	CERS3	HGNC	protein_coding	OTTHUMT00000313594.4		0.00	42	0	G	NM_178842		100996237	-1			no_errors	ENST00000284382	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.992	A
CES1	1066	genome.wustl.edu	37	16	55860155	55860155	+	Nonsense_Mutation	SNP	G	G	A	rs5023780	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:55860155G>A	ENST00000361503.4	-	3	440	c.310C>T	c.(310-312)Cga>Tga	p.R104*	CES1_ENST00000422046.2_Nonsense_Mutation_p.R104*|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Nonsense_Mutation_p.R105*			P23141	EST1_HUMAN	carboxylesterase 1	104					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TTCTCCTTTCGGTTTGTAAAT	0.488																																					NSCLC(162;1801 2756 42904 52896)												0								G	stop/ARG,stop/ARG,stop/ARG	0,4396		0,0,2198	137.0	160.0	152.0		310,313,310	-0.6	0.0	16	dbSNP_113	152	2,8598		0,2,4298	yes	stop-gained,stop-gained,stop-gained	CES1	NM_001025194.1,NM_001025195.1,NM_001266.4	,,	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	,,	104/568,105/569,104/567	55860155	2,12994	2198	4300	6498	SO:0001587	stop_gained	0			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.310C>T	16.37:g.55860155G>A	ENSP00000355193:p.Arg104*		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Nonsense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.R105*	ENST00000361503.4	37	c.313	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	18.48	3.632849	0.67015	0.0	2.33E-4	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	.	.	.	4.7	-0.61	0.11604	.	1.181780	0.06388	N	0.716421	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4125	0.11439	0.0:0.2167:0.3971:0.3862	rs5023780;rs5023780	.	.	.	X	105;104;104	.	ENSP00000353720:R105X	R	-	1	2	CES1	54417656	.	.	0.035000	0.18076	0.017000	0.09413	.	.	0.196000	0.20367	-0.755000	0.03482	CGA	CES1	-	pfam_CarbesteraseB	ENSG00000198848		0.488	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	-	0.00	196	0	G	NM_001266		55860155	-1	tier1	rs5023780	no_errors	ENST00000360526	ensembl	human	known	74_37	nonsense	16.75	159	32	SNP	0.000	A
CFDP1	10428	genome.wustl.edu	37	16	75327732	75327732	+	3'UTR	DEL	A	A	-	rs149574560		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:75327732delA	ENST00000283882.3	-	0	1150					NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1						cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						TTCAATGTAGAAAAAAAAAAG	0.303																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"""Bucentaur"", ""centromere protein 29"""	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.*118T>-	16.37:g.75327732delA			O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	RNA	DEL	-	NULL	ENST00000283882.3	37	NULL	CCDS10916.1	16																																																																																			CFDP1	-	-	ENSG00000153774		0.303	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFDP1	HGNC	protein_coding	OTTHUMT00000269031.2		0.00	30	0	A	NM_006324		75327732	-1	tier1		no_errors	ENST00000570103	ensembl	human	known	74_37	rna	12.00	22	3	DEL	0.940	-
CHP2	63928	genome.wustl.edu	37	16	23767039	23767039	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:23767039A>C	ENST00000300113.2	+	2	548	c.125A>C	c.(124-126)aAg>aCg	p.K42T		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	42	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GACAGGAATAAGAAGGGCTAC	0.627																																																	0													58.0	64.0	62.0					16																	23767039		2197	4300	6497	SO:0001583	missense	0				CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.125A>C	16.37:g.23767039A>C	ENSP00000300113:p.Lys42Thr		A8K2I8	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.K42T	ENST00000300113.2	37	c.125	CCDS10617.1	16	.	.	.	.	.	.	.	.	.	.	A	6.465	0.454010	0.12283	.	.	ENSG00000166869	ENST00000300113	T	0.70986	-0.53	4.48	3.39	0.38822	EF-hand-like domain (1);	0.621973	0.15245	N	0.272641	T	0.59514	0.2199	L	0.42245	1.32	0.09310	N	0.999999	B	0.09022	0.002	B	0.13407	0.009	T	0.50398	-0.8833	10	0.40728	T	0.16	-10.1216	6.821	0.23857	0.8934:0.0:0.1066:0.0	.	42	O43745	CHP2_HUMAN	T	42	ENSP00000300113:K42T	ENSP00000300113:K42T	K	+	2	0	AC130454.2	23674540	0.018000	0.18449	0.719000	0.30619	0.469000	0.32828	2.272000	0.43373	0.856000	0.35383	0.383000	0.25322	AAG	CHP2	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000166869		0.627	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP2	HGNC	protein_coding	OTTHUMT00000254498.1	-	0.00	118	0	A	NM_022097		23767039	+1	tier1	-	no_errors	ENST00000300113	ensembl	human	known	74_37	missense	22.37	59	17	SNP	0.306	C
CHRNG	1146	genome.wustl.edu	37	2	233404837	233404837	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:233404837C>T	ENST00000389494.3	+	2	212	c.191C>T	c.(190-192)tCc>tTc	p.S64F	CHRNG_ENST00000389492.3_Missense_Mutation_p.S64F	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	64					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	AACCTCATCTCCCTGGTAAGC	0.632																																																	0													61.0	65.0	64.0					2																	233404837		2203	4300	6503	SO:0001583	missense	0			X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.191C>T	2.37:g.233404837C>T	ENSP00000374145:p.Ser64Phe		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.S64F	ENST00000389494.3	37	c.191	CCDS33400.1	2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330366	0.81690	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	T;T	0.80033	-1.33;-1.33	4.03	4.03	0.46877	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.91216	0.7232	M	0.90542	3.125	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	D	0.93461	0.6810	10	0.87932	D	0	.	16.3399	0.83079	0.0:1.0:0.0:0.0	.	64;64	Q14DU4;P07510	.;ACHG_HUMAN	F	64	ENSP00000374145:S64F;ENSP00000374143:S64F	ENSP00000374143:S64F	S	+	2	0	CHRNG	233113081	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.786000	0.69006	2.073000	0.62155	0.462000	0.41574	TCC	CHRNG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt	ENSG00000196811		0.632	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	HGNC	protein_coding	OTTHUMT00000330743.1	-	0.00	65	0	C	NM_005199		233404837	+1	tier1	-	no_errors	ENST00000389494	ensembl	human	known	74_37	missense	29.17	51	21	SNP	1.000	T
CHST9	83539	genome.wustl.edu	37	18	24496546	24496546	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr18:24496546A>C	ENST00000284224.8	-	6	1286	c.1009T>G	c.(1009-1011)Ttg>Gtg	p.L337V	AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.L337V|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	337					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GAATCCAGCAAGTAGTGGATA	0.398																																																	0													134.0	128.0	130.0					18																	24496546		1900	4114	6014	SO:0001583	missense	0			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1009T>G	18.37:g.24496546A>C	ENSP00000284224:p.Leu337Val		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	pfam_Sulfotransferase	p.L337V	ENST00000284224.8	37	c.1009	CCDS42422.1	18	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057731	0.36277	.	.	ENSG00000154080	ENST00000284224	T	0.73789	-0.78	6.17	1.23	0.21249	.	0.000000	0.53938	D	0.000045	T	0.78960	0.4366	L	0.52364	1.645	0.80722	D	1	P	0.47191	0.891	P	0.61874	0.895	T	0.77590	-0.2531	10	0.87932	D	0	-12.8716	10.4137	0.44309	0.6693:0.0:0.3307:0.0	.	337	Q7L1S5	CHST9_HUMAN	V	337	ENSP00000284224:L337V	ENSP00000284224:L337V	L	-	1	2	CHST9	22750544	0.987000	0.35691	0.999000	0.59377	0.801000	0.45260	0.361000	0.20267	0.194000	0.20326	-0.408000	0.06270	TTG	CHST9	-	pfam_Sulfotransferase	ENSG00000154080		0.398	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST9	HGNC	protein_coding	OTTHUMT00000446549.1	-	0.00	66	0	A	NM_031422		24496546	-1	tier1	-	no_errors	ENST00000284224	ensembl	human	known	74_37	missense	40.38	31	21	SNP	0.996	C
CNTNAP3	79937	genome.wustl.edu	37	9	39171488	39171488	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:39171488G>C	ENST00000297668.6	-	8	1284	c.1211C>G	c.(1210-1212)gCa>gGa	p.A404G	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.A404G|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.A404G|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.A404G|CNTNAP3_ENST00000377653.2_5'Flank|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.A316G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	404	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAAATGTCCTGCTCTGTTCCA	0.507																																																	0													53.0	45.0	48.0					9																	39171488		2203	4300	6503	SO:0001583	missense	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1211C>G	9.37:g.39171488G>C	ENSP00000297668:p.Ala404Gly		B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.A404G	ENST00000297668.6	37	c.1211	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	G	9.400	1.077822	0.20227	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	3.28	0.286	0.15710	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	D	0.82435	0.5036	M	0.79475	2.455	0.24066	N	0.995994	D;B;B;P;B	0.56746	0.977;0.046;0.016;0.766;0.051	D;B;B;P;B	0.62955	0.909;0.097;0.029;0.674;0.155	T	0.68322	-0.5439	9	0.38643	T	0.18	.	3.393	0.07295	0.2216:0.0:0.2966:0.4818	.	404;404;404;404;404	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	G	404;404;316;404;404	ENSP00000297668:A404G;ENSP00000366884:A404G;ENSP00000350863:A316G;ENSP00000320728:A404G;ENSP00000366887:A404G	ENSP00000297668:A404G	A	-	2	0	CNTNAP3	39161488	0.008000	0.16893	0.794000	0.32065	0.714000	0.41099	0.194000	0.17135	0.191000	0.20236	-0.311000	0.09066	GCA	CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.507	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	-	0.00	176	0	G	NM_033655		39171488	-1	tier1	-	no_errors	ENST00000297668	ensembl	human	known	74_37	missense	15.08	167	30	SNP	0.950	C
CPSF3	51692	genome.wustl.edu	37	2	9583646	9583646	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:9583646C>G	ENST00000238112.3	+	10	1304	c.1098C>G	c.(1096-1098)caC>caG	p.H366Q	CPSF3_ENST00000460593.1_Missense_Mutation_p.H329Q	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	366					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTCCACAGCACATCATGTCTG	0.328																																					Colon(194;1259 2048 3845 5218 19985)												0													123.0	124.0	124.0					2																	9583646		2203	4300	6503	SO:0001583	missense	0			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1098C>G	2.37:g.9583646C>G	ENSP00000238112:p.His366Gln		O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.H366Q	ENST00000238112.3	37	c.1098	CCDS1664.1	2	.	.	.	.	.	.	.	.	.	.	C	2.729	-0.264943	0.05754	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000460593	T;T	0.38887	1.11;1.11	5.18	-4.6	0.03390	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	N	0.11201	0.11	0.58432	D	0.999998	B	0.02656	0.0	B	0.10450	0.005	T	0.18587	-1.0332	10	0.11485	T	0.65	-12.7937	15.6873	0.77421	0.0:0.6655:0.0:0.3345	.	366	Q9UKF6	CPSF3_HUMAN	Q	366;88;329	ENSP00000238112:H366Q;ENSP00000418957:H329Q	ENSP00000238112:H366Q	H	+	3	2	CPSF3	9501097	0.998000	0.40836	0.960000	0.40013	0.784000	0.44337	0.555000	0.23422	-0.913000	0.03832	-0.377000	0.06932	CAC	CPSF3	-	pfam_Beta_Casp	ENSG00000119203		0.328	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3	HGNC	protein_coding	OTTHUMT00000206843.1	-	0.00	68	0	C	NM_016207		9583646	+1	tier1	-	no_errors	ENST00000238112	ensembl	human	known	74_37	missense	20.00	44	11	SNP	0.987	G
CSMD1	64478	genome.wustl.edu	37	8	2813255	2813255	+	Missense_Mutation	SNP	C	C	T	rs566623371		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:2813255C>T	ENST00000520002.1	-	65	10408	c.9853G>A	c.(9853-9855)Gcg>Acg	p.A3285T	CSMD1_ENST00000602557.1_Missense_Mutation_p.A3285T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A3284T|CSMD1_ENST00000602723.1_Missense_Mutation_p.A3108T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A3107T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A3108T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3285	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCACATCCGCGTGTGCCGGG	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		18146	0.001		0.0	False		,,,				2504	0.0																0													131.0	130.0	130.0					8																	2813255		1965	4162	6127	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9853G>A	8.37:g.2813255C>T	ENSP00000430733:p.Ala3285Thr		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A3285T	ENST00000520002.1	37	c.9853		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.01|13.01	2.109010|2.109010	0.37242|0.37242	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.46819|.	0.86;0.86;0.86;0.86|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Complement control module (2);Sushi/SCR/CCP (3);|.	0.088045|.	0.48767|.	D|.	0.000178|.	T|T	0.72104|0.72104	0.3419|0.3419	M|M	0.65677|0.65677	2.01|2.01	0.80722|0.80722	D|D	1|1	D;P;P|.	0.89917|.	1.0;0.687;0.492|.	D;P;B|.	0.81914|.	0.995;0.487;0.3|.	T|T	0.70737|0.70737	-0.4790|-0.4790	10|5	0.56958|.	D|.	0.05|.	.|.	14.5429|14.5429	0.68008|0.68008	0.1463:0.8537:0.0:0.0|0.1463:0.8537:0.0:0.0	.|.	3285;3285;3107|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	T|H	3108;3285;3146;3284;3107|2701	ENSP00000383047:A3108T;ENSP00000430733:A3285T;ENSP00000441462:A3284T;ENSP00000446243:A3107T|.	ENSP00000320445:A3146T|.	A|R	-|-	1|2	0|0	CSMD1|CSMD1	2800662|2800662	0.916000|0.916000	0.31088|0.31088	0.157000|0.157000	0.22605|0.22605	0.009000|0.009000	0.06853|0.06853	3.003000|3.003000	0.49505|0.49505	2.656000|2.656000	0.90262|0.90262	0.460000|0.460000	0.39030|0.39030	GCG|CGC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	62	0	C	NM_033225		2813255	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	26.87	49	18	SNP	0.686	T
CSMD2	114784	genome.wustl.edu	37	1	34066300	34066300	+	5'UTR	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:34066300A>G	ENST00000489419.1	-	0	419				CSMD2_ENST00000373388.2_Intron|CSMD2_ENST00000373380.1_Intron|CSMD2_ENST00000373377.1_Intron|CSMD2_ENST00000373381.4_Intron			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGCTCTCACATAGGCTAATA	0.478																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000489419.1:c.-2012T>C	1.37:g.34066300A>G			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	RNA	SNP	-	NULL	ENST00000489419.1	37	NULL		1																																																																																			CSMD2	-	-	ENSG00000121904		0.478	CSMD2-005	KNOWN	basic	processed_transcript	CSMD2	HGNC	protein_coding	OTTHUMT00000036405.1	-	0.00	13	0	A	NM_052896		34066300	-1	tier1	-	no_errors	ENST00000489419	ensembl	human	known	74_37	rna	100.00	0	5	SNP	0.001	G
CST1	1469	genome.wustl.edu	37	20	23728462	23728462	+	Silent	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:23728462T>C	ENST00000304749.2	-	3	487	c.417A>G	c.(415-417)caA>caG	p.Q139Q	CST1_ENST00000398402.1_Silent_p.Q139Q	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	139					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CCTAGGATTCTTGACACCTGG	0.587																																																	0													107.0	92.0	97.0					20																	23728462		2203	4300	6503	SO:0001819	synonymous_variant	0			M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.417A>G	20.37:g.23728462T>C			Q96LE6|Q9UCQ6	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.Q139	ENST00000304749.2	37	c.417	CCDS13160.1	20																																																																																			CST1	-	smart_Prot_inh_cystat	ENSG00000170373		0.587	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST1	HGNC	protein_coding	OTTHUMT00000078351.2	-	0.00	70	0	T	NM_001898		23728462	-1	tier1	-	no_errors	ENST00000304749	ensembl	human	known	74_37	silent	33.33	36	18	SNP	0.001	C
CTNNA2	1496	genome.wustl.edu	37	2	80646693	80646693	+	Silent	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:80646693A>G	ENST00000402739.4	+	8	1262	c.1257A>G	c.(1255-1257)caA>caG	p.Q419Q	CTNNA2_ENST00000343114.3_Silent_p.Q98Q|CTNNA2_ENST00000496558.1_Silent_p.Q419Q|CTNNA2_ENST00000541047.1_Silent_p.Q419Q|CTNNA2_ENST00000540488.1_Silent_p.Q419Q|CTNNA2_ENST00000466387.1_Silent_p.Q419Q|CTNNA2_ENST00000361291.4_Silent_p.Q453Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	419					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AATATGCCCAAGTTTTCCGTG	0.443																																																	0													108.0	107.0	107.0					2																	80646693		2036	4230	6266	SO:0001819	synonymous_variant	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1257A>G	2.37:g.80646693A>G			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.Q453	ENST00000402739.4	37	c.1359		2																																																																																			CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.443	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	-	0.00	62	0	A	NM_004389		80646693	+1	tier1	-	no_errors	ENST00000361291	ensembl	human	known	74_37	silent	26.32	42	15	SNP	0.997	G
CTTNBP2	83992	genome.wustl.edu	37	7	117358157	117358157	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:117358157T>C	ENST00000160373.3	-	22	4752	c.4661A>G	c.(4660-4662)gAt>gGt	p.D1554G		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1554					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTTAAATCATCCCTGGAATC	0.413																																																	0													86.0	78.0	80.0					7																	117358157		2203	4300	6503	SO:0001583	missense	0				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4661A>G	7.37:g.117358157T>C	ENSP00000160373:p.Asp1554Gly		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1554G	ENST00000160373.3	37	c.4661	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089622	0.55968	.	.	ENSG00000077063	ENST00000160373	T	0.72051	-0.62	5.61	4.44	0.53790	.	0.373135	0.32301	N	0.006297	T	0.63260	0.2496	L	0.54323	1.7	0.41002	D	0.984937	P	0.41420	0.749	B	0.37144	0.242	T	0.70342	-0.4898	10	0.87932	D	0	-18.5987	10.5164	0.44892	0.0:0.0753:0.0:0.9247	.	1554	Q8WZ74	CTTB2_HUMAN	G	1554	ENSP00000160373:D1554G	ENSP00000160373:D1554G	D	-	2	0	CTTNBP2	117145393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.375000	0.52410	2.127000	0.65507	0.460000	0.39030	GAT	CTTNBP2	-	NULL	ENSG00000077063		0.413	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	-	0.00	49	0	T	NM_033427		117358157	-1	tier1	-	no_errors	ENST00000160373	ensembl	human	known	74_37	missense	36.67	19	11	SNP	1.000	C
CXCR2P1	3580	genome.wustl.edu	37	2	218925186	218925186	+	RNA	SNP	T	T	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:218925186T>A	ENST00000439871.1	-	0	1194					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		ATGGCAAAACTTCTGGCCAAT	0.527																																																	0																																												0			M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925186T>A				RNA	SNP	-	NULL	ENST00000439871.1	37	NULL		2																																																																																			CXCR2P1	-	-	ENSG00000229754		0.527	CXCR2P1-002	KNOWN	basic	processed_transcript	CXCR2P1	HGNC	pseudogene	OTTHUMT00000338985.1	-	0.00	54	0	T	NR_002712		218925186	-1	tier1	-	no_errors	ENST00000439871	ensembl	human	known	74_37	rna	25.00	45	15	SNP	1.000	A
CYP27B1	1594	genome.wustl.edu	37	12	58160778	58160778	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:58160778C>T	ENST00000228606.4	-	1	256	c.47G>A	c.(46-48)cGc>cAc	p.R16H	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	16					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	GGGCGCCCAGCGGACGCGATG	0.617																																																	0													81.0	97.0	92.0					12																	58160778		2203	4300	6503	SO:0001583	missense	0			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.47G>A	12.37:g.58160778C>T	ENSP00000228606:p.Arg16His		B2RC61|Q548T3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R16H	ENST00000228606.4	37	c.47	CCDS8954.1	12	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487600	0.44249	.	.	ENSG00000111012	ENST00000228606	T	0.77229	-1.08	5.26	-2.42	0.06542	.	0.255560	0.35235	N	0.003359	T	0.49898	0.1584	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30179	-0.9987	10	0.49607	T	0.09	.	4.1659	0.10306	0.3473:0.3885:0.0:0.2642	.	16	O15528	CP27B_HUMAN	H	16	ENSP00000228606:R16H	ENSP00000228606:R16H	R	-	2	0	CYP27B1	56447045	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.647000	0.05397	-0.700000	0.05070	0.655000	0.94253	CGC	CYP27B1	-	NULL	ENSG00000111012		0.617	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27B1	HGNC	protein_coding	OTTHUMT00000409248.1		0.00	82	0	C	NM_000785		58160778	-1			no_errors	ENST00000228606	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.000	T
DCAF4L2	138009	genome.wustl.edu	37	8	88885764	88885764	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:88885764A>G	ENST00000319675.3	-	1	532	c.436T>C	c.(436-438)Ttc>Ctc	p.F146L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	146										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGTCCCACGAAGCACAGCAGA	0.557																																																	0													96.0	90.0	92.0					8																	88885764		2203	4300	6503	SO:0001583	missense	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.436T>C	8.37:g.88885764A>G	ENSP00000316496:p.Phe146Leu			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F146L	ENST00000319675.3	37	c.436	CCDS6245.1	8	.	.	.	.	.	.	.	.	.	.	A	3.291	-0.145020	0.06627	.	.	ENSG00000176566	ENST00000319675	T	0.67345	-0.26	1.68	0.683	0.17998	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.117163	0.64402	N	0.000017	T	0.26304	0.0642	N	0.01624	-0.795	0.20489	N	0.999893	B	0.02656	0.0	B	0.04013	0.001	T	0.31251	-0.9950	10	0.02654	T	1	.	3.8503	0.08953	0.2801:0.0:0.7199:0.0	.	146	Q8NA75	DC4L2_HUMAN	L	146	ENSP00000316496:F146L	ENSP00000316496:F146L	F	-	1	0	DCAF4L2	88954880	1.000000	0.71417	0.037000	0.18230	0.085000	0.17905	2.692000	0.47018	0.011000	0.14865	-0.456000	0.05471	TTC	DCAF4L2	-	superfamily_WD40_repeat_dom	ENSG00000176566		0.557	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	-	0.00	33	0	A	NM_152418		88885764	-1	tier1	-	no_errors	ENST00000319675	ensembl	human	known	74_37	missense	16.33	41	8	SNP	0.811	G
DCDC1	341019	genome.wustl.edu	37	11	30926625	30926625	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:30926625T>G	ENST00000597505.1	-	29	4190	c.4191A>C	c.(4189-4191)caA>caC	p.Q1397H	DCDC1_ENST00000339794.5_Missense_Mutation_p.Q476H|DCDC1_ENST00000406071.2_Missense_Mutation_p.Q132H			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAGATGCAGCTTGCGTGCAGG	0.418																																																	0													141.0	122.0	129.0					11																	30926625		2202	4299	6501	SO:0001583	missense	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4191A>C	11.37:g.30926625T>G	ENSP00000472625:p.Gln1397His		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin	p.Q476H	ENST00000597505.1	37	c.1428		11	.	.	.	.	.	.	.	.	.	.	T	9.701	1.154484	0.21371	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	.	.	.	5.31	1.48	0.22813	Doublecortin domain (1);	1.194200	0.05986	N	0.645191	T	0.32793	0.0841	L	0.45581	1.43	0.09310	N	1	B	0.19817	0.039	B	0.14023	0.01	T	0.24977	-1.0145	9	0.33141	T	0.24	2.6662	2.349	0.04279	0.1417:0.0853:0.3114:0.4616	.	476	Q6ZRR9	DCDC5_HUMAN	H	132;476	.	ENSP00000341700:Q476H	Q	-	3	2	DCDC5	30883201	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.185000	0.09684	0.325000	0.23359	0.533000	0.62120	CAA	DCDC1	-	NULL	ENSG00000170959		0.418	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000463167.1	-	0.00	75	0	T	NM_181807		30926625	-1	tier1	-	no_errors	ENST00000339794	ensembl	human	known	74_37	missense	58.82	21	30	SNP	0.000	G
DCP1B	196513	genome.wustl.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0																8	Substitution - Missense(8)	endometrium(5)|lung(2)|large_intestine(1)											35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	0			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	pfam_DCP1	p.Q252H	ENST00000280665.6	37	c.756	CCDS31727.1	12	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG	DCP1B	-	NULL	ENSG00000151065		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP1B	HGNC	protein_coding	OTTHUMT00000398244.1		0.00	40	0	C	NM_152640		2062350	-1			no_errors	ENST00000280665	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.000	G
DDX11	1663	genome.wustl.edu	37	12	31242027	31242027	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:31242027A>T	ENST00000407793.2	+	7	985	c.734A>T	c.(733-735)gAg>gTg	p.E245V	DDX11_ENST00000542838.1_Missense_Mutation_p.E245V|DDX11_ENST00000228264.6_Missense_Mutation_p.E219V|DDX11_ENST00000350437.4_Missense_Mutation_p.E245V|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.E245V	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	245	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTTGTGCATGAGGTGAAGAAG	0.527										Multiple Myeloma(12;0.14)																																							0													97.0	98.0	98.0					12																	31242027		2203	4298	6501	SO:0001583	missense	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.734A>T	12.37:g.31242027A>T	ENSP00000384703:p.Glu245Val		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.E245V	ENST00000407793.2	37	c.734	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	A	11.93	1.784617	0.31593	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-0.75;-1.22;-1.22	3.64	2.47	0.30058	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.052407	0.85682	D	0.000000	D	0.89441	0.6716	H	0.95470	3.675	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;0.999;0.999	D	0.87739	0.2584	10	0.87932	D	0	.	7.0978	0.25319	0.8861:0.0:0.1139:0.0	.	245;245;245;245	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	V	245;245;219;216;219;245;245	ENSP00000443426:E245V;ENSP00000384703:E245V;ENSP00000228264:E219V;ENSP00000407646:E216V;ENSP00000406457:E219V;ENSP00000440402:E245V;ENSP00000309965:E245V	ENSP00000228264:E219V	E	+	2	0	DDX11	31133294	1.000000	0.71417	0.043000	0.18650	0.048000	0.14542	8.156000	0.89645	0.464000	0.27142	-0.573000	0.04149	GAG	DDX11	-	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000013573		0.527	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	-	0.00	203	0	A	NM_030653		31242027	+1	tier1	-	no_errors	ENST00000407793	ensembl	human	known	74_37	missense	23.90	121	38	SNP	1.000	T
DDX17	10521	genome.wustl.edu	37	22	38894489	38894489	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:38894489C>A	ENST00000396821.3	-	4	727	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	DDX17_ENST00000381633.3_Missense_Mutation_p.D131Y|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	210	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CCCACCATATCCCGGCCACTA	0.443																																					Ovarian(55;1085 1454 6392 21425)												0													124.0	105.0	111.0					22																	38894489		2203	4300	6503	SO:0001583	missense	0			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.628G>T	22.37:g.38894489C>A	ENSP00000380033:p.Asp210Tyr		B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D210Y	ENST00000396821.3	37	c.628	CCDS46706.1	22	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025961	0.93518	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.24723	1.84;1.84;1.84	5.39	5.39	0.77823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72518	0.3470	H	0.99600	4.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85494	0.1187	10	0.87932	D	0	-18.0627	19.5163	0.95167	0.0:1.0:0.0:0.0	.	131;212;210	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	Y	210;131;210;212	ENSP00000380033:D210Y;ENSP00000371046:D131Y;ENSP00000385536:D210Y	ENSP00000371046:D131Y	D	-	1	0	DDX17	37224435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.474000	0.81024	2.683000	0.91414	0.591000	0.81541	GAT	DDX17	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000100201		0.443	DDX17-001	KNOWN	basic|CCDS	protein_coding	DDX17	HGNC	protein_coding	OTTHUMT00000321476.2	-	0.00	61	0	C	NM_030881		38894489	-1	tier1	-	no_errors	ENST00000396821	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A
DDX51	317781	genome.wustl.edu	37	12	132624261	132624261	+	Silent	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:132624261C>T	ENST00000397333.3	-	14	1931	c.1893G>A	c.(1891-1893)cgG>cgA	p.R631R		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	631	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		AGAGCTCGTGCCGCTGCAACT	0.612																																																	0													48.0	54.0	52.0					12																	132624261		2013	4162	6175	SO:0001819	synonymous_variant	0			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1893G>A	12.37:g.132624261C>T			A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R631	ENST00000397333.3	37	c.1893	CCDS41865.1	12																																																																																			DDX51	-	pfscan_Helicase_C	ENSG00000185163		0.612	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	HGNC	protein_coding	OTTHUMT00000398978.1	-	0.00	44	0	C	NM_175066		132624261	-1	tier1	-	no_errors	ENST00000397333	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.985	T
DEC1	50514	genome.wustl.edu	37	9	118163485	118163485	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:118163485C>T	ENST00000374016.1	+	7	620	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	34					negative regulation of cell proliferation (GO:0008285)					kidney(1)|large_intestine(1)|ovary(1)	3						TTTACTGATGCCCTGCACAGA	0.478																																																	0													122.0	124.0	123.0					9																	118163485		2203	4300	6503	SO:0001583	missense	0			AB022761	CCDS6812.1	9q32	2008-02-05			ENSG00000173077	ENSG00000173077			23658	protein-coding gene	gene with protein product		604767				8603412, 10612805	Standard	NM_017418		Approved	CTS9	uc004bjk.1	Q9P2X7	OTTHUMG00000020549	ENST00000374016.1:c.101C>T	9.37:g.118163485C>T	ENSP00000363128:p.Ala34Val			Missense_Mutation	SNP	NULL	p.A34V	ENST00000374016.1	37	c.101	CCDS6812.1	9	.	.	.	.	.	.	.	.	.	.	C	8.018	0.759029	0.15846	.	.	ENSG00000173077	ENST00000374016	T	0.57273	0.41	3.37	-0.185	0.13276	.	.	.	.	.	T	0.34395	0.0896	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.17722	0.019	T	0.36890	-0.9729	8	0.87932	D	0	.	0.2334	0.00183	0.2301:0.1561:0.2358:0.378	.	34	Q9P2X7	DEC1_HUMAN	V	34	ENSP00000363128:A34V	ENSP00000363128:A34V	A	+	2	0	DEC1	117203306	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-0.157000	0.10085	-0.042000	0.13535	0.655000	0.94253	GCC	DEC1	-	NULL	ENSG00000173077		0.478	DEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEC1	HGNC	protein_coding	OTTHUMT00000053791.1	-	0.00	45	0	C	NM_017418		118163485	+1	tier1	-	no_errors	ENST00000374016	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	T
DERL2	51009	genome.wustl.edu	37	17	5389414	5389414	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:5389414G>C	ENST00000158771.4	-	1	123	c.68C>G	c.(67-69)gCc>gGc	p.A23G	DERL2_ENST00000571968.1_Intron|MIS12_ENST00000381165.3_5'Flank|DERL2_ENST00000572834.1_Missense_Mutation_p.A23G|DERL2_ENST00000570848.1_Missense_Mutation_p.A23G|MIS12_ENST00000573759.1_5'Flank	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	23					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						GAGGACGCAGGCAGTGGTGTA	0.647																																																	0													47.0	43.0	44.0					17																	5389414		2196	4294	6490	SO:0001583	missense	0			BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"""Der1-like domain family, member 2"""			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.68C>G	17.37:g.5389414G>C	ENSP00000158771:p.Ala23Gly		Q9Y3A7	Missense_Mutation	SNP	pfam_DER1	p.A23G	ENST00000158771.4	37	c.68	CCDS11073.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.535956	0.96460	.	.	ENSG00000072849	ENST00000158771	T	0.12879	2.64	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	L	0.54863	1.705	0.80722	D	1	P	0.35944	0.529	B	0.44163	0.443	T	0.00237	-1.1890	10	0.32370	T	0.25	-0.0276	19.8676	0.96824	0.0:0.0:1.0:0.0	.	23	Q9GZP9	DERL2_HUMAN	G	23	ENSP00000158771:A23G	ENSP00000158771:A23G	A	-	2	0	DERL2	5330138	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.087000	0.94110	2.941000	0.99782	0.655000	0.94253	GCC	DERL2	-	pfam_DER1	ENSG00000072849		0.647	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL2	HGNC	protein_coding	OTTHUMT00000219825.1	-	0.00	27	0	G	NM_016041		5389414	-1	tier1	-	no_errors	ENST00000158771	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	C
DGCR5	26220	genome.wustl.edu	37	22	18979584	18979584	+	RNA	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:18979584G>T	ENST00000421572.1	+	0	1136				DGCR5_ENST00000438934.1_RNA|DGCR5_ENST00000537283.1_RNA|DGCR5_ENST00000440005.2_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		CTCAGCGGCAGATCGTCCCAC	0.592																																																	0																																												0			X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.18979584G>T				RNA	SNP	-	NULL	ENST00000421572.1	37	NULL		22																																																																																			DGCR5	-	-	ENSG00000237517		0.592	DGCR5-004	KNOWN	basic|exp_conf	antisense	DGCR5	HGNC	antisense	OTTHUMT00000316630.1	-	0.00	29	0	G	NR_002733		18979584	+1	tier1	-	no_errors	ENST00000438934	ensembl	human	known	74_37	rna	21.43	11	3	SNP	0.008	T
DIO3	1735	genome.wustl.edu	37	14	102026512	102026512	+	5'Flank	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:102026512G>A	ENST00000510508.4	+	0	0				DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_5'Flank			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III						cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CGGCAGGGCCGGCCAGGGCCC	0.711																																																	0																																										SO:0001631	upstream_gene_variant	0			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681		14.37:g.102026512G>A	Exception_encountered		G3XAM0|Q8WVN5	RNA	SNP	-	NULL	ENST00000510508.4	37	NULL	CCDS41992.2	14																																																																																			DIO3OS	-	-	ENSG00000258498		0.711	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	DIO3OS	HGNC	protein_coding	OTTHUMT00000361712.4	-	0.00	76	0	G	NM_001362		102026512	-1	tier1	-	no_errors	ENST00000554735	ensembl	human	known	74_37	rna	21.57	40	11	SNP	0.000	A
DIP2C	22982	genome.wustl.edu	37	10	390977	390979	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:390977_390979delGCC	ENST00000280886.6	-	27	3390_3392	c.3303_3305delGGC	c.(3301-3306)gcggct>gct	p.1101_1102AA>A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1101						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A1102delA(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GACGTCCACAGCCGCCGCCGCCT	0.596																																																	1	Deletion - In frame(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	0			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3303_3305delGGC	10.37:g.390986_390988delGCC	ENSP00000280886:p.Ala1102del		B4DPI5|Q5SS78	In_Frame_Del	DEL	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.A1102in_frame_del	ENST00000280886.6	37	c.3305_3303	CCDS7054.1	10																																																																																			DIP2C	-	pfam_AMP-dep_Synth/Lig	ENSG00000151240		0.596	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1		0.00	52	0	GCC	NM_014974		390979	-1	tier1		no_errors	ENST00000280886	ensembl	human	known	74_37	in_frame_del	9.68	28	3	DEL	0.979:0.971:0.194	-
DLC1	10395	genome.wustl.edu	37	8	12957567	12957567	+	Missense_Mutation	SNP	G	G	A	rs144923726		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:12957567G>A	ENST00000276297.4	-	9	2688	c.2279C>T	c.(2278-2280)aCg>aTg	p.T760M	DLC1_ENST00000520226.1_Missense_Mutation_p.T249M|DLC1_ENST00000512044.2_Missense_Mutation_p.T357M|DLC1_ENST00000358919.2_Missense_Mutation_p.T323M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	760	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCGGGTCCTCGTAACAGGGCT	0.587																																																	0								G	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	57.0	51.0	53.0		746,968,2279	3.3	0.9	8	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	81,81,81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	249/1018,323/1092,760/1529	12957567	2,13004	2203	4300	6503	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2279C>T	8.37:g.12957567G>A	ENSP00000276297:p.Thr760Met		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.T760M	ENST00000276297.4	37	c.2279	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101330	0.56183	2.27E-4	1.16E-4	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06687	3.52;3.28;3.27;3.27	4.23	3.34	0.38264	.	0.163195	0.53938	D	0.000051	T	0.25791	0.0628	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.69824	0.964;0.856;0.966	T	0.02047	-1.1223	10	0.56958	D	0.05	.	13.7054	0.62636	0.0:0.0:0.8446:0.1554	.	760;357;323	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	M	760;323;357;249	ENSP00000276297:T760M;ENSP00000351797:T323M;ENSP00000422595:T357M;ENSP00000428028:T249M	ENSP00000276297:T760M	T	-	2	0	DLC1	13001938	1.000000	0.71417	0.916000	0.36221	0.818000	0.46254	9.263000	0.95617	1.117000	0.41842	-0.314000	0.08810	ACG	DLC1	-	NULL	ENSG00000164741		0.587	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0.00	35	0	G	NM_182643, NM_006094		12957567	-1	tier1	rs144923726	no_errors	ENST00000276297	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.984	A
DLX4	1748	genome.wustl.edu	37	17	48051224	48051224	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:48051224C>T	ENST00000240306.3	+	3	935	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	DLX4_ENST00000411890.2_Missense_Mutation_p.P142S	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	214					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						AGGGACCCTGCCCACCAGTGG	0.622																																																	0													53.0	55.0	54.0					17																	48051224		2203	4300	6503	SO:0001583	missense	0				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.640C>T	17.37:g.48051224C>T	ENSP00000240306:p.Pro214Ser		D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.P214S	ENST00000240306.3	37	c.640	CCDS11555.1	17	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768012	0.49680	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	D;D	0.92299	-2.82;-3.01	5.03	3.04	0.35103	.	.	.	.	.	D	0.89252	0.6662	L	0.43152	1.355	0.38668	D	0.952234	P;B	0.41313	0.745;0.055	P;B	0.47915	0.561;0.044	D	0.84113	0.0402	9	0.18276	T	0.48	-17.0151	8.2958	0.31984	0.0:0.755:0.1584:0.0865	.	142;214	Q92988-2;Q92988	.;DLX4_HUMAN	S	214;142	ENSP00000240306:P214S;ENSP00000410622:P142S	ENSP00000240306:P214S	P	+	1	0	DLX4	45406223	0.031000	0.19500	0.993000	0.49108	0.864000	0.49448	0.255000	0.18333	0.695000	0.31675	0.561000	0.74099	CCC	DLX4	-	NULL	ENSG00000108813		0.622	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	HGNC	protein_coding	OTTHUMT00000366214.1	-	0.00	58	0	C			48051224	+1	tier1	-	no_errors	ENST00000240306	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.931	T
DMAP1	55929	genome.wustl.edu	37	1	44680454	44680454	+	Missense_Mutation	SNP	C	C	T	rs34697342	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:44680454C>T	ENST00000372289.2	+	3	540	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	DMAP1_ENST00000361745.6_Missense_Mutation_p.R93W|DMAP1_ENST00000315913.5_Missense_Mutation_p.R93W	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	93					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)	p.R93W(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CAAGAAGGTGCGGCCTTGGAA	0.612																																																	1	Substitution - Missense(1)	prostate(1)											91.0	80.0	84.0					1																	44680454		2203	4300	6503	SO:0001583	missense	0			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.277C>T	1.37:g.44680454C>T	ENSP00000361363:p.Arg93Trp		A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	pfam_DMAP1,superfamily_Homeodomain-like	p.R93W	ENST00000372289.2	37	c.277	CCDS509.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643884	0.87859	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000436069;ENST00000437511;ENST00000315913;ENST00000372289;ENST00000372290	T;T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.46	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	M	0.89785	3.06	0.80722	D	1	D;D;D;D;P;D	0.64830	0.994;0.983;0.986;0.961;0.932;0.989	P;P;P;B;B;P	0.56163	0.793;0.724;0.534;0.411;0.44;0.793	T	0.62501	-0.6841	10	0.72032	D	0.01	-13.1551	13.9599	0.64172	0.3292:0.6708:0.0:0.0	.	93;93;93;93;119;93	B4DQG8;B4DEF2;B4DTH3;B4DTU6;B4DU03;Q9NPF5	.;.;.;.;.;DMAP1_HUMAN	W	93;93;119;93;119;119;93;93;64	ENSP00000354697:R93W;ENSP00000409200:R93W;ENSP00000401099:R93W;ENSP00000400269:R119W;ENSP00000402494:R119W;ENSP00000312697:R93W;ENSP00000361363:R93W;ENSP00000361364:R64W	ENSP00000312697:R93W	R	+	1	2	DMAP1	44453041	0.999000	0.42202	0.996000	0.52242	0.999000	0.98932	3.756000	0.55205	0.545000	0.28902	0.655000	0.94253	CGG	DMAP1	-	NULL	ENSG00000178028		0.612	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DMAP1	HGNC	protein_coding	OTTHUMT00000020027.3		0.00	59	0	C	NM_019100		44680454	+1			no_errors	ENST00000315913	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.999	T
DMBT1	1755	genome.wustl.edu	37	10	124358439	124358439	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:124358439T>C	ENST00000338354.3	+	26	3212	c.3106T>C	c.(3106-3108)Tgt>Cgt	p.C1036R	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.C537R|DMBT1_ENST00000368909.3_Missense_Mutation_p.C1036R|DMBT1_ENST00000368955.3_Missense_Mutation_p.C1026R|DMBT1_ENST00000344338.3_Missense_Mutation_p.C1026R|DMBT1_ENST00000330163.4_Missense_Mutation_p.C537R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1036	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAACTGGGCTGTGGCTGGGC	0.602																																					Ovarian(182;93 2026 18125 22222 38972)												0													221.0	221.0	221.0					10																	124358439		2019	4199	6218	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3106T>C	10.37:g.124358439T>C	ENSP00000342210:p.Cys1036Arg		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.C1036R	ENST00000338354.3	37	c.3106		10	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508242	0.64410	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	3.57	3.57	0.40892	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.809051	0.10510	U	0.666262	T	0.73737	0.3625	H	0.94886	3.595	0.80722	D	1	D;D;D;D	0.89917	0.991;1.0;1.0;1.0	P;D;D;D	0.91635	0.849;0.998;0.999;0.999	T	0.75906	-0.3152	10	0.72032	D	0.01	.	12.5079	0.55991	0.0:0.0:0.0:1.0	.	1036;537;1026;1036	Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	R	1036;1036;1036;1036;1036;1036;537;1026;537;537;1036;1026;537	ENSP00000342210:C1036R;ENSP00000343175:C1026R;ENSP00000327747:C537R;ENSP00000357905:C1036R;ENSP00000357951:C1026R;ENSP00000357952:C537R	ENSP00000331522:C537R	C	+	1	0	DMBT1	124348429	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.446000	0.80609	1.402000	0.46780	0.456000	0.33151	TGT	DMBT1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000187908		0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	-	0.00	224	0	T	NM_004406		124358439	+1	tier1	-	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	38.80	112	71	SNP	1.000	C
DMC1	11144	genome.wustl.edu	37	22	38934571	38934571	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:38934571A>T	ENST00000216024.2	-	10	909	c.633T>A	c.(631-633)caT>caA	p.H211Q	DMC1_ENST00000428462.2_Missense_Mutation_p.H156Q	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	211					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CAGCTTCTTCATGGAACTTTG	0.348								Homologous recombination																																									0													133.0	137.0	135.0					22																	38934571		2203	4300	6503	SO:0001583	missense	0			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.633T>A	22.37:g.38934571A>T	ENSP00000216024:p.His211Gln		A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase	p.H211Q	ENST00000216024.2	37	c.633	CCDS13973.1	22	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657455	0.47467	.	.	ENSG00000100206	ENST00000216024;ENST00000428462;ENST00000439567	T;T;T	0.64618	-0.11;1.14;1.14	5.6	2.27	0.28462	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	N	0.17082	0.46	0.28695	N	0.90437	B;B	0.21452	0.056;0.056	B;B	0.36418	0.115;0.224	T	0.50276	-0.8847	10	0.54805	T	0.06	-11.3242	9.7466	0.40451	0.8081:0.0:0.1919:0.0	.	156;211	B4DMW6;Q14565	.;DMC1_HUMAN	Q	211;156;156	ENSP00000216024:H211Q;ENSP00000412703:H156Q;ENSP00000391385:H156Q	ENSP00000216024:H211Q	H	-	3	2	DMC1	37264517	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.661000	0.37408	0.073000	0.16731	0.477000	0.44152	CAT	DMC1	-	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DMC1_rcmbase	ENSG00000100206		0.348	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMC1	HGNC	protein_coding	OTTHUMT00000321246.2		0.00	39	0	A	NM_007068		38934571	-1			no_errors	ENST00000216024	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T
DNAJC8	22826	genome.wustl.edu	37	1	28536712	28536713	+	Intron	INS	-	-	A	rs542187072	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:28536712_28536713insA	ENST00000263697.4	-	5	331				DNAJC8_ENST00000489277.1_Intron	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TAAACTAAGTTAAAAAAAACAT	0.322													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	3	0.000599042	0.0	0.0	5008	,	,		20566	0.003		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.305-135->T	1.37:g.28536720_28536720dupA			B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	RNA	INS	-	NULL	ENST00000263697.4	37	NULL	CCDS41292.1	1																																																																																			DNAJC8	-	-	ENSG00000126698		0.322	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC8	HGNC	protein_coding	OTTHUMT00000009860.1		0.00	18	0	-	NM_014280		28536713	-1	tier1		no_errors	ENST00000482674	ensembl	human	known	74_37	rna	10.53	17	2	INS	0.000:0.000	A
DNTTIP2	30836	genome.wustl.edu	37	1	94343366	94343366	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:94343366T>C	ENST00000436063.2	-	2	182	c.125A>G	c.(124-126)gAt>gGt	p.D42G	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	42					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		AGTTCGGGCATCAGATCCAGT	0.448																																																	0													60.0	56.0	57.0					1																	94343366		1885	4117	6002	SO:0001583	missense	0			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.125A>G	1.37:g.94343366T>C	ENSP00000411010:p.Asp42Gly		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	pfam_Fcf2	p.D42G	ENST00000436063.2	37	c.125	CCDS44174.1	1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.433221	0.43224	.	.	ENSG00000067334	ENST00000436063;ENST00000528680	T	0.25579	1.79	4.93	1.31	0.21738	.	3.379890	0.00870	N	0.002010	T	0.04815	0.0130	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.17048	-1.0382	10	0.11485	T	0.65	.	4.0523	0.09801	0.1646:0.1537:0.0:0.6817	.	42	Q5QJE6	TDIF2_HUMAN	G	42;49	ENSP00000411010:D42G	ENSP00000352137:D42G	D	-	2	0	DNTTIP2	94115954	0.001000	0.12720	0.000000	0.03702	0.060000	0.15804	0.644000	0.24766	0.119000	0.18210	0.524000	0.50904	GAT	DNTTIP2	-	NULL	ENSG00000067334		0.448	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	-	0.00	44	0	T	NM_014597		94343366	-1	tier1	-	no_errors	ENST00000436063	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.000	C
DNAH14	127602	genome.wustl.edu	37	1	225328714	225328714	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:225328714A>G	ENST00000445597.2	+	17	3296	c.3296A>G	c.(3295-3297)gAg>gGg	p.E1099G	DNAH14_ENST00000439375.2_Missense_Mutation_p.E1483G|DNAH14_ENST00000430092.1_Missense_Mutation_p.E1483G			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	1099					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						GAGGATTTTGAGTGGACAAGG	0.323																																																	0													36.0	35.0	35.0					1																	225328714		692	1591	2283	SO:0001583	missense	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.3296A>G	1.37:g.225328714A>G	ENSP00000409472:p.Glu1099Gly		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.E1483G	ENST00000445597.2	37	c.4448		1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780307	0.49891	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375;ENST00000328556	T;T;T;T	0.36699	2.25;1.24;1.24;1.48	5.67	5.67	0.87782	.	.	.	.	.	T	0.54598	0.1868	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54741	-0.8248	9	0.54805	T	0.06	.	14.8936	0.70627	1.0:0.0:0.0:0.0	.	1483	Q0VDD8-4	.	G	1099;1483;1483;578	ENSP00000409472:E1099G;ENSP00000414402:E1483G;ENSP00000392061:E1483G;ENSP00000332424:E578G	ENSP00000332424:E578G	E	+	2	0	DNAH14	223395337	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.382000	0.59594	2.158000	0.67659	0.491000	0.48974	GAG	DNAH14	-	NULL	ENSG00000185842		0.323	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	-	0.00	44	0	A	XM_059166		225328714	+1	tier1	-	no_errors	ENST00000430092	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	G
DSG1	1828	genome.wustl.edu	37	18	28934711	28934711	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr18:28934711T>A	ENST00000257192.4	+	15	2764	c.2552T>A	c.(2551-2553)gTg>gAg	p.V851E	RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.V210E|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	851					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AAGCCCTCTGTGCACGTTCAC	0.517																																																	0													207.0	177.0	187.0					18																	28934711		2203	4300	6503	SO:0001583	missense	0			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2552T>A	18.37:g.28934711T>A	ENSP00000257192:p.Val851Glu		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin	p.V851E	ENST00000257192.4	37	c.2552	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	T	5.721	0.317448	0.10845	.	.	ENSG00000134760	ENST00000257192	D	0.81659	-1.52	5.76	3.45	0.39498	.	0.207643	0.33875	N	0.004468	T	0.81143	0.4761	M	0.72479	2.2	0.40836	D	0.983635	P	0.51351	0.944	P	0.48704	0.587	T	0.83330	-0.0013	10	0.72032	D	0.01	.	8.7301	0.34494	0.0:0.1888:0.0:0.8112	.	851	Q02413	DSG1_HUMAN	E	851	ENSP00000257192:V851E	ENSP00000257192:V851E	V	+	2	0	DSG1	27188709	1.000000	0.71417	0.996000	0.52242	0.174000	0.22865	2.180000	0.42537	2.206000	0.71126	0.383000	0.25322	GTG	DSG1	-	NULL	ENSG00000134760		0.517	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	-	0.00	37	0	T	NM_001942		28934711	+1	tier1	-	no_errors	ENST00000257192	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.751	A
DSP	1832	genome.wustl.edu	37	6	7585192	7585192	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:7585192G>A	ENST00000379802.3	+	24	8038	c.7697G>A	c.(7696-7698)gGt>gAt	p.G2566D	DSP_ENST00000418664.2_Missense_Mutation_p.G1967D	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2566	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)		TTGAAAAATGGTGTCGGCACC	0.493																																																	0													97.0	94.0	95.0					6																	7585192		2203	4300	6503	SO:0001583	missense	0			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.7697G>A	6.37:g.7585192G>A	ENSP00000369129:p.Gly2566Asp		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.G2566D	ENST00000379802.3	37	c.7697	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104347	0.56291	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.74209	-0.51;-0.82	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000004	T	0.56171	0.1967	L	0.36672	1.1	0.26331	N	0.977515	D;B	0.60575	0.988;0.141	P;B	0.46940	0.532;0.019	T	0.54443	-0.8293	10	0.18276	T	0.48	.	15.5827	0.76459	0.0:0.0:1.0:0.0	.	2014;2566	Q4LE79;P15924	.;DESP_HUMAN	D	2566;1967	ENSP00000369129:G2566D;ENSP00000396591:G1967D	ENSP00000369129:G2566D	G	+	2	0	DSP	7530191	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	3.401000	0.52601	2.746000	0.94184	0.655000	0.94253	GGT	DSP	-	NULL	ENSG00000096696		0.493	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	-	0.00	58	0	G	NM_004415		7585192	+1	tier1	-	no_errors	ENST00000379802	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.998	A
DUS2	54920	genome.wustl.edu	37	16	68104087	68104087	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:68104087C>G	ENST00000565263.1	+	11	1099	c.605C>G	c.(604-606)gCc>gGc	p.A202G	DUS2_ENST00000358896.6_Missense_Mutation_p.A202G|DUS2_ENST00000432752.1_Missense_Mutation_p.A167G	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	202					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										GTCATCAAAGCCATTGCTGAT	0.532																																																	0													262.0	195.0	218.0					16																	68104087		2198	4300	6498	SO:0001583	missense	0				CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.605C>G	16.37:g.68104087C>G	ENSP00000455229:p.Ala202Gly		A8K3G3|Q4H4D9	Missense_Mutation	SNP	pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom	p.A202G	ENST00000565263.1	37	c.605	CCDS10859.1	16	.	.	.	.	.	.	.	.	.	.	C	30	5.055112	0.93793	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.32272	1.46;1.46	5.51	5.51	0.81932	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	M	0.84156	2.68	0.80722	D	1	D;D	0.55385	0.971;0.971	P;P	0.60012	0.867;0.811	T	0.54153	-0.8336	10	0.38643	T	0.18	-3.4561	17.3853	0.87414	0.0:1.0:0.0:0.0	.	167;202	E7EUN9;Q9NX74	.;DUS2L_HUMAN	G	202;167	ENSP00000351769:A202G;ENSP00000409498:A167G	ENSP00000351769:A202G	A	+	2	0	DUS2L	66661588	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.806000	0.75195	2.873000	0.98535	0.561000	0.74099	GCC	DUS2	-	pfam_tRNA_hU_synthase	ENSG00000167264		0.532	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS2	HGNC	protein_coding	OTTHUMT00000268869.2	-	0.00	80	0	C	NM_017803		68104087	+1	tier1	-	no_errors	ENST00000358896	ensembl	human	known	74_37	missense	15.62	54	10	SNP	1.000	G
DVL3	1857	genome.wustl.edu	37	3	183887840	183887840	+	Silent	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:183887840C>T	ENST00000313143.3	+	14	1793	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	DVL3_ENST00000431765.1_Silent_p.A498A|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	515					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCAGTGGCGCCTCTGACCAGG	0.657																																																	0													73.0	64.0	67.0					3																	183887840		2203	4300	6503	SO:0001819	synonymous_variant	0			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1545C>T	3.37:g.183887840C>T			B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3	p.A515	ENST00000313143.3	37	c.1545	CCDS3253.1	3																																																																																			DVL3	-	pfam_Dishevelled_C-dom	ENSG00000161202		0.657	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DVL3	HGNC	protein_coding	OTTHUMT00000346184.1		0.00	48	0	C	NM_004423		183887840	+1			no_errors	ENST00000313143	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.996	T
DYNC1LI2	1783	genome.wustl.edu	37	16	66761667	66761667	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:66761667C>A	ENST00000258198.2	-	11	1391	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H	RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000570201.1_5'Flank|DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.Q318H	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	395					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CTCCCCGACCCTGGGTCCTTG	0.493																																																	0													67.0	69.0	68.0					16																	66761667		2201	4300	6501	SO:0001583	missense	0			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.1185G>T	16.37:g.66761667C>A	ENSP00000258198:p.Gln395His		A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase	p.Q395H	ENST00000258198.2	37	c.1185	CCDS10818.1	16	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644494	0.29246	.	.	ENSG00000135720	ENST00000258198;ENST00000443351	T;T	0.18016	2.24;2.24	5.39	4.43	0.53597	.	0.226576	0.45361	D	0.000368	T	0.18215	0.0437	N	0.19112	0.55	0.80722	D	1	D;P	0.64830	0.994;0.913	P;P	0.57152	0.814;0.637	T	0.02844	-1.1103	10	0.66056	D	0.02	-22.8695	6.3071	0.21145	0.1503:0.6868:0.0:0.1629	.	318;395	B4DZP4;O43237	.;DC1L2_HUMAN	H	395;318	ENSP00000258198:Q395H;ENSP00000394289:Q318H	ENSP00000258198:Q395H	Q	-	3	2	DYNC1LI2	65319168	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	0.352000	0.20113	1.488000	0.48433	0.655000	0.94253	CAG	DYNC1LI2	-	pfam_Dynein_light_int_chain	ENSG00000135720		0.493	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI2	HGNC	protein_coding	OTTHUMT00000268846.1	-	0.00	97	0	C	NM_006141		66761667	-1	tier1	-	no_errors	ENST00000258198	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A
DYNC2H1	79659	genome.wustl.edu	37	11	103092764	103092764	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:103092764T>G	ENST00000375735.2	+	58	9257	c.9113T>G	c.(9112-9114)cTt>cGt	p.L3038R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3038R|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3038	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTAGTTTCCTTGCAAAAAGA	0.284																																																	0													71.0	71.0	71.0					11																	103092764		1800	4056	5856	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9113T>G	11.37:g.103092764T>G	ENSP00000364887:p.Leu3038Arg		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3038R	ENST00000375735.2	37	c.9113	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491307	0.84962	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.76578	-1.03;-1.03	5.87	5.87	0.94306	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.64402	D	0.000001	D	0.90428	0.7003	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92354	0.5892	10	0.87932	D	0	.	15.5573	0.76208	0.0:0.0:0.0:1.0	.	3038;3038	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	R	3038	ENSP00000364887:L3038R;ENSP00000381167:L3038R	ENSP00000364887:L3038R	L	+	2	0	DYNC2H1	102597974	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.622000	0.83099	2.371000	0.80710	0.533000	0.62120	CTT	DYNC2H1	-	NULL	ENSG00000187240		0.284	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	116	0	T	XM_370652		103092764	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	43.18	49	38	SNP	1.000	G
ECE2	9718	genome.wustl.edu	37	3	184005669	184005669	+	Silent	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:184005669C>T	ENST00000402825.3	+	11	1662	c.1662C>T	c.(1660-1662)gaC>gaT	p.D554D	ECE2_ENST00000359140.4_Silent_p.D407D|ECE2_ENST00000357474.5_Silent_p.D482D|ECE2_ENST00000404464.3_Silent_p.D436D|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	554	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACACGGATGACGCCCTTGGCT	0.527																																																	0													136.0	117.0	123.0					3																	184005669		2203	4300	6503	SO:0001819	synonymous_variant	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1662C>T	3.37:g.184005669C>T			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.D554	ENST00000402825.3	37	c.1662	CCDS3256.2	3																																																																																			ECE2	-	pfam_Peptidase_M13_N	ENSG00000145194		0.527	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	-	0.00	52	0	C	NM_014693		184005669	+1	tier1	-	no_errors	ENST00000402825	ensembl	human	known	74_37	silent	32.61	31	15	SNP	0.972	T
ECHDC1	55862	genome.wustl.edu	37	6	127652116	127652116	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:127652116G>C	ENST00000531967.1	-	2	579	c.76C>G	c.(76-78)Caa>Gaa	p.Q26E	ECHDC1_ENST00000430841.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000528402.1_Intron|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000368291.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000309620.9_Missense_Mutation_p.Q20E|ECHDC1_ENST00000368289.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000454859.3_Missense_Mutation_p.Q20E|ECHDC1_ENST00000474289.2_Missense_Mutation_p.Q20E	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	26						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AATCCTGTTTGATGTAGCAAT	0.383																																																	0													79.0	77.0	78.0					6																	127652116		2203	4300	6503	SO:0001583	missense	0			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.76C>G	6.37:g.127652116G>C	ENSP00000436585:p.Gln26Glu		A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.Q26E	ENST00000531967.1	37	c.76	CCDS47471.1	6	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437381	0.25900	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000368290;ENST00000474289;ENST00000368291;ENST00000309620;ENST00000430841;ENST00000368289;ENST00000525745;ENST00000534442;ENST00000531582	T;T;T;T;T;T	0.63096	-0.01;-0.02;-0.01;0.84;-0.01;0.91	5.96	5.07	0.68467	.	0.512237	0.22338	N	0.061368	T	0.44030	0.1274	L	0.60455	1.87	0.09310	N	1	P;B	0.35612	0.512;0.129	B;B	0.32677	0.15;0.058	T	0.46456	-0.9190	10	0.56958	D	0.05	-11.8541	16.1255	0.81392	0.0:0.0:0.8615:0.1385	.	20;26	Q5TEF6;Q9NTX5	.;ECHD1_HUMAN	E	20;26;20;20;20;20;20;20;20;20;20	ENSP00000401751:Q20E;ENSP00000436585:Q26E;ENSP00000434908:Q20E;ENSP00000311115:Q20E;ENSP00000402492:Q20E;ENSP00000435502:Q20E	ENSP00000311115:Q20E	Q	-	1	0	ECHDC1	127693809	0.531000	0.26338	0.004000	0.12327	0.560000	0.35617	2.452000	0.44961	1.463000	0.47967	0.650000	0.86243	CAA	ECHDC1	-	NULL	ENSG00000093144		0.383	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECHDC1	HGNC	protein_coding	OTTHUMT00000042131.2	-	0.00	41	0	G			127652116	-1	tier1	-	no_errors	ENST00000531967	ensembl	human	known	74_37	missense	12.70	55	8	SNP	0.042	C
EHD3	30845	genome.wustl.edu	37	2	31457626	31457626	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:31457626T>C	ENST00000322054.5	+	1	424	c.139T>C	c.(139-141)Tcg>Ccg	p.S47P	EHD3_ENST00000541626.1_Missense_Mutation_p.S47P	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	47					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CGAGTTCCACTCGCCCGCCCT	0.597																																																	0													107.0	101.0	103.0					2																	31457626		2203	4300	6503	SO:0001583	missense	0			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.139T>C	2.37:g.31457626T>C	ENSP00000327116:p.Ser47Pro		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.S47P	ENST00000322054.5	37	c.139	CCDS1774.1	2	.	.	.	.	.	.	.	.	.	.	T	31	5.087142	0.94100	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	T;T	0.35236	1.32;2.03	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80984	-0.1138	10	0.87932	D	0	-9.8206	14.8641	0.70401	0.0:0.0:0.0:1.0	.	47;47	B4DFR5;Q9NZN3	.;EHD3_HUMAN	P	47	ENSP00000440685:S47P;ENSP00000327116:S47P	ENSP00000327116:S47P	S	+	1	0	EHD3	31311130	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.387000	0.79785	2.102000	0.63906	0.459000	0.35465	TCG	EHD3	-	superfamily_P-loop_NTPase	ENSG00000013016		0.597	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	HGNC	protein_coding	OTTHUMT00000216810.1	-	0.00	110	0	T	NM_014600		31457626	+1	tier1	-	no_errors	ENST00000322054	ensembl	human	known	74_37	missense	24.00	57	18	SNP	1.000	C
EHD4	30844	genome.wustl.edu	37	15	42192879	42192879	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:42192879G>A	ENST00000220325.4	-	6	1673	c.1590C>T	c.(1588-1590)ccC>ccT	p.P530P	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	530	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TGTGCGAGGGGGGCACGAGGT	0.667																																																	0													20.0	20.0	20.0					15																	42192879		2200	4293	6493	SO:0001819	synonymous_variant	0			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1590C>T	15.37:g.42192879G>A			Q9HAR1|Q9NZN2	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.P530	ENST00000220325.4	37	c.1590	CCDS10081.1	15																																																																																			EHD4	-	smart_EPS15_homology,pfscan_EPS15_homology	ENSG00000103966		0.667	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	-	0.00	59	0	G	NM_139265		42192879	-1	tier1	-	no_errors	ENST00000220325	ensembl	human	known	74_37	silent	54.72	24	29	SNP	0.886	A
AC073218.1	0	genome.wustl.edu	37	2	34628756	34628756	+	lincRNA	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:34628756A>C	ENST00000422558.1	+	0	475				AC011748.1_ENST00000390736.2_RNA																							ttggtgcaaaagtaattgcgg	0.289																																																	0																																												0																															2.37:g.34628756A>C				RNA	SNP	-	NULL	ENST00000422558.1	37	NULL		2																																																																																			AC011748.1	-	-	ENSG00000212025		0.289	AC073218.1-001	KNOWN	basic	lincRNA	ENSG00000212025	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000325415.1	-	0.00	36	0	A			34628756	-1	tier1	-	no_errors	ENST00000390736	ensembl	human	novel	74_37	rna	38.46	24	15	SNP	0.110	C
AC109351.1	0	genome.wustl.edu	37	4	29751918	29751918	+	RNA	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:29751918T>G	ENST00000390756.1	+	0	101																											TTTGTGGCAGTTTTAATTTAT	0.274																																																	0																																												0																															4.37:g.29751918T>G				RNA	SNP	-	NULL	ENST00000390756.1	37	NULL		4																																																																																			AC109351.1	-	-	ENSG00000212045		0.274	AC109351.1-201	NOVEL	basic	miRNA	ENSG00000212045	Clone_based_ensembl_gene	miRNA		-	0.00	59	0	T			29751918	+1	tier1	-	no_errors	ENST00000390756	ensembl	human	novel	74_37	rna	27.08	35	13	SNP	1.000	G
AL391417.1	0	genome.wustl.edu	37	6	87183251	87183251	+	RNA	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:87183251A>C	ENST00000408174.1	-	0	62																											attttctctaactcatctggg	0.532																																																	0																																												0																															6.37:g.87183251A>C				RNA	SNP	-	NULL	ENST00000408174.1	37	NULL		6																																																																																			AL391417.1	-	-	ENSG00000221101		0.532	AL391417.1-201	NOVEL	basic	miRNA	ENSG00000221101	Clone_based_ensembl_gene	miRNA		-	0.00	123	0	A			87183251	-1	tier1	-	no_errors	ENST00000408174	ensembl	human	novel	74_37	rna	22.22	140	40	SNP	0.065	C
AK5	26289	genome.wustl.edu	37	1	77857164	77857165	+	Intron	INS	-	-	TA	rs67977834	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:77857164_77857165insTA	ENST00000354567.2	+	7	1154				AC095030.1_ENST00000408737.1_RNA|AK5_ENST00000344720.5_Intron	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5						ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						atatgtgtgtgtgtatgtgtgt	0.238																																																	0																																										SO:0001627	intron_variant	0			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.892-19501->TA	1.37:g.77857164_77857165insTA			Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	RNA	INS	-	NULL	ENST00000354567.2	37	NULL	CCDS675.1	1																																																																																			AC095030.1	-	-	ENSG00000221664		0.238	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221664	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000026993.4		0.00	42	0	-	NM_174858		77857165	-1	tier1		no_errors	ENST00000408737	ensembl	human	novel	74_37	rna	7.14	26	2	INS	0.989:0.989	TA
LINC01205	401082	genome.wustl.edu	37	3	109136844	109136844	+	lincRNA	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:109136844T>G	ENST00000497996.1	+	0	378																											CATTACCTACTTTTTTTCTGG	0.383																																																	0																																												0																															3.37:g.109136844T>G				RNA	SNP	-	NULL	ENST00000497996.1	37	NULL		3																																																																																			RP11-702L6.4	-	-	ENSG00000228980		0.383	RP11-702L6.4-002	KNOWN	basic	lincRNA	ENSG00000228980	Clone_based_vega_gene	lincRNA	OTTHUMT00000353892.1	-	0.00	33	0	T			109136844	+1	tier1	-	no_errors	ENST00000489670	ensembl	human	known	74_37	rna	50.00	5	5	SNP	0.000	G
RP11-141M1.3	0	genome.wustl.edu	37	13	34013856	34013856	+	lincRNA	SNP	G	G	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:34013856G>C	ENST00000454681.2	-	0	231																											TGTTATCAGAGAGCACCTGTA	0.328																																																	0																																												0																															13.37:g.34013856G>C				RNA	SNP	-	NULL	ENST00000454681.2	37	NULL		13																																																																																			RP11-141M1.3	-	-	ENSG00000230490		0.328	RP11-141M1.3-001	KNOWN	basic	lincRNA	ENSG00000230490	Clone_based_vega_gene	lincRNA	OTTHUMT00000044447.2	-	0.00	98	0	G			34013856	-1	tier1	-	no_errors	ENST00000454681	ensembl	human	known	74_37	rna	17.97	105	23	SNP	0.001	C
RP11-71N10.1	0	genome.wustl.edu	37	3	147657892	147657892	+	lincRNA	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:147657892A>G	ENST00000467198.1	+	0	102																											GCAAGGCATGAGAGAAGCACA	0.473																																																	0																																												0																															3.37:g.147657892A>G				RNA	SNP	-	NULL	ENST00000467198.1	37	NULL		3																																																																																			RP11-71N10.1	-	-	ENSG00000239922		0.473	RP11-71N10.1-001	KNOWN	basic	lincRNA	ENSG00000239922	Clone_based_vega_gene	lincRNA	OTTHUMT00000355799.1	-	0.00	58	0	A			147657892	+1	tier1	-	no_errors	ENST00000467198	ensembl	human	known	74_37	rna	25.00	36	12	SNP	0.000	G
RP11-146E13.4	0	genome.wustl.edu	37	14	19856906	19856906	+	lincRNA	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:19856906A>G	ENST00000548109.1	+	0	72																											CTTCTGTGCTAGTCTGTACAT	0.393																																																	0																																												0																															14.37:g.19856906A>G				RNA	SNP	-	NULL	ENST00000548109.1	37	NULL		14																																																																																			CTD-2314B22.3	-	-	ENSG00000244306		0.393	RP11-146E13.4-001	KNOWN	basic	lincRNA	ENSG00000244306	Clone_based_vega_gene	lincRNA	OTTHUMT00000409408.1	-	0.00	84	0	A			19856906	-1	tier1	-	no_errors	ENST00000551334	ensembl	human	known	74_37	rna	13.89	62	10	SNP	0.998	G
ANKFY1	51479	genome.wustl.edu	37	17	4089717	4089717	+	Intron	DEL	A	A	-	rs113496981		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:4089717delA	ENST00000341657.4	-	12	1506				ANKFY1_ENST00000574367.1_Intron|ANKFY1_ENST00000570535.1_Intron|ANKFY1_ENST00000573722.1_Intron|Y_RNA_ENST00000516003.1_RNA|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1						endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						tggctagcctAAAAAAAAAAA	0.398																																																	0																																										SO:0001627	intron_variant	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1471-1376T>-	17.37:g.4089717delA			A8KA65|Q5RKV4|Q9ULG5	RNA	DEL	-	NULL	ENST00000341657.4	37	NULL		17																																																																																			Y_RNA	-	-	ENSG00000251812		0.398	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ENSG00000251812	RFAM	protein_coding	OTTHUMT00000438702.1		0.00	20	0	A	NM_016376		4089717	+1	tier1		no_errors	ENST00000516003	ensembl	human	novel	74_37	rna	15.00	17	3	DEL	0.000	-
NARS2	79731	genome.wustl.edu	37	11	78154810	78154811	+	Intron	INS	-	-	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:78154810_78154811insA	ENST00000281038.5	-	12	1540				NARS2_ENST00000528850.1_Intron|RP11-452H21.1_ENST00000534168.1_RNA	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)						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)	GCAACCTAAGGAAAAAAAAAAA	0.396																																																	0																																										SO:0001627	intron_variant	0			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.1165-6->T	11.37:g.78154821_78154821dupA			G3V178	RNA	INS	-	NULL	ENST00000281038.5	37	NULL	CCDS8261.1	11																																																																																			RP11-452H21.1	-	-	ENSG00000254420		0.396	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254420	Clone_based_vega_gene	protein_coding	OTTHUMT00000391138.2		0.00	40	0	-	NM_024678		78154811	+1	tier1		no_errors	ENST00000534168	ensembl	human	known	74_37	rna	10.00	27	3	INS	0.247:0.000	A
MIR466	100423038	genome.wustl.edu	37	3	31203216	31203216	+	RNA	SNP	C	C	T	rs548026272	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:31203216C>T	ENST00000580653.1	-	0	63																											ATGTGTGTTGCGTGTATGTGT	0.353													C|||	2	0.000399361	0.0	0.0	5008	,	,		19181	0.002		0.0	False		,,,				2504	0.0																0																																												0																															3.37:g.31203216C>T				RNA	SNP	-	NULL	ENST00000580653.1	37	NULL		3																																																																																			hsa-mir-466	-	-	ENSG00000265376		0.353	hsa-mir-466.1-201	KNOWN	basic	miRNA	ENSG00000265376	miRBase	miRNA		-	0.00	31	0	C			31203216	-1	tier1	-	no_errors	ENST00000580653	ensembl	human	known	74_37	rna	15.62	27	5	SNP	0.000	T
STXBP2	6813	genome.wustl.edu	37	19	7706941	7706941	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:7706941G>A	ENST00000221283.5	+	8	631	c.600G>A	c.(598-600)caG>caA	p.Q200Q	CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000414284.2_Silent_p.Q197Q|STXBP2_ENST00000441779.2_Silent_p.Q211Q	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	200					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACACAGCCCAGTTGGCCCACG	0.662																																																	0													82.0	91.0	88.0					19																	7706941		2203	4299	6502	SO:0001819	synonymous_variant	0			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.600G>A	19.37:g.7706941G>A			B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	NULL	p.V25I	ENST00000221283.5	37	c.73	CCDS12181.1	19																																																																																			CTD-3214H19.4	-	NULL	ENSG00000268400		0.662	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000268400	Clone_based_vega_gene	protein_coding	OTTHUMT00000460963.1	-	0.00	68	0	G	NM_006949		7706941	+1	tier1	-	no_errors	ENST00000598664	ensembl	human	known	74_37	missense	49.18	31	30	SNP	0.921	A
EPPK1	83481	genome.wustl.edu	37	8	144945735	144945735	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:144945735G>T	ENST00000525985.1	-	2	1758	c.1687C>A	c.(1687-1689)Ctg>Atg	p.L563M				P58107	EPIPL_HUMAN	epiplakin 1	563						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.L563M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGTCCCTCAGCCCAGAAAAG	0.627																																																	1	Substitution - Missense(1)	autonomic_ganglia(1)											27.0	33.0	31.0					8																	144945735		2158	4266	6424	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1687C>A	8.37:g.144945735G>T	ENSP00000436337:p.Leu563Met		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.L563M	ENST00000525985.1	37	c.1687		8	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717063	0.30413	.	.	ENSG00000227184	ENST00000525985	T	0.70282	-0.47	5.06	1.27	0.21489	.	.	.	.	.	T	0.78272	0.4257	M	0.64997	1.995	0.09310	N	0.999997	D	0.89917	1.0	D	0.74023	0.982	T	0.64639	-0.6360	9	0.51188	T	0.08	.	7.3732	0.26813	0.463:0.0:0.537:0.0	.	563	E9PPU0	.	M	563	ENSP00000436337:L563M	ENSP00000436337:L563M	L	-	1	2	EPPK1	145017723	0.879000	0.30193	0.658000	0.29665	0.411000	0.31082	1.182000	0.32029	0.044000	0.15775	-0.793000	0.03317	CTG	EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1		0.00	48	0	G	NM_031308		144945735	-1			no_errors	ENST00000525985	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.147	T
ERC2	26059	genome.wustl.edu	37	3	55543118	55543118	+	3'UTR	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:55543118T>G	ENST00000288221.6	-	0	5355				ERC2_ENST00000486496.1_5'UTR	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2							cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AATTTAATTTTTAAGGGACTA	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.*2226A>C	3.37:g.55543118T>G			Q2T9F6|Q86TK4	RNA	SNP	-	NULL	ENST00000288221.6	37	NULL	CCDS46851.1	3																																																																																			ERC2	-	-	ENSG00000187672		0.328	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	-	0.00	47	0	T	NM_015576		55543118	-1	tier1	-	no_errors	ENST00000486496	ensembl	human	known	74_37	rna	31.82	15	7	SNP	0.001	G
ERCC6	2074	genome.wustl.edu	37	10	50681583	50681583	+	Silent	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:50681583G>T	ENST00000355832.5	-	14	2727	c.2649C>A	c.(2647-2649)ctC>ctA	p.L883L	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Silent_p.L253L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	883	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CATCCATCTTGAGATAGGTAT	0.433								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													351.0	279.0	304.0					10																	50681583		2203	4300	6503	SO:0001819	synonymous_variant	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2649C>A	10.37:g.50681583G>T			D3DX94|Q5W0L9	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L883	ENST00000355832.5	37	c.2649	CCDS7229.1	10																																																																																			ERCC6	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000225830		0.433	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	-	0.00	64	0	G	NM_000124		50681583	-1	tier1	-	no_errors	ENST00000355832	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	T
EXOC1	55763	genome.wustl.edu	37	4	56756523	56756523	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:56756523G>T	ENST00000381295.2	+	12	1858	c.1510G>T	c.(1510-1512)Gat>Tat	p.D504Y	EXOC1_ENST00000346134.7_Missense_Mutation_p.D504Y|EXOC1_ENST00000349598.6_Missense_Mutation_p.D489Y	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	504					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTCTGATCTCGATGTTGCTGA	0.378																																																	0													136.0	120.0	126.0					4																	56756523		2203	4300	6503	SO:0001583	missense	0			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1510G>T	4.37:g.56756523G>T	ENSP00000370695:p.Asp504Tyr		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	pfam_Exocyst_Exoc1/SEC3	p.D504Y	ENST00000381295.2	37	c.1510	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724310	0.89298	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.99;0.993	T	0.79562	-0.1752	9	0.72032	D	0.01	.	19.2843	0.94065	0.0:0.0:1.0:0.0	.	489;504	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	Y	504;504;489	.	ENSP00000326514:D504Y	D	+	1	0	EXOC1	56451280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.580000	0.87095	0.655000	0.94253	GAT	EXOC1	-	pfam_Exocyst_Exoc1/SEC3	ENSG00000090989		0.378	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1	-	0.00	72	0	G	NM_018261		56756523	+1	tier1	-	no_errors	ENST00000346134	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
FAH	2184	genome.wustl.edu	37	15	80464492	80464493	+	Splice_Site	INS	-	-	T	rs76497285		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:80464492_80464493insT	ENST00000407106.1	+	9	763_764	c.608_609insT	c.(607-612)gctttt>gcTtttt	p.AF203fs	FAH_ENST00000539156.1_Splice_Site_p.AF133fs|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Splice_Site_p.AF203fs|FAH_ENST00000261755.5_Splice_Site_p.AF203fs			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	203					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATGTAAGGCTTTTTTTGTAG	0.495									Tyrosinemia, type 1																																								0																																										SO:0001630	splice_region_variant	0	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.607-1->T	15.37:g.80464499_80464499dupT			B2R9X1|D3DW95|Q53XA7	Frame_Shift_Ins	INS	pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase	p.V206fs	ENST00000407106.1	37	c.608_609	CCDS10314.1	15																																																																																			FAH	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase	ENSG00000103876		0.495	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAH	HGNC	protein_coding	OTTHUMT00000291392.2		0.00	59	0	-		Frame_Shift_Ins	80464493	+1	tier1		no_errors	ENST00000261755	ensembl	human	known	74_37	frame_shift_ins	29.79	33	14	INS	1.000:1.000	T
FAM187B	148109	genome.wustl.edu	37	19	35719356	35719356	+	Silent	SNP	G	G	T	rs146665895		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:35719356G>T	ENST00000324675.3	-	1	276	c.228C>A	c.(226-228)ccC>ccA	p.P76P		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	76						integral component of membrane (GO:0016021)		p.P76P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GGCTGCCCTCGGGCATTATTT	0.507																																																	1	Substitution - coding silent(1)	lung(1)											56.0	57.0	57.0					19																	35719356		2203	4300	6503	SO:0001819	synonymous_variant	0			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.228C>A	19.37:g.35719356G>T			Q8N7G6	Silent	SNP	NULL	p.P76	ENST00000324675.3	37	c.228	CCDS12448.1	19																																																																																			FAM187B	-	NULL	ENSG00000177558		0.507	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM187B	HGNC	protein_coding	OTTHUMT00000378854.1		0.00	63	0	G	NM_152481		35719356	-1			no_errors	ENST00000324675	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.000	T
FAM8A1	51439	genome.wustl.edu	37	6	17606169	17606169	+	Missense_Mutation	SNP	T	T	A	rs141659233		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:17606169T>A	ENST00000259963.3	+	4	1077	c.1022T>A	c.(1021-1023)gTg>gAg	p.V341E		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	341	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CTTCGAGTTGTGACATGTGAT	0.423																																																	0													145.0	128.0	134.0					6																	17606169		2203	4300	6503	SO:0001583	missense	0			AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1022T>A	6.37:g.17606169T>A	ENSP00000259963:p.Val341Glu		B2R725	Missense_Mutation	SNP	pfam_RDD	p.V341E	ENST00000259963.3	37	c.1022	CCDS4540.1	6	.	.	.	.	.	.	.	.	.	.	T	29.6	5.021705	0.93462	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.75	5.75	0.90469	RDD (1);	0.061431	0.64402	D	0.000005	T	0.77096	0.4080	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81556	-0.0879	9	0.87932	D	0	-16.8719	16.0563	0.80809	0.0:0.0:0.0:1.0	.	341	Q9UBU6	FA8A1_HUMAN	E	91;341	.	ENSP00000259963:V341E	V	+	2	0	FAM8A1	17714148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.644000	0.83416	2.183000	0.69458	0.528000	0.53228	GTG	FAM8A1	-	pfam_RDD	ENSG00000137414		0.423	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM8A1	HGNC	protein_coding	OTTHUMT00000039950.1		0.00	66	0	T			17606169	+1			no_errors	ENST00000259963	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	A
FANCC	2176	genome.wustl.edu	37	9	98011548	98011548	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:98011548G>T	ENST00000289081.3	-	2	280	c.26C>A	c.(25-27)tCt>tAt	p.S9Y	FANCC_ENST00000375305.1_Missense_Mutation_p.S9Y	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	9					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				ATAATCACAAGAAAGATCTAC	0.468			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""Fanconi anemia, complementation group C"""		L	0													81.0	74.0	76.0					9																	98011548		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.26C>A	9.37:g.98011548G>T	ENSP00000289081:p.Ser9Tyr		B1ALR8	Missense_Mutation	SNP	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.S9Y	ENST00000289081.3	37	c.26	CCDS35071.1	9	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414159	0.42817	.	.	ENSG00000158169	ENST00000289081;ENST00000375305;ENST00000433829	T;T;T	0.50813	0.73;0.73;0.73	5.13	3.27	0.37495	.	0.942920	0.09050	N	0.855895	T	0.41949	0.1181	L	0.43152	1.355	0.09310	N	1	P;P	0.41673	0.759;0.759	P;B	0.44597	0.454;0.272	T	0.39981	-0.9587	10	0.62326	D	0.03	-0.7905	2.2287	0.03991	0.1612:0.1274:0.5139:0.1975	.	9;9	B1ALR7;Q00597	.;FANCC_HUMAN	Y	9	ENSP00000289081:S9Y;ENSP00000364454:S9Y;ENSP00000406908:S9Y	ENSP00000289081:S9Y	S	-	2	0	FANCC	97051369	0.506000	0.26139	0.581000	0.28614	0.981000	0.71138	0.607000	0.24209	0.845000	0.35118	-0.182000	0.12963	TCT	FANCC	-	pfam_Fanconi,pirsf_Fanconi	ENSG00000158169		0.468	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	HGNC	protein_coding	OTTHUMT00000053219.1	-	0.00	25	0	G	NM_000136		98011548	-1	tier1	-	no_errors	ENST00000289081	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.062	T
FANCD2	2177	genome.wustl.edu	37	3	10127509	10127509	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:10127509C>G	ENST00000419585.1	+	33	3399	c.3238C>G	c.(3238-3240)Caa>Gaa	p.Q1080E	FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.Q1080E|FANCD2_ENST00000383806.1_Missense_Mutation_p.Q1080E|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000287647.3_Missense_Mutation_p.Q1080E			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1080					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGATTTTCTCAACCTGAAAA	0.453			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													158.0	154.0	155.0					3																	10127509		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3238C>G	3.37:g.10127509C>G	ENSP00000398754:p.Gln1080Glu		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q1080E	ENST00000419585.1	37	c.3238	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	C	1.634	-0.518329	0.04171	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.56	0.338	0.15974	.	0.615082	0.18279	N	0.146072	T	0.39655	0.1086	M	0.61703	1.905	0.09310	N	0.999999	B;B	0.18310	0.027;0.012	B;B	0.15484	0.009;0.013	T	0.31779	-0.9931	10	0.18710	T	0.47	.	10.2283	0.43238	0.2263:0.3939:0.3799:0.0	.	1080;1080	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	E	1080	ENSP00000287647:Q1080E;ENSP00000373318:Q1080E;ENSP00000373317:Q1080E;ENSP00000398754:Q1080E	ENSP00000287647:Q1080E	Q	+	1	0	FANCD2	10102509	0.284000	0.24287	0.000000	0.03702	0.015000	0.08874	1.107000	0.31110	-0.221000	0.09973	-0.171000	0.13296	CAA	FANCD2	-	NULL	ENSG00000144554		0.453	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	-	0.00	62	0	C			10127509	+1	tier1	-	no_errors	ENST00000287647	ensembl	human	known	74_37	missense	41.86	25	18	SNP	0.002	G
FANCM	57697	genome.wustl.edu	37	14	45665547	45665547	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:45665547G>T	ENST00000267430.5	+	21	5598	c.5513G>T	c.(5512-5514)aGa>aTa	p.R1838I	FANCM_ENST00000542564.2_Missense_Mutation_p.R1812I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1838	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TCTTCCCTAAGAGCAATTCAT	0.418								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													133.0	123.0	126.0					14																	45665547		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5513G>T	14.37:g.45665547G>T	ENSP00000267430:p.Arg1838Ile		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1838I	ENST00000267430.5	37	c.5513	CCDS32070.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.91|19.91	3.914689|3.914689	0.72983|0.72983	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.21191	.|2.66;2.63;2.02	5.27|5.27	4.38|4.38	0.52667|0.52667	.|DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);ERCC4 domain (1);	.|1.590150	.|0.05018	.|N	.|0.472212	T|T	0.44329|0.44329	0.1288|0.1288	M|M	0.71581|0.71581	2.175|2.175	0.43313|0.43313	D|D	0.995328|0.995328	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.69307	.|0.942;0.963	T|T	0.46569|0.46569	-0.9182|-0.9182	5|10	.|0.87932	.|D	.|0	.|.	5.3144|5.3144	0.15847|0.15847	0.2849:0.0:0.7151:0.0|0.2849:0.0:0.7151:0.0	.|.	.|1812;1838	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	N|I	805|1838;1812;1354	.|ENSP00000267430:R1838I;ENSP00000442493:R1812I;ENSP00000452033:R1354I	.|ENSP00000267430:R1838I	K|R	+|+	3|2	2|0	FANCM|FANCM	44735297|44735297	0.998000|0.998000	0.40836|0.40836	0.994000|0.994000	0.49952|0.49952	0.997000|0.997000	0.91878|0.91878	3.275000|3.275000	0.51639|0.51639	2.468000|2.468000	0.83385|0.83385	0.563000|0.563000	0.77884|0.77884	AAG|AGA	FANCM	-	superfamily_Restrct_endonuc-II-like,smart_ERCC4_domain	ENSG00000187790		0.418	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0.00	90	0	G	XM_048128		45665547	+1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.957	T
FAT3	120114	genome.wustl.edu	37	11	92531706	92531706	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:92531706A>T	ENST00000298047.6	+	9	5544	c.5527A>T	c.(5527-5529)Acc>Tcc	p.T1843S	FAT3_ENST00000525166.1_Missense_Mutation_p.T1693S|FAT3_ENST00000409404.2_Missense_Mutation_p.T1843S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1843	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGACCATGAAACCATTGCCCA	0.463										TCGA Ovarian(4;0.039)																																							0													72.0	68.0	69.0					11																	92531706		1982	4169	6151	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5527A>T	11.37:g.92531706A>T	ENSP00000298047:p.Thr1843Ser		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T1843S	ENST00000298047.6	37	c.5527		11	.	.	.	.	.	.	.	.	.	.	A	4.626	0.116384	0.08881	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.03242	4.0;4.0;4.0	5.82	2.28	0.28536	.	.	.	.	.	T	0.02970	0.0088	L	0.31845	0.965	0.80722	D	1	P	0.36010	0.532	B	0.34779	0.189	T	0.55964	-0.8057	9	0.13108	T	0.6	.	8.9663	0.35879	0.7863:0.0:0.2137:0.0	.	1843	Q8TDW7-3	.	S	1843;1843;1693	ENSP00000298047:T1843S;ENSP00000387040:T1843S;ENSP00000432586:T1693S	ENSP00000298047:T1843S	T	+	1	0	FAT3	92171354	1.000000	0.71417	0.453000	0.27007	0.935000	0.57460	4.466000	0.60148	0.148000	0.19059	0.482000	0.46254	ACC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.463	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	47	0	A	NM_001008781		92531706	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	28.00	36	14	SNP	0.996	T
FAT3	120114	genome.wustl.edu	37	11	92600351	92600351	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:92600351A>G	ENST00000298047.6	+	21	12120	c.12103A>G	c.(12103-12105)Agc>Ggc	p.S4035G	FAT3_ENST00000525166.1_Missense_Mutation_p.S3885G|FAT3_ENST00000533797.1_Missense_Mutation_p.S370G|FAT3_ENST00000409404.2_Missense_Mutation_p.S4035G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4035	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCACGGGGGCAGCTGCACTGG	0.687										TCGA Ovarian(4;0.039)																																							0													6.0	7.0	7.0					11																	92600351		1961	4069	6030	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12103A>G	11.37:g.92600351A>G	ENSP00000298047:p.Ser4035Gly		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S4035G	ENST00000298047.6	37	c.12103		11	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791304	0.50102	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.94	5.94	0.96194	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.82967	0.5152	L	0.48218	1.51	0.80722	D	1	B;B	0.31625	0.332;0.003	B;B	0.26094	0.066;0.011	T	0.80360	-0.1415	9	0.30078	T	0.28	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	4035;4035	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	G	4035;4035;3885;370	ENSP00000298047:S4035G;ENSP00000387040:S4035G;ENSP00000432586:S3885G;ENSP00000436399:S370G	ENSP00000298047:S4035G	S	+	1	0	FAT3	92239999	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.033000	0.76504	2.279000	0.76181	0.459000	0.35465	AGC	FAT3	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000165323		0.687	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	27	0	A	NM_001008781		92600351	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	G
FAT4	79633	genome.wustl.edu	37	4	126411358	126411358	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:126411358A>G	ENST00000394329.3	+	17	13394	c.13381A>G	c.(13381-13383)Acc>Gcc	p.T4461A	FAT4_ENST00000335110.5_Missense_Mutation_p.T2702A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4461	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACGGGAAGGACCTGTGAGAT	0.627																																																	0													79.0	72.0	74.0					4																	126411358		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13381A>G	4.37:g.126411358A>G	ENSP00000377862:p.Thr4461Ala		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T4461A	ENST00000394329.3	37	c.13381	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	A	8.727	0.915812	0.17907	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.85861	-2.04;-2.04	5.17	5.17	0.71159	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.299368	0.18146	U	0.150245	T	0.77491	0.4138	L	0.37750	1.13	0.24522	N	0.994156	B;B;B	0.24368	0.058;0.083;0.102	B;B;B	0.24701	0.025;0.024;0.055	T	0.63314	-0.6665	10	0.20519	T	0.43	.	10.3864	0.44143	0.8359:0.1641:0.0:0.0	.	2702;4461;4460	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	A	4461;2702	ENSP00000377862:T4461A;ENSP00000335169:T2702A	ENSP00000335169:T2702A	T	+	1	0	FAT4	126630808	0.984000	0.35163	0.999000	0.59377	0.352000	0.29268	3.871000	0.56077	1.941000	0.56285	0.459000	0.35465	ACC	FAT4	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000196159		0.627	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0.00	54	0	A	NM_024582		126411358	+1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.737	G
FBXO7	25793	genome.wustl.edu	37	22	32889259	32889259	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:32889259G>A	ENST00000266087.7	+	7	1462	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	FBXO7_ENST00000397426.1_Missense_Mutation_p.D265N|FBXO7_ENST00000382058.3_Missense_Mutation_p.D300N	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	379					cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATCTGCGTGATTTTCGAGG	0.408																																																	0													137.0	122.0	127.0					22																	32889259		2203	4300	6503	SO:0001583	missense	0			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1135G>A	22.37:g.32889259G>A	ENSP00000266087:p.Asp379Asn		B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.D379N	ENST00000266087.7	37	c.1135	CCDS13907.1	22	.	.	.	.	.	.	.	.	.	.	G	32	5.176104	0.94846	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.55052	0.54;0.54;0.54	6.08	6.08	0.98989	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77133	-0.2700	10	0.72032	D	0.01	-25.1878	20.6634	0.99662	0.0:0.0:1.0:0.0	.	379;300;379	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	N	379;300;265	ENSP00000266087:D379N;ENSP00000371490:D300N;ENSP00000380571:D265N	ENSP00000266087:D379N	D	+	1	0	FBXO7	31219259	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.521000	0.81832	2.894000	0.99253	0.655000	0.94253	GAT	FBXO7	-	superfamily_F-box_dom	ENSG00000100225		0.408	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO7	HGNC	protein_coding	OTTHUMT00000129001.1	-	0.00	101	0	G			32889259	+1	tier1	-	no_errors	ENST00000266087	ensembl	human	known	74_37	missense	33.78	49	25	SNP	1.000	A
FGGY	55277	genome.wustl.edu	37	1	59787277	59787277	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:59787277C>T	ENST00000303721.7	+	2	230	c.56C>T	c.(55-57)aCa>aTa	p.T19I	FGGY_ENST00000371218.4_Missense_Mutation_p.T19I|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Missense_Mutation_p.T19I	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	19					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GACGTTGGAACAGGCAGTGTC	0.502																																																	0													88.0	83.0	85.0					1																	59787277		1568	3582	5150	SO:0001583	missense	0				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.56C>T	1.37:g.59787277C>T	ENSP00000305922:p.Thr19Ile		B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel	p.T19I	ENST00000303721.7	37	c.56	CCDS611.2	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797236	0.90538	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721;ENST00000371212	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.2	5.2	0.72013	Carbohydrate kinase, FGGY, N-terminal (1);	0.139715	0.46442	D	0.000298	D	0.92172	0.7518	H	0.96460	3.825	0.80722	D	1	D;D;D;D	0.89917	0.999;0.991;1.0;1.0	D;P;D;D	0.79784	0.988;0.898;0.991;0.993	D	0.94302	0.7538	9	.	.	.	-15.4734	18.9316	0.92568	0.0:1.0:0.0:0.0	.	19;19;19;19	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	I	19	ENSP00000406607:T19I;ENSP00000360262:T19I;ENSP00000305922:T19I;ENSP00000360256:T19I	.	T	+	2	0	FGGY	59559865	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	5.169000	0.64984	2.691000	0.91804	0.655000	0.94253	ACA	FGGY	-	pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel	ENSG00000172456		0.502	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGGY	HGNC	protein_coding	OTTHUMT00000023210.2	-	0.00	65	0	C	NM_001113411		59787277	+1	tier1	-	no_errors	ENST00000303721	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
FKBP1C	642489	genome.wustl.edu	37	6	63921604	63921604	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:63921604A>C	ENST00000370659.1	+	1	254	c.143A>C	c.(142-144)aAg>aCg	p.K48T	FKBP1C_ENST00000356170.3_Missense_Mutation_p.K32T					FK506 binding protein 1C											lung(3)	3						AAGCCCTTTAAGTTTATGCTA	0.507																																																	0																																										SO:0001583	missense	0					6q12	2013-01-16			ENSG00000198225	ENSG00000198225			21376	other	unknown							Standard	NG_008622		Approved	bA184C23.2			OTTHUMG00000014940	ENST00000370659.1:c.143A>C	6.37:g.63921604A>C	ENSP00000359693:p.Lys48Thr			Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	p.K48T	ENST00000370659.1	37	c.143		6	.	.	.	.	.	.	.	.	.	.	A	10.08	1.252695	0.22965	.	.	ENSG00000198225	ENST00000370659;ENST00000356170	D;D	0.85339	-1.97;-1.97	3.21	2.04	0.26737	.	0.000000	0.49916	D	0.000134	T	0.64394	0.2594	.	.	.	0.28672	N	0.905589	.	.	.	.	.	.	T	0.55823	-0.8080	7	0.31617	T	0.26	-27.0523	4.7777	0.13187	0.7252:0.0:0.2748:0.0	.	.	.	.	T	48;32	ENSP00000359693:K48T;ENSP00000348493:K32T	ENSP00000348493:K32T	K	+	2	0	FKBP1C	63979563	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.026000	0.30103	0.472000	0.27344	0.333000	0.21579	AAG	FKBP1C	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000198225		0.507	FKBP1C-001	KNOWN	basic|appris_principal	protein_coding	FKBP1C	HGNC	protein_coding	OTTHUMT00000041070.1	-	0.00	78	0	A	NG_008622		63921604	+1	tier1	-	no_errors	ENST00000370659	ensembl	human	known	74_37	missense	23.08	50	15	SNP	1.000	C
MACROD1	28992	genome.wustl.edu	37	11	63885044	63885044	+	Intron	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:63885044C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.G435G|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CGGGTGATGGCGCCAAGACCC	0.652																																																	0													32.0	31.0	31.0					11																	63885044		2201	4296	6497	SO:0001627	intron_variant	0			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33666G>A	11.37:g.63885044C>T			Q9UH96	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.G435	ENST00000255681.6	37	c.1305	CCDS8056.1	11																																																																																			FLRT1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000126500		0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT1	HGNC	protein_coding	OTTHUMT00000396570.1	-	0.00	25	0	C	NM_014067		63885044	+1	tier1	-	no_errors	ENST00000246841	ensembl	human	known	74_37	silent	85.71	3	18	SNP	0.000	T
FMO4	2329	genome.wustl.edu	37	1	171303708	171303708	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:171303708G>T	ENST00000367749.3	+	8	1316	c.986G>T	c.(985-987)gGa>gTa	p.G329V		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	329					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTCACTACAGGATATACATTT	0.353																																					Pancreas(24;816 862 7754 7993 32832)												0													94.0	97.0	96.0					1																	171303708		2203	4300	6503	SO:0001583	missense	0			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.986G>T	1.37:g.171303708G>T	ENSP00000356723:p.Gly329Val		Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3	p.G329V	ENST00000367749.3	37	c.986	CCDS1295.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691831	0.88735	.	.	ENSG00000076258	ENST00000367749	D	0.85955	-2.05	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96658	0.9487	10	0.87932	D	0	-17.5435	19.2618	0.93971	0.0:0.0:1.0:0.0	.	329	P31512	FMO4_HUMAN	V	329	ENSP00000356723:G329V	ENSP00000356723:G329V	G	+	2	0	FMO4	169570332	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.683000	0.98657	2.632000	0.89209	0.650000	0.86243	GGA	FMO4	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000076258		0.353	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO4	HGNC	protein_coding	OTTHUMT00000086223.1		0.00	79	0	G	NM_002022		171303708	+1			no_errors	ENST00000367749	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
FMN2	56776	genome.wustl.edu	37	1	240601495	240601495	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:240601495T>G	ENST00000319653.9	+	16	5275	c.5045T>G	c.(5044-5046)cTt>cGt	p.L1682R	FMN2_ENST00000545751.1_Missense_Mutation_p.L278R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1682	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGAACAAACTTCTTCTACAA	0.408																																																	0													108.0	107.0	107.0					1																	240601495		2203	4300	6503	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.5045T>G	1.37:g.240601495T>G	ENSP00000318884:p.Leu1682Arg		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.L1682R	ENST00000319653.9	37	c.5045	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.781531	0.31502	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.39592	1.07;1.07	5.91	4.76	0.60689	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (2);	0.000000	0.53938	D	0.000042	T	0.41558	0.1164	N	0.16478	0.41	0.80722	D	1	P;D;B	0.69078	0.93;0.997;0.128	P;D;B	0.63597	0.564;0.916;0.049	T	0.15694	-1.0428	10	0.12430	T	0.62	.	12.3508	0.55146	0.1266:0.0:0.0:0.8734	.	278;311;1682	B4DP05;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	R	1682;278;309;158	ENSP00000318884:L1682R;ENSP00000437918:L278R	ENSP00000318884:L1682R	L	+	2	0	FMN2	238668118	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.374000	0.44274	1.026000	0.39733	0.472000	0.43445	CTT	FMN2	-	smart_FH2_Formin	ENSG00000155816		0.408	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0.00	50	0	T	XM_371352		240601495	+1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	45.31	35	29	SNP	1.000	G
FNIP1	96459	genome.wustl.edu	37	5	131034664	131034664	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:131034664G>A	ENST00000510461.1	-	11	1243	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	FNIP1_ENST00000307968.7_Missense_Mutation_p.A355V|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.A338V|FNIP1_ENST00000511848.1_Missense_Mutation_p.A383V	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	383					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A383V(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTCTGACTGGCATCAGCTGA	0.353																																																	1	Substitution - Missense(1)	prostate(1)											145.0	137.0	140.0					5																	131034664		2203	4300	6503	SO:0001583	missense	0			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1148C>T	5.37:g.131034664G>A	ENSP00000421985:p.Ala383Val		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	NULL	p.A383V	ENST00000510461.1	37	c.1148	CCDS34227.1	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384746	0.82792	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.27	5.27	0.74061	.	.	.	.	.	T	0.30792	0.0776	L	0.29908	0.895	0.58432	D	0.999999	B;P;B;B	0.39480	0.29;0.675;0.29;0.234	B;B;B;B	0.41813	0.185;0.367;0.185;0.197	T	0.05099	-1.0906	9	0.49607	T	0.09	-0.4063	19.2391	0.93875	0.0:0.0:1.0:0.0	.	383;383;355;383	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	V	355;338;143;383;383	ENSP00000309266:A355V;ENSP00000310453:A338V;ENSP00000421985:A383V;ENSP00000425619:A383V	ENSP00000310453:A338V	A	-	2	0	FNIP1	131062563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.091000	0.71406	2.602000	0.87976	0.650000	0.86243	GCC	FNIP1	-	NULL	ENSG00000217128		0.353	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP1	HGNC	protein_coding	OTTHUMT00000370077.1		0.00	55	0	G	NM_133372		131034664	-1			no_errors	ENST00000510461	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A
FOLH1	2346	genome.wustl.edu	37	11	49168407	49168407	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:49168407T>G	ENST00000256999.2	-	19	2414	c.2154A>C	c.(2152-2154)aaA>aaC	p.K718N	FOLH1_ENST00000343844.4_Missense_Mutation_p.K410N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K672N|FOLH1_ENST00000340334.7_Missense_Mutation_p.K703N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K687N	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	718					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AAGGGTCCACTTTGCTTTCAA	0.468																																																	0													132.0	127.0	128.0					11																	49168407		2201	4298	6499	SO:0001583	missense	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.2154A>C	11.37:g.49168407T>G	ENSP00000256999:p.Lys718Asn		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.K718N	ENST00000256999.2	37	c.2154	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	T	9.145	1.014767	0.19355	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	3.4	2.25	0.28309	Transferrin receptor-like, dimerisation domain (3);	0.562819	0.16994	N	0.191188	T	0.40067	0.1102	L	0.41961	1.31	0.23132	N	0.998243	B;B;B;B	0.25312	0.123;0.066;0.024;0.003	B;B;B;B	0.24701	0.055;0.018;0.025;0.009	T	0.22906	-1.0203	10	0.30854	T	0.27	.	6.6989	0.23215	0.0:0.1222:0.0:0.8778	.	672;703;687;718	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	N	718;687;703;410;672	ENSP00000256999:K718N;ENSP00000349129:K687N;ENSP00000344131:K703N;ENSP00000344086:K410N;ENSP00000431463:K672N	ENSP00000256999:K718N	K	-	3	2	FOLH1	49124983	0.009000	0.17119	0.012000	0.15200	0.893000	0.52053	0.019000	0.13444	0.491000	0.27793	0.496000	0.49642	AAA	FOLH1	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom	ENSG00000086205		0.468	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0.00	112	0	T	NM_004476		49168407	-1	tier1	-	no_errors	ENST00000256999	ensembl	human	known	74_37	missense	23.19	53	16	SNP	0.317	G
GABRA6	2559	genome.wustl.edu	37	5	161117260	161117260	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:161117260T>G	ENST00000274545.5	+	7	1160	c.727T>G	c.(727-729)Ttc>Gtc	p.F243V	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.F233V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	243					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F243I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GATGGGCTACTTCATGATACA	0.403										TCGA Ovarian(5;0.080)																																							1	Substitution - Missense(1)	lung(1)											170.0	151.0	157.0					5																	161117260		2203	4300	6503	SO:0001583	missense	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.727T>G	5.37:g.161117260T>G	ENSP00000274545:p.Phe243Val		A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.F243V	ENST00000274545.5	37	c.727	CCDS4356.1	5	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417147	0.83449	.	.	ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000523691	D;D;D	0.86097	-2.07;-2.07;-2.07	5.31	5.31	0.75309	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.047153	0.85682	D	0.000000	D	0.90817	0.7116	M	0.82823	2.61	0.58432	D	0.999999	D	0.56287	0.975	P	0.55161	0.77	D	0.92339	0.5880	10	0.87932	D	0	.	15.2733	0.73723	0.0:0.0:0.0:1.0	.	243	Q16445	GBRA6_HUMAN	V	243;233;163	ENSP00000274545:F243V;ENSP00000430527:F233V;ENSP00000427989:F163V	ENSP00000274545:F243V	F	+	1	0	GABRA6	161049838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.946000	0.87746	2.016000	0.59253	0.533000	0.62120	TTC	GABRA6	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000145863		0.403	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	-	0.00	88	0	T			161117260	+1	tier1	-	no_errors	ENST00000274545	ensembl	human	known	74_37	missense	35.29	33	18	SNP	1.000	G
GABRG1	2565	genome.wustl.edu	37	4	46043126	46043126	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:46043126G>T	ENST00000295452.4	-	9	1444	c.1277C>A	c.(1276-1278)tCt>tAt	p.S426Y		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	426					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCCCTCCAAGATCCTGTTCT	0.418																																																	0													127.0	128.0	128.0					4																	46043126		2203	4300	6503	SO:0001583	missense	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1277C>A	4.37:g.46043126G>T	ENSP00000295452:p.Ser426Tyr		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S426Y	ENST00000295452.4	37	c.1277	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963924	0.74131	.	.	ENSG00000163285	ENST00000295452	D	0.83914	-1.78	5.49	5.49	0.81192	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.056249	0.64402	D	0.000001	T	0.81365	0.4807	L	0.39245	1.2	0.53688	D	0.999976	B	0.29188	0.236	B	0.35607	0.206	T	0.80540	-0.1337	10	0.72032	D	0.01	.	18.356	0.90357	0.0:0.0:1.0:0.0	.	426	Q8N1C3	GBRG1_HUMAN	Y	426	ENSP00000295452:S426Y	ENSP00000295452:S426Y	S	-	2	0	GABRG1	45737883	1.000000	0.71417	0.657000	0.29651	0.997000	0.91878	9.767000	0.98960	2.580000	0.87095	0.585000	0.79938	TCT	GABRG1	-	superfamily_Neurotrans-gated_channel_TM	ENSG00000163285		0.418	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	-	0.00	51	0	G	NM_173536		46043126	-1	tier1	-	no_errors	ENST00000295452	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.994	T
GALNT6	11226	genome.wustl.edu	37	12	51748202	51748202	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:51748202G>A	ENST00000543196.2	-	11	2035	c.1830C>T	c.(1828-1830)tgC>tgT	p.C610C	GALNT6_ENST00000356317.3_Silent_p.C610C			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	610	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACTGGGATTGCAGGGGGCCA	0.527																																																	0													76.0	73.0	74.0					12																	51748202		2203	4300	6503	SO:0001819	synonymous_variant	0			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1830C>T	12.37:g.51748202G>A			Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.C610	ENST00000543196.2	37	c.1830	CCDS8813.1	12																																																																																			GALNT6	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000139629		0.527	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT6	HGNC	protein_coding	OTTHUMT00000469735.1	-	0.00	75	0	G	NM_007210		51748202	-1	tier1	-	no_errors	ENST00000356317	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.995	A
GAS2L2	246176	genome.wustl.edu	37	17	34074129	34074129	+	Nonsense_Mutation	SNP	G	G	A	rs139340113		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:34074129G>A	ENST00000254466.6	-	5	1018	c.991C>T	c.(991-993)Cga>Tga	p.R331*	GAS2L2_ENST00000587565.1_Nonsense_Mutation_p.R315*	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	331					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCAGCCTTCGGTCTGAAGAG	0.632																																																	0								G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	61.0	59.0		991	4.1	1.0	17	dbSNP_134	59	0,8600		0,0,4300	yes	stop-gained	GAS2L2	NM_139285.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		331/881	34074129	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.991C>T	17.37:g.34074129G>A	ENSP00000254466:p.Arg331*		Q8NHY4	Nonsense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.R331*	ENST00000254466.6	37	c.991	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150553	0.78001	2.27E-4	0.0	ENSG00000132139	ENST00000254466	.	.	.	5.1	4.12	0.48240	.	0.280944	0.28754	N	0.014256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.48	12.138	0.53982	0.0:0.0:0.8286:0.1714	.	.	.	.	X	331	.	ENSP00000254466:R331X	R	-	1	2	GAS2L2	31098242	0.991000	0.36638	0.993000	0.49108	0.210000	0.24377	1.778000	0.38614	1.348000	0.45733	0.561000	0.74099	CGA	GAS2L2	-	NULL	ENSG00000132139		0.632	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	-	0.00	105	0	G	NM_139285		34074129	-1	tier1	rs139340113	no_errors	ENST00000254466	ensembl	human	known	74_37	nonsense	30.77	63	28	SNP	0.998	A
GATAD2A	54815	genome.wustl.edu	37	19	19613278	19613278	+	Missense_Mutation	SNP	G	G	A	rs372533863		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:19613278G>A	ENST00000360315.3	+	11	2026	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M	GATAD2A_ENST00000358713.3_Missense_Mutation_p.V572M|GATAD2A_ENST00000252577.5_Missense_Mutation_p.V547M|GATAD2A_ENST00000404158.1_Missense_Mutation_p.V573M|GATAD2A_ENST00000537887.1_Missense_Mutation_p.V201M|GATAD2A_ENST00000429563.2_Missense_Mutation_p.V375M	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	572					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						TGAGAGAACCGTGAGCGCCGG	0.642																																																	0								G	MET/VAL	0,4404		0,0,2202	73.0	81.0	78.0		1714	-0.1	0.0	19		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	GATAD2A	NM_017660.3	21	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	572/634	19613278	1,13003	2202	4300	6502	SO:0001583	missense	0			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1714G>A	19.37:g.19613278G>A	ENSP00000353463:p.Val572Met		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.V572M	ENST00000360315.3	37	c.1714	CCDS12402.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.213|4.213	0.038331|0.038331	0.08148|0.08148	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167491|ENSG00000167491	ENST00000418032|ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563	.|T;T;T;T	.|0.50277	.|1.42;1.34;1.42;0.75	5.11|5.11	-0.119|-0.119	0.13543|0.13543	.|.	.|0.693218	.|0.14709	.|N	.|0.303067	T|T	0.35566|0.35566	0.0936|0.0936	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.26041	.|0.021;0.14;0.122	.|B;B;B	.|0.17979	.|0.008;0.009;0.02	T|T	0.19192|0.19192	-1.0313|-1.0313	5|10	.|0.40728	.|T	.|0.16	-30.6749|-30.6749	5.3438|5.3438	0.15998|0.15998	0.252:0.2654:0.4825:0.0|0.252:0.2654:0.4825:0.0	.|.	.|375;592;572	.|B4DKZ7;B5MC40;Q86YP4	.|.;.;P66A_HUMAN	H|M	173|572;547;201;592;572;375	.|ENSP00000353463:V572M;ENSP00000252577:V547M;ENSP00000351552:V572M;ENSP00000388416:V375M	.|ENSP00000252577:V547M	R|V	+|+	2|1	0|0	GATAD2A|GATAD2A	19474278|19474278	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	0.185000|0.185000	0.16958|0.16958	-0.145000|-0.145000	0.11294|0.11294	-0.145000|-0.145000	0.13849|0.13849	CGT|GTG	GATAD2A	-	NULL	ENSG00000167491		0.642	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	HGNC	protein_coding	OTTHUMT00000326671.4	-	0.00	101	0	G	NM_017660		19613278	+1	tier1	-	no_errors	ENST00000358713	ensembl	human	known	74_37	missense	43.06	40	31	SNP	0.000	A
GCN1L1	10985	genome.wustl.edu	37	12	120589038	120589038	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:120589038C>A	ENST00000300648.6	-	34	4232	c.4220G>T	c.(4219-4221)gGc>gTc	p.G1407V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1407					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATGCCCAGGCCCTTCACCAG	0.602																																																	0													52.0	58.0	56.0					12																	120589038		2147	4241	6388	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4220G>T	12.37:g.120589038C>A	ENSP00000300648:p.Gly1407Val		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.G1407V	ENST00000300648.6	37	c.4220	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731122	0.89390	.	.	ENSG00000089154	ENST00000300648	T	0.63913	-0.07	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90770	0.4671	10	0.87932	D	0	-19.2162	18.9124	0.92491	0.0:1.0:0.0:0.0	.	1407	Q92616	GCN1L_HUMAN	V	1407	ENSP00000300648:G1407V	ENSP00000300648:G1407V	G	-	2	0	GCN1L1	119073421	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.583000	0.82559	2.490000	0.84030	0.561000	0.74099	GGC	GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	-	0.00	30	0	C			120589038	-1	tier1	-	no_errors	ENST00000300648	ensembl	human	known	74_37	missense	61.90	8	13	SNP	1.000	A
GEMIN4	50628	genome.wustl.edu	37	17	649797	649797	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:649797T>G	ENST00000319004.5	-	2	1604	c.1486A>C	c.(1486-1488)Aat>Cat	p.N496H	GEMIN4_ENST00000576778.1_Missense_Mutation_p.N485H	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	496					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGGACTTTATTTTTACCTGGC	0.527																																																	0													32.0	34.0	33.0					17																	649797		1918	4132	6050	SO:0001583	missense	0			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1486A>C	17.37:g.649797T>G	ENSP00000321706:p.Asn496His		Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	NULL	p.N496H	ENST00000319004.5	37	c.1486	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	T	16.70	3.194734	0.58017	.	.	ENSG00000179409	ENST00000319004	T	0.15834	2.39	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.25676	-1.0125	10	0.87932	D	0	-16.4683	15.5859	0.76482	0.0:0.0:0.0:1.0	.	496	P57678	GEMI4_HUMAN	H	496	ENSP00000321706:N496H	ENSP00000321706:N496H	N	-	1	0	GEMIN4	596547	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	7.633000	0.83260	2.333000	0.79357	0.482000	0.46254	AAT	GEMIN4	-	NULL	ENSG00000179409		0.527	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1	-	0.00	55	0	T	NM_015721		649797	-1	tier1	-	no_errors	ENST00000319004	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	G
GLI3	2737	genome.wustl.edu	37	7	42004239	42004239	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:42004239C>T	ENST00000395925.3	-	15	4516	c.4432G>A	c.(4432-4434)Gag>Aag	p.E1478K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1478					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GAAAGTAACTCAGAGTTTTTG	0.522									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													75.0	69.0	71.0					7																	42004239		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4432G>A	7.37:g.42004239C>T	ENSP00000379258:p.Glu1478Lys		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1478K	ENST00000395925.3	37	c.4432	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132658	0.37630	.	.	ENSG00000106571	ENST00000395925	T	0.13420	2.59	5.88	5.88	0.94601	.	0.157963	0.56097	D	0.000025	T	0.09730	0.0239	N	0.22421	0.69	0.80722	D	1	B	0.18863	0.031	B	0.12156	0.007	T	0.14117	-1.0484	10	0.07990	T	0.79	.	15.6948	0.77488	0.0:0.8639:0.1361:0.0	.	1478	P10071	GLI3_HUMAN	K	1478	ENSP00000379258:E1478K	ENSP00000379258:E1478K	E	-	1	0	GLI3	41970764	1.000000	0.71417	0.974000	0.42286	0.870000	0.49936	4.185000	0.58330	2.774000	0.95407	0.655000	0.94253	GAG	GLI3	-	NULL	ENSG00000106571		0.522	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0.00	42	0	C	NM_000168		42004239	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	missense	40.48	25	17	SNP	0.998	T
GLI3	2737	genome.wustl.edu	37	7	42079837	42079837	+	Splice_Site	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:42079837G>T	ENST00000395925.3	-	7	912	c.828C>A	c.(826-828)agC>agA	p.S276R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	276					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGAATCTGGTGCCTGTTATAT	0.458									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													95.0	92.0	93.0					7																	42079837		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.827-1C>A	7.37:g.42079837G>T			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S276R	ENST00000395925.3	37	c.828	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177576	0.57692	.	.	ENSG00000106571	ENST00000395925	T	0.70749	-0.51	5.96	5.09	0.68999	.	0.117593	0.85682	D	0.000000	T	0.70605	0.3243	L	0.50333	1.59	0.80722	D	1	P	0.48016	0.904	P	0.46362	0.514	T	0.73078	-0.4096	10	0.52906	T	0.07	.	15.2226	0.73324	0.0671:0.0:0.9329:0.0	.	276	P10071	GLI3_HUMAN	R	276	ENSP00000379258:S276R	ENSP00000379258:S276R	S	-	3	2	GLI3	42046362	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.845000	0.27668	1.538000	0.49270	-0.140000	0.14226	AGC	GLI3	-	NULL	ENSG00000106571		0.458	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3		0.00	40	0	G	NM_000168	Missense_Mutation	42079837	-1			no_errors	ENST00000395925	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
GLIPR1	11010	genome.wustl.edu	37	12	75875698	75875698	+	Missense_Mutation	SNP	C	C	A	rs148893348		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:75875698C>A	ENST00000266659.3	+	2	460	c.259C>A	c.(259-261)Cac>Aac	p.H87N	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	87	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.H87fs*33(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GAAGCCACCCCACAAGCTGCA	0.483																																																	1	Insertion - Frameshift(1)	large_intestine(1)						C	ASN/HIS	0,4406		0,0,2203	120.0	108.0	112.0		259	-8.5	0.0	12	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLIPR1	NM_006851.2	68	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	87/267	75875698	1,13005	2203	4300	6503	SO:0001583	missense	0			U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.259C>A	12.37:g.75875698C>A	ENSP00000266659:p.His87Asn		A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.H87N	ENST00000266659.3	37	c.259	CCDS9011.1	12	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675917	0.29783	0.0	1.16E-4	ENSG00000139278	ENST00000266659;ENST00000456650	T;T	0.48201	0.82;0.82	4.69	-8.5	0.00927	CAP domain (3);	2.924510	0.01105	N	0.005467	T	0.17704	0.0425	N	0.02708	-0.52	0.09310	N	1	B;B	0.14012	0.009;0.002	B;B	0.22753	0.041;0.007	T	0.12451	-1.0547	10	0.16896	T	0.51	.	2.8757	0.05630	0.1279:0.3307:0.1373:0.4041	.	87;87	F6VVE8;P48060	.;GLIP1_HUMAN	N	87	ENSP00000266659:H87N;ENSP00000391144:H87N	ENSP00000266659:H87N	H	+	1	0	GLIPR1	74161965	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	-3.213000	0.00555	-1.275000	0.02417	-2.157000	0.00329	CAC	GLIPR1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000139278		0.483	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1	HGNC	protein_coding	OTTHUMT00000405722.1		0.00	73	0	C	NM_006851		75875698	+1			no_errors	ENST00000266659	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.000	A
GMNN	51053	genome.wustl.edu	37	6	24780905	24780905	+	Silent	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:24780905A>G	ENST00000230056.3	+	3	398	c.66A>G	c.(64-66)ccA>ccG	p.P22P	GMNN_ENST00000356509.3_Silent_p.P22P	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	22					mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						GTTCTGTCCCAAGAAGAACTC	0.368																																																	0													112.0	107.0	108.0					6																	24780905		2203	4300	6503	SO:0001819	synonymous_variant	0			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.66A>G	6.37:g.24780905A>G			B3KMM8|Q9H1Z1	Silent	SNP	pfam_Geminin_fam	p.P22	ENST00000230056.3	37	c.66	CCDS4560.1	6																																																																																			GMNN	-	pfam_Geminin_fam	ENSG00000112312		0.368	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMNN	HGNC	protein_coding	OTTHUMT00000040021.2	-	0.00	50	0	A	NM_015895		24780905	+1	tier1	-	no_errors	ENST00000230056	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.999	G
GNAL	2774	genome.wustl.edu	37	18	11876682	11876682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr18:11876682delT	ENST00000423027.3	+	11	1315	c.994delT	c.(994-996)tttfs	p.F332fs	GNAL_ENST00000269162.5_Frame_Shift_Del_p.F332fs|GNAL_ENST00000535121.1_Frame_Shift_Del_p.F332fs|GNAL_ENST00000334049.6_Frame_Shift_Del_p.F409fs|GNAL_ENST00000602628.1_Frame_Shift_Del_p.F125fs			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	332					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CCGGGACCTGTTTTTGGTAAG	0.348																																																	0													157.0	143.0	148.0					18																	11876682		2203	4300	6503	SO:0001589	frameshift_variant	0			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.994delT	18.37:g.11876682delT	ENSP00000408489:p.Phe332fs		B7ZA26|Q86XU3	Frame_Shift_Del	DEL	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S	p.L410fs	ENST00000423027.3	37	c.1225	CCDS11852.1	18																																																																																			GNAL	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S	ENSG00000141404		0.348	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAL	HGNC	protein_coding	OTTHUMT00000254561.2		0.00	108	0	T	NM_182978, NM_002071		11876682	+1	tier1		no_errors	ENST00000334049	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	1.000	-
GOLGA6L2	283685	genome.wustl.edu	37	15	23686609	23686609	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:23686609C>T	ENST00000567107.1	-	8	1065	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.R338Q|GOLGA6L2_ENST00000345070.5_Missense_Mutation_p.R65Q			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	338	Glu-rich.									breast(1)|endometrium(7)	8						cttctgctcccgcagctcctt	0.612																																																	0																																										SO:0001583	missense	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1013G>A	15.37:g.23686609C>T	ENSP00000454407:p.Arg338Gln		A1L301	Missense_Mutation	SNP	prints_Tropomyosin	p.R338Q	ENST00000567107.1	37	c.1013		15	.	.	.	.	.	.	.	.	.	.	N	2.672	-0.277402	0.05679	.	.	ENSG00000174450	ENST00000345070;ENST00000312015	T;T	0.50001	0.76;2.9	.	.	.	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29274	-1.0017	3	0.05351	T	0.99	.	.	.	.	.	338	Q8N9W4	GG6L2_HUMAN	Q	65;338	ENSP00000344626:R65Q;ENSP00000307928:R338Q	ENSP00000307928:R338Q	R	-	2	0	GOLGA6L2	21237702	0.004000	0.15560	.	.	.	.	0.068000	0.14531	.	.	.	.	CGG	GOLGA6L2	-	NULL	ENSG00000174450		0.612	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	-	0.00	133	0	C	NM_182561		23686609	-1	tier1	-	no_errors	ENST00000312015	ensembl	human	known	74_37	missense	23.91	105	33	SNP	0.000	T
GON4L	54856	genome.wustl.edu	37	1	155734857	155734857	+	Silent	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:155734857G>T	ENST00000368331.1	-	21	4455	c.4407C>A	c.(4405-4407)acC>acA	p.T1469T	GON4L_ENST00000361040.5_Silent_p.T1469T|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.T1469T|GON4L_ENST00000271883.5_Silent_p.T1469T	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1469	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTCATCTTGGGTGAGGTCAT	0.483																																																	0													98.0	94.0	95.0					1																	155734857		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4407C>A	1.37:g.155734857G>T			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.T1469	ENST00000368331.1	37	c.4407		1																																																																																			GON4L	-	NULL	ENSG00000116580		0.483	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		-	0.00	82	0	G	NM_032292		155734857	-1	tier1	-	no_errors	ENST00000368331	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T
GPATCH2L	55668	genome.wustl.edu	37	14	76620929	76620929	+	Missense_Mutation	SNP	G	G	T	rs140112317		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:76620929G>T	ENST00000261530.7	+	2	289	c.223G>T	c.(223-225)Gac>Tac	p.D75Y	GPATCH2L_ENST00000556663.1_Missense_Mutation_p.D75Y|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.D75Y|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.D75Y	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	75								p.D75Y(2)									GGCCACTAAGGACTGTCGAGA	0.532																																																	2	Substitution - Missense(2)	lung(2)						G	TYR/ASP,TYR/ASP	1,4405	2.1+/-5.4	0,1,2202	76.0	69.0	71.0		223,223	5.4	1.0	14	dbSNP_134	71	0,8600		0,0,4300	no	missense,missense	C14orf118	NM_017926.2,NM_017972.2	160,160	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	75/483,75/478	76620929	1,13005	2203	4300	6503	SO:0001583	missense	0			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.223G>T	14.37:g.76620929G>T	ENSP00000261530:p.Asp75Tyr		B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	NULL	p.D75Y	ENST00000261530.7	37	c.223	CCDS9848.1	14	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527341	0.85706	2.27E-4	0.0	ENSG00000089916	ENST00000336993;ENST00000557542;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.58940	0.36;0.54;0.3;0.36	5.37	5.37	0.77165	.	0.315484	0.29940	N	0.010802	T	0.74527	0.3728	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.98;0.997;0.935	T	0.76550	-0.2918	10	0.87932	D	0	-39.1381	19.1142	0.93331	0.0:0.0:1.0:0.0	.	75;75;75	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	Y	75	ENSP00000451587:D75Y;ENSP00000323775:D75Y;ENSP00000261530:D75Y;ENSP00000450657:D75Y	ENSP00000261530:D75Y	D	+	1	0	C14orf118	75690682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.101000	0.94219	2.516000	0.84829	0.655000	0.94253	GAC	GPATCH2L	-	NULL	ENSG00000089916		0.532	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	GPATCH2L	HGNC	protein_coding	OTTHUMT00000413698.2		0.00	33	0	G	NM_017926		76620929	+1			no_errors	ENST00000261530	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
GPLD1	2822	genome.wustl.edu	37	6	24433598	24433598	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:24433598G>T	ENST00000230036.1	-	23	2488	c.2378C>A	c.(2377-2379)tCt>tAt	p.S793Y		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	793					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TACTTCAGGAGAAATCAATAC	0.303																																																	0													91.0	101.0	98.0					6																	24433598		2203	4300	6503	SO:0001583	missense	0			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.2378C>A	6.37:g.24433598G>T	ENSP00000230036:p.Ser793Tyr		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.S793Y	ENST00000230036.1	37	c.2378	CCDS4553.1	6	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767480	0.69878	.	.	ENSG00000112293	ENST00000230036	T	0.73258	-0.73	4.7	4.7	0.59300	.	0.081162	0.52532	D	0.000061	T	0.77758	0.4178	M	0.73962	2.25	0.80722	D	1	D	0.57257	0.979	P	0.57371	0.819	T	0.79690	-0.1698	10	0.56958	D	0.05	-18.2452	17.7732	0.88499	0.0:0.0:1.0:0.0	.	793	P80108	PHLD_HUMAN	Y	793	ENSP00000230036:S793Y	ENSP00000230036:S793Y	S	-	2	0	GPLD1	24541577	1.000000	0.71417	0.968000	0.41197	0.968000	0.65278	5.856000	0.69518	2.596000	0.87737	0.655000	0.94253	TCT	GPLD1	-	prints_Gprt_PLipase_D	ENSG00000112293		0.303	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	HGNC	protein_coding	OTTHUMT00000043315.1	-	0.00	116	0	G	NM_001503		24433598	-1	tier1	-	no_errors	ENST00000230036	ensembl	human	known	74_37	missense	55.56	52	65	SNP	1.000	T
GPR26	2849	genome.wustl.edu	37	10	125426536	125426536	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:125426536C>A	ENST00000284674.1	+	1	666	c.613C>A	c.(613-615)Cgc>Agc	p.R205S		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	205					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R205S(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCATTGCAAGCGCATCGACGT	0.632																																																	1	Substitution - Missense(1)	lung(1)											29.0	21.0	24.0					10																	125426536		2203	4300	6503	SO:0001583	missense	0				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.613C>A	10.37:g.125426536C>A	ENSP00000284674:p.Arg205Ser		Q2M2E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R205S	ENST00000284674.1	37	c.613	CCDS7636.1	10	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840928	0.71488	.	.	ENSG00000154478	ENST00000284674	T	0.71934	-0.61	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.071404	0.52532	D	0.000074	D	0.83857	0.5345	M	0.88979	2.995	0.58432	D	0.999995	D	0.69078	0.997	D	0.67103	0.949	D	0.86276	0.1664	10	0.72032	D	0.01	-20.6647	10.6801	0.45809	0.3298:0.6702:0.0:0.0	.	205	Q8NDV2	GPR26_HUMAN	S	205	ENSP00000284674:R205S	ENSP00000284674:R205S	R	+	1	0	GPR26	125416526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.248000	0.32827	2.067000	0.61834	0.655000	0.94253	CGC	GPR26	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM	ENSG00000154478		0.632	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR26	HGNC	protein_coding	OTTHUMT00000050850.1		0.00	40	0	C			125426536	+1			no_errors	ENST00000284674	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	90041004	90041004	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:90041004A>C	ENST00000405460.2	+	51	10787	c.10691A>C	c.(10690-10692)aAt>aCt	p.N3564T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3564	Calx-beta 23. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAAGCAAGAATTTAATAGCT	0.383																																																	0													201.0	191.0	194.0					5																	90041004		1832	4084	5916	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10691A>C	5.37:g.90041004A>C	ENSP00000384582:p.Asn3564Thr		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.N3564T	ENST00000405460.2	37	c.10691	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.972|0.972	-0.699704|-0.699704	0.03279|0.03279	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.25085	.|1.82	5.48|5.48	-0.92|-0.92	0.10475|0.10475	.|.	.|0.629040	.|0.18244	.|N	.|0.147142	T|T	0.09202|0.09202	0.0227|0.0227	N|N	0.12182|0.12182	0.205|0.205	0.52099|0.52099	D|D	0.999947|0.999947	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.04013	.|0.0;0.001	T|T	0.39781|0.39781	-0.9597|-0.9597	5|10	.|0.02654	.|T	.|1	.|.	6.4257|6.4257	0.21768|0.21768	0.2512:0.3148:0.434:0.0|0.2512:0.3148:0.434:0.0	.|.	.|3564;3564	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	L|T	1130|3564	.|ENSP00000384582:N3564T	.|ENSP00000296619:N3564T	I|N	+|+	1|2	0|0	GPR98|GPR98	90076760|90076760	0.024000|0.024000	0.19004|0.19004	0.892000|0.892000	0.35008|0.35008	0.775000|0.775000	0.43874|0.43874	0.220000|0.220000	0.17660|0.17660	-0.146000|-0.146000	0.11274|0.11274	-0.256000|-0.256000	0.11100|0.11100	ATT|AAT	GPR98	-	NULL	ENSG00000164199		0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0.00	53	0	A	NM_032119		90041004	+1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.642	C
GRAMD1A	57655	genome.wustl.edu	37	19	35514444	35514444	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:35514444T>C	ENST00000317991.5	+	19	2267	c.2075T>C	c.(2074-2076)cTg>cCg	p.L692P	GRAMD1A_ENST00000599564.1_Missense_Mutation_p.L775P|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.L454P|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.L681P	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	692						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTGGAGCTCCTGGATGAGGTA	0.682																																																	0													14.0	17.0	16.0					19																	35514444		1944	4123	6067	SO:0001583	missense	0			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.2075T>C	19.37:g.35514444T>C	ENSP00000441032:p.Leu692Pro		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.L692P	ENST00000317991.5	37	c.2075	CCDS42546.1	19	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907027	0.72868	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.74842	-0.88;0.17;0.17	4.24	4.24	0.50183	.	0.000000	0.64402	D	0.000009	D	0.82328	0.5013	L	0.60067	1.865	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;D	0.91635	0.997;0.993;0.999;0.997	D	0.83975	0.0329	10	0.87932	D	0	.	11.6034	0.51017	0.0:0.0:0.0:1.0	.	688;692;454;681	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2	.;GRM1A_HUMAN;.;.	P	774;454;692;681	ENSP00000423728:L454P;ENSP00000441032:L692P;ENSP00000439267:L681P	ENSP00000441032:L692P	L	+	2	0	GRAMD1A	40206284	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.736000	0.74811	1.898000	0.54952	0.477000	0.44152	CTG	GRAMD1A	-	NULL	ENSG00000089351		0.682	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	GRAMD1A	HGNC	protein_coding	OTTHUMT00000461557.1	-	0.00	33	0	T	NM_020895		35514444	+1	tier1	-	no_errors	ENST00000317991	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	C
GRIK2	2898	genome.wustl.edu	37	6	102134068	102134068	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:102134068T>G	ENST00000421544.1	+	6	1281	c.791T>G	c.(790-792)cTt>cGt	p.L264R	GRIK2_ENST00000369138.1_Missense_Mutation_p.L264R|GRIK2_ENST00000369137.3_Missense_Mutation_p.L264R|GRIK2_ENST00000358361.3_Missense_Mutation_p.L264R|GRIK2_ENST00000413795.1_Missense_Mutation_p.L264R|GRIK2_ENST00000369134.4_Missense_Mutation_p.L215R|GRIK2_ENST00000318991.6_Missense_Mutation_p.L264R	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	264					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTCTTTGCTCTTGATGTTGAG	0.368																																																	0													80.0	74.0	76.0					6																	102134068		2203	4300	6503	SO:0001583	missense	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.791T>G	6.37:g.102134068T>G	ENSP00000397026:p.Leu264Arg		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L264R	ENST00000421544.1	37	c.791	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	T	23.6	4.433824	0.83776	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.84	5.84	0.93424	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	T	0.48277	0.1491	M	0.83774	2.66	0.51012	D	0.999905	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.993	T	0.56329	-0.7997	10	0.87932	D	0	.	16.2302	0.82332	0.0:0.0:0.0:1.0	.	264;264;264	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	R	264;264;264;264;264;264;264;215;226	ENSP00000397026:L264R;ENSP00000405596:L264R;ENSP00000358134:L264R;ENSP00000351128:L264R;ENSP00000358133:L264R;ENSP00000313276:L264R;ENSP00000358130:L215R	ENSP00000313276:L264R	L	+	2	0	GRIK2	102240761	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.697000	0.84279	2.228000	0.72767	0.533000	0.62120	CTT	GRIK2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000164418		0.368	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	-	0.00	50	0	T			102134068	+1	tier1	-	no_errors	ENST00000421544	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	G
GRM4	2914	genome.wustl.edu	37	6	34003813	34003813	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:34003813G>A	ENST00000538487.2	-	9	2517	c.2074C>T	c.(2074-2076)Cgc>Tgc	p.R692C	GRM4_ENST00000455714.2_Missense_Mutation_p.R552C|GRM4_ENST00000374181.4_Missense_Mutation_p.R692C|GRM4_ENST00000609222.1_Missense_Mutation_p.R559C|GRM4_ENST00000544773.2_Missense_Mutation_p.R523C|GRM4_ENST00000535756.1_Missense_Mutation_p.R559C|GRM4_ENST00000374177.3_Missense_Mutation_p.R576C|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	692					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTGATGAAGCGTGGGGCACTG	0.617																																																	0													122.0	131.0	128.0					6																	34003813		2203	4300	6503	SO:0001583	missense	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2074C>T	6.37:g.34003813G>A	ENSP00000440556:p.Arg692Cys		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.R692C	ENST00000538487.2	37	c.2074	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842614	0.71488	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	4.89	4.02	0.46733	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92473	0.7610	M	0.83774	2.66	0.80722	D	1	B;B;D;D;B	0.89917	0.389;0.167;1.0;0.999;0.133	B;B;P;P;B	0.62014	0.083;0.053;0.897;0.828;0.052	D	0.93668	0.6987	10	0.87932	D	0	.	14.7465	0.69492	0.0:0.0:0.8544:0.1456	.	645;523;552;692;559	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	692;576;384;559;523;692;552	ENSP00000363296:R692C;ENSP00000363292:R576C;ENSP00000445533:R384C;ENSP00000437925:R559C;ENSP00000437730:R523C;ENSP00000440556:R692C;ENSP00000398456:R552C	ENSP00000363292:R576C	R	-	1	0	GRM4	34111791	0.864000	0.29904	0.998000	0.56505	0.944000	0.59088	2.825000	0.48096	1.272000	0.44329	0.462000	0.41574	CGC	GRM4	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000124493		0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	-	0.00	39	0	G			34003813	-1	tier1	-	no_errors	ENST00000374181	ensembl	human	known	74_37	missense	37.21	27	16	SNP	0.978	A
GRM1	2911	genome.wustl.edu	37	6	146720714	146720714	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:146720714C>T	ENST00000282753.1	+	7	2774	c.2539C>T	c.(2539-2541)Cgc>Tgc	p.R847C	GRM1_ENST00000492807.2_Missense_Mutation_p.R847C|GRM1_ENST00000392299.2_Missense_Mutation_p.R847C|GRM1_ENST00000355289.4_Missense_Mutation_p.R847C|GRM1_ENST00000507907.1_Missense_Mutation_p.R847C|GRM1_ENST00000361719.2_Missense_Mutation_p.R847C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	847					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GAGGAATGTCCGCAGTGCCTT	0.512																																																	0													106.0	87.0	93.0					6																	146720714		2203	4300	6503	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2539C>T	6.37:g.146720714C>T	ENSP00000282753:p.Arg847Cys		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.R847C	ENST00000282753.1	37	c.2539	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130361	0.77549	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.89617	-2.51;-2.54;-2.54;-2.51;-2.54;-2.54	5.68	5.68	0.88126	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94476	0.8222	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.94389	0.7612	10	0.72032	D	0.01	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	847;847;847	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	C	847	ENSP00000354896:R847C;ENSP00000376119:R847C;ENSP00000424095:R847C;ENSP00000282753:R847C;ENSP00000347437:R847C;ENSP00000425599:R847C	ENSP00000282753:R847C	R	+	1	0	GRM1	146762407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.686000	0.91538	0.585000	0.79938	CGC	GRM1	-	pfscan_GPCR_3_C	ENSG00000152822		0.512	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0.00	54	0	C	NM_000838		146720714	+1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	22.67	58	17	SNP	1.000	T
GRM5	2915	genome.wustl.edu	37	11	88240956	88240956	+	3'UTR	DEL	T	T	-			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:88240956delT	ENST00000418177.2	-	0	4810				GRM5_ENST00000455756.2_3'UTR|GRM5-AS1_ENST00000526448.1_RNA			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5						activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCAGAAAATATTTTTTTTGCT	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000418177.2:c.*804A>-	11.37:g.88240956delT			Q6J164	RNA	DEL	-	NULL	ENST00000418177.2	37	NULL	CCDS44694.1	11																																																																																			GRM5-AS1	-	-	ENSG00000255082		0.373	GRM5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5-AS1	HGNC	protein_coding			0.00	46	0	T	NM_000842		88240956	+1	tier1		no_errors	ENST00000526448	ensembl	human	known	74_37	rna	6.06	31	2	DEL	0.326	-
GUCY1B2	2974	genome.wustl.edu	37	13	51594609	51594609	+	RNA	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:51594609T>G	ENST00000493639.2	-	0	1357					NR_003923.2		O75343	GCYB2_HUMAN	guanylate cyclase 1, soluble, beta 2 (pseudogene)						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)										AAGGTCTCTGTTTTCTTCTTT	0.552																																																	0													209.0	179.0	188.0					13																	51594609		692	1591	2283			0			AF038499		13q14.3	2012-04-19	2012-04-19		ENSG00000123201	ENSG00000123201	4.6.1.2		4686	pseudogene	pseudogene		603695	"""guanylate cyclase 1, soluble, beta 2"""			9889008, 10449911	Standard	NR_003923		Approved	GC-SB2	uc010tgo.2	O75343	OTTHUMG00000016940		13.37:g.51594609T>G			Q9NZ64	RNA	SNP	-	NULL	ENST00000493639.2	37	NULL		13																																																																																			GUCY1B2	-	-	ENSG00000123201		0.552	GUCY1B2-001	KNOWN	basic	processed_transcript	GUCY1B2	HGNC	pseudogene	OTTHUMT00000045014.3	-	0.00	78	0	T			51594609	-1	tier1	-	no_errors	ENST00000389600	ensembl	human	known	74_37	rna	18.29	67	15	SNP	1.000	G
GYG2	8908	genome.wustl.edu	37	X	2773102	2773102	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:2773102G>A	ENST00000381163.3	+	6	768	c.486G>A	c.(484-486)ccG>ccA	p.P162P	GYG2-AS1_ENST00000445107.1_RNA|GYG2_ENST00000398806.3_Silent_p.P131P|GYG2_ENST00000338623.5_Silent_p.P162P|GYG2_ENST00000542787.1_Silent_p.P162P|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	162					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGGATGGCCGGATTGCTTCA	0.567																																																	0													107.0	90.0	96.0					X																	2773102		2203	4299	6502	SO:0001819	synonymous_variant	0			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.486G>A	X.37:g.2773102G>A			B7WNN6|O15485|O15486|O15487|O15489|O15490	Silent	SNP	pfam_Glyco_trans_8	p.P162	ENST00000381163.3	37	c.486	CCDS14121.1	X																																																																																			GYG2	-	pfam_Glyco_trans_8	ENSG00000056998		0.567	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	-	0.00	45	0	G	NM_003918		2773102	+1	tier1	-	no_errors	ENST00000381163	ensembl	human	known	74_37	silent	63.64	8	14	SNP	0.111	A
HADHB	3032	genome.wustl.edu	37	2	26502881	26502881	+	Silent	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:26502881A>G	ENST00000317799.5	+	10	935	c.831A>G	c.(829-831)aaA>aaG	p.K277K	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Silent_p.K154K|HADHB_ENST00000545822.1_Silent_p.K255K|HADHB_ENST00000537713.1_Silent_p.K262K	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	277			K -> R (in dbSNP:rs57969630).		cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTTACCAAAGATAATGGCA	0.368																																																	0													95.0	87.0	90.0					2																	26502881		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.831A>G	2.37:g.26502881A>G			B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Silent	SNP	pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,tigrfam_Thiolase	p.K277	ENST00000317799.5	37	c.831	CCDS1722.1	2																																																																																			HADHB	-	pfam_Thiolase_N,superfamily_Thiolase-like,tigrfam_Thiolase	ENSG00000138029		0.368	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADHB	HGNC	protein_coding	OTTHUMT00000214050.2	-	0.00	40	0	A	NM_000183		26502881	+1	tier1	-	no_errors	ENST00000317799	ensembl	human	known	74_37	silent	29.73	26	11	SNP	1.000	G
HDAC10	83933	genome.wustl.edu	37	22	50685323	50685323	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:50685323G>T	ENST00000216271.5	-	15	1847	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	HDAC10_ENST00000349505.4_Missense_Mutation_p.L479M|HDAC10_ENST00000498366.1_5'UTR|TUBGCP6_ENST00000439308.2_5'Flank|TUBGCP6_ENST00000248846.5_5'Flank|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.L449M	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	499					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTGGGACAGGCCTCTCCGA	0.597																																																	0													42.0	42.0	42.0					22																	50685323		2200	4299	6499	SO:0001583	missense	0			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1495C>A	22.37:g.50685323G>T	ENSP00000216271:p.Leu499Met		Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	pfam_His_deacetylse_dom,prints_His_deacetylse	p.L499M	ENST00000216271.5	37	c.1495	CCDS14088.1	22	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392140	0.42410	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.36520	1.25;1.25;1.25	5.18	1.86	0.25419	.	0.930262	0.09014	N	0.861159	T	0.53932	0.1827	M	0.73598	2.24	0.23411	N	0.997738	D;D;D;D	0.69078	0.997;0.997;0.996;0.997	D;D;D;D	0.66979	0.948;0.919;0.943;0.919	T	0.31971	-0.9924	10	0.56958	D	0.05	-9.3742	4.9362	0.13941	0.1968:0.1715:0.6318:0.0	.	479;449;499;499	Q969S8-2;C9J8B8;Q969S8-4;Q969S8	.;.;.;HDA10_HUMAN	M	499;449;479	ENSP00000216271:L499M;ENSP00000397542:L449M;ENSP00000343540:L479M	ENSP00000216271:L499M	L	-	1	2	HDAC10	49027450	0.005000	0.15991	0.004000	0.12327	0.099000	0.18886	0.418000	0.21230	0.297000	0.22615	0.655000	0.94253	CTG	HDAC10	-	NULL	ENSG00000100429		0.597	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC10	HGNC	protein_coding	OTTHUMT00000104141.4	-	0.00	47	0	G	NM_032019		50685323	-1	tier1	-	no_errors	ENST00000216271	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.017	T
HGFAC	3083	genome.wustl.edu	37	4	3443798	3443800	+	In_Frame_Del	DEL	CTG	CTG	-	rs372137428		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:3443798_3443800delCTG	ENST00000382774.3	+	1	185_187	c.70_72delCTG	c.(70-72)ctgdel	p.L29del	HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	29					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCCTCCTCCTGCTGCTGCTGC	0.714																																																	0										1,155,2800		0,0,1,8,139,1330						2.2	1.0			15	2,247,5979		0,0,2,8,231,2873	no	codingComplex	HGFAC	NM_001528.2		0,0,3,16,370,4203	A1A1,A1A2,A1R,A2A2,A2R,RR		3.9981,5.2774,4.4098				3,402,8779				SO:0001651	inframe_deletion	0			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.70_72delCTG	4.37:g.3443807_3443809delCTG	ENSP00000372224:p.Leu29del		Q14726|Q2M1W7|Q53X47	In_Frame_Del	DEL	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L27in_frame_del	ENST00000382774.3	37	c.70_72	CCDS3369.1	4																																																																																			HGFAC	-	pirsf_Coagulation_fac_XIIa/HGFA	ENSG00000109758		0.714	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3		0.00	58	0	CTG			3443800	+1	tier1		no_errors	ENST00000382774	ensembl	human	known	74_37	in_frame_del	7.14	26	2	DEL	0.997:0.997:0.998	-
HIST1H1B	3009	genome.wustl.edu	37	6	27834947	27834947	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:27834947G>A	ENST00000331442.3	-	1	412	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	121					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGGCTTTGGGCTTGGCTTCC	0.597																																																	0													83.0	98.0	93.0					6																	27834947		2203	4300	6503	SO:0001583	missense	0			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.361C>T	6.37:g.27834947G>A	ENSP00000330074:p.Pro121Ser		Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.P121S	ENST00000331442.3	37	c.361	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421635	0.25639	.	.	ENSG00000184357	ENST00000331442	T	0.14266	2.52	5.43	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.274773	0.25019	N	0.033766	T	0.08447	0.0210	M	0.63843	1.955	0.43814	D	0.996373	B	0.34103	0.437	B	0.32090	0.14	T	0.09357	-1.0678	10	0.22706	T	0.39	-22.4595	16.1014	0.81175	0.0:0.186:0.814:0.0	.	121	P16401	H15_HUMAN	S	121	ENSP00000330074:P121S	ENSP00000330074:P121S	P	-	1	0	HIST1H1B	27942926	1.000000	0.71417	0.972000	0.41901	0.147000	0.21601	2.633000	0.46519	2.716000	0.92895	0.655000	0.94253	CCC	HIST1H1B	-	NULL	ENSG00000184357		0.597	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	-	0.00	67	0	G	NM_005322		27834947	-1	tier1	-	no_errors	ENST00000331442	ensembl	human	known	74_37	missense	20.00	60	15	SNP	1.000	A
HMBS	3145	genome.wustl.edu	37	11	118962697	118962697	+	Intron	DEL	A	A	-	rs111268492		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:118962697delA	ENST00000278715.3	+	10	763				HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000537841.1_Intron|HMBS_ENST00000542729.1_Intron|HMBS_ENST00000442944.2_Intron|HMBS_ENST00000544387.1_Intron|HMBS_ENST00000543090.1_Intron|HMBS_ENST00000392841.1_Intron	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase						heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GAAAATTTACAAAAAAAAAAA	0.473																																																	0																																										SO:0001627	intron_variant	0			X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.613-138A>-	11.37:g.118962697delA			A8K2L0|G3V1P4|G5EA58|P08396|Q16012	RNA	DEL	-	NULL	ENST00000278715.3	37	NULL	CCDS8409.1	11																																																																																			HMBS	-	-	ENSG00000256269		0.473	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMBS	HGNC	protein_coding	OTTHUMT00000399188.1		0.00	22	0	A	NM_000190		118962697	+1	tier1		no_errors	ENST00000534956	ensembl	human	known	74_37	rna	45.45	6	5	DEL	0.013	-
HNF1A	6927	genome.wustl.edu	37	12	121435510	121435510	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:121435510G>T	ENST00000400024.2	+	7	1744	c.1543G>T	c.(1543-1545)Ggt>Tgt	p.G515C	HNF1A_ENST00000257555.6_Intron|HNF1A_ENST00000402929.1_3'UTR|RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Intron|HNF1A_ENST00000538626.1_Missense_Mutation_p.G97C|HNF1A_ENST00000544413.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	0					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGATGATAGAGGTTGGCTGTC	0.597									Hepatic Adenoma, Familial Clustering of																																								0													13.0	11.0	12.0					12																	121435510		2198	4297	6495	SO:0001583	missense	0	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000400024.2:c.1543G>T	12.37:g.121435510G>T	ENSP00000476181:p.Gly515Cys		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	pfam_HNF-1_N,pfam_HNF1b_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G515C	ENST00000400024.2	37	c.1543		12	.	.	.	.	.	.	.	.	.	.	G	4.429	0.079453	0.08533	.	.	ENSG00000135100	ENST00000340577	.	.	.	3.18	1.14	0.20703	.	.	.	.	.	T	0.24699	0.0599	.	.	.	0.09310	N	0.999998	B	0.34181	0.44	B	0.34038	0.174	T	0.23904	-1.0175	7	0.72032	D	0.01	.	3.2903	0.06947	0.1554:0.0:0.5985:0.2461	.	515	E7EUQ4	.	C	515	.	ENSP00000339938:G515C	G	+	1	0	HNF1A	119919893	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.121000	0.15667	0.275000	0.22094	-0.345000	0.07892	GGT	HNF1A	-	NULL	ENSG00000135100		0.597	HNF1A-002	KNOWN	basic	protein_coding	HNF1A	HGNC	protein_coding	OTTHUMT00000320958.3	-	0.00	78	0	G	NM_000545		121435510	+1	tier1	-	no_errors	ENST00000400024	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.000	T
HNF4A	3172	genome.wustl.edu	37	20	43048461	43048461	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:43048461G>A	ENST00000316099.4	+	7	926	c.837G>A	c.(835-837)ctG>ctA	p.L279L	HNF4A_ENST00000316673.4_Silent_p.L257L|HNF4A_ENST00000415691.2_Silent_p.L279L|HNF4A_ENST00000457232.1_Silent_p.L257L|HNF4A_ENST00000443598.2_Silent_p.L279L|HNF4A_ENST00000609795.1_Silent_p.L257L	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	279					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCAGGAGCTGCAGATCGATG	0.557																																					Colon(79;2 1269 8820 14841 52347)												0													172.0	128.0	143.0					20																	43048461		2203	4300	6503	SO:0001819	synonymous_variant	0			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.837G>A	20.37:g.43048461G>A			A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.L279	ENST00000316099.4	37	c.837	CCDS13330.1	20																																																																																			HNF4A	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	ENSG00000101076		0.557	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	-	0.00	43	0	G			43048461	+1	tier1	-	no_errors	ENST00000316099	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.962	A
HNRNPR	10236	genome.wustl.edu	37	1	23636407	23636407	+	3'UTR	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:23636407T>C	ENST00000374612.1	-	0	2565				HNRNPR_ENST00000478691.1_3'UTR|HNRNPR_ENST00000302271.6_3'UTR|HNRNPR_ENST00000374616.3_3'UTR|HNRNPR_ENST00000476660.1_5'UTR	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AGGGCAGATTTCAAAAAGGTG	0.299																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.*540A>G	1.37:g.23636407T>C			Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	RNA	SNP	-	NULL	ENST00000374612.1	37	NULL	CCDS232.1	1																																																																																			HNRNPR	-	-	ENSG00000125944		0.299	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	-	0.00	66	0	T	NM_005826		23636407	-1	tier1	-	no_errors	ENST00000476660	ensembl	human	known	74_37	rna	7.27	51	4	SNP	1.000	C
HSP90AA4P	3323	genome.wustl.edu	37	4	190395806	190395806	+	RNA	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:190395806A>C	ENST00000378770.1	+	0	798							Q58FG1	HS904_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)										gaagagaaaaagaaacaggaa	0.393																																																	0																																												0					4q35.2	2011-04-15	2011-04-15	2006-02-24	ENSG00000205100	ENSG00000205100			5255	pseudogene	pseudogene			"""heat shock 90kD protein 1, alpha-like 2"", ""heat shock 90kDa protein 1, alpha-like 2"""	HSPCAL2		1740332, 16269234	Standard	NG_003014		Approved			Q58FG1	OTTHUMG00000160204		4.37:g.190395806A>C				RNA	SNP	-	NULL	ENST00000378770.1	37	NULL		4																																																																																			HSP90AA4P	-	-	ENSG00000205100		0.393	HSP90AA4P-002	KNOWN	basic	processed_transcript	HSP90AA4P	HGNC	pseudogene	OTTHUMT00000359634.1	-	0.00	67	0	A	NG_003014		190395806	+1	tier1	-	no_errors	ENST00000378770	ensembl	human	known	74_37	rna	47.06	18	16	SNP	1.000	C
ICAM1	3383	genome.wustl.edu	37	19	10394884	10394884	+	Silent	SNP	G	G	A	rs200759542		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:10394884G>A	ENST00000264832.3	+	4	1138	c.813G>A	c.(811-813)tcG>tcA	p.S271S	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.S49S|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000393717.2_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	271	Ig-like C2-type 3.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	ACTCCTTCTCGGCCAAGGCCT	0.632																																																	0													80.0	60.0	67.0					19																	10394884		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.813G>A	19.37:g.10394884G>A			B2R6M3|Q5NKV7|Q96B50	Silent	SNP	pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM	p.S271	ENST00000264832.3	37	c.813	CCDS12231.1	19																																																																																			ICAM1	-	NULL	ENSG00000090339		0.632	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM1	HGNC	protein_coding	OTTHUMT00000451207.1	-	0.00	40	0	G			10394884	+1	tier1	rs200759542	no_errors	ENST00000264832	ensembl	human	known	74_37	silent	52.63	9	10	SNP	0.009	A
IGF2BP3	10643	genome.wustl.edu	37	7	23391117	23391117	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:23391117G>T	ENST00000258729.3	-	6	846	c.490C>A	c.(490-492)Ccc>Acc	p.P164T	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	164					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TGCTGCAAGGGGTTTTGCTGG	0.527																																																	0													37.0	42.0	40.0					7																	23391117		2203	4300	6503	SO:0001583	missense	0			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.490C>A	7.37:g.23391117G>T	ENSP00000258729:p.Pro164Thr		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.P164T	ENST00000258729.3	37	c.490	CCDS5382.1	7	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254815	0.22965	.	.	ENSG00000136231	ENST00000258729	T	0.14391	2.51	5.55	-2.22	0.06952	.	0.344032	0.38492	N	0.001673	T	0.07369	0.0186	L	0.36672	1.1	0.28154	N	0.929263	B	0.23540	0.087	B	0.23716	0.048	T	0.16305	-1.0407	10	0.41790	T	0.15	-23.0552	0.8303	0.01129	0.253:0.3063:0.2345:0.2062	.	164	O00425	IF2B3_HUMAN	T	164	ENSP00000258729:P164T	ENSP00000258729:P164T	P	-	1	0	IGF2BP3	23357642	0.621000	0.27077	0.016000	0.15963	0.603000	0.37013	0.286000	0.18902	-0.369000	0.08028	0.555000	0.69702	CCC	IGF2BP3	-	NULL	ENSG00000136231		0.527	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP3	HGNC	protein_coding	OTTHUMT00000250243.2		0.00	47	0	G	NM_006547		23391117	-1			no_errors	ENST00000258729	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.038	T
IGFALS	3483	genome.wustl.edu	37	16	1841564	1841564	+	Silent	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:1841564C>T	ENST00000215539.3	-	2	965	c.855G>A	c.(853-855)acG>acA	p.T285T	IGFALS_ENST00000415638.3_Silent_p.T323T			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	285					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GACCGGGGAACGTGTCCTCCA	0.701																																																	0																																										SO:0001819	synonymous_variant	0			M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.855G>A	16.37:g.1841564C>T			B4DZY8|E9PGU3	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T323	ENST00000215539.3	37	c.969	CCDS10446.1	16																																																																																			IGFALS	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000099769		0.701	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFALS	HGNC	protein_coding	OTTHUMT00000250509.2		0.00	52	0	C			1841564	-1			no_errors	ENST00000415638	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	T
IGHV1OR21-1	390530	genome.wustl.edu	37	21	10862898	10862898	+	RNA	SNP	A	A	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr21:10862898A>T	ENST00000559480.1	+	0	194							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CAAGGGCTTGAGTGGATGGGA	0.557																																																	0													214.0	207.0	209.0					21																	10862898		2162	4259	6421			0					21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862898A>T				Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E65V	ENST00000559480.1	37	c.194		21																																																																																			IGHV1OR21-1	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000169861		0.557	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IGHV1OR21-1	HGNC	IG_V_gene		-	0.00	136	0	A	NG_011680		10862898	+1	tier1	-	no_errors	ENST00000559480	ensembl	human	known	74_37	missense	22.31	101	29	SNP	1.000	T
ILDR2	387597	genome.wustl.edu	37	1	166908781	166908781	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:166908781A>T	ENST00000271417.3	-	4	581	c.526T>A	c.(526-528)Ttg>Atg	p.L176M	ILDR2_ENST00000528703.1_Missense_Mutation_p.L176M|ILDR2_ENST00000526687.1_Missense_Mutation_p.L176M|ILDR2_ENST00000529071.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.L176M	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	176					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AAACTGGGCAAGAGATCAGCA	0.438																																																	0													107.0	92.0	97.0					1																	166908781		2203	4300	6503	SO:0001583	missense	0			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.526T>A	1.37:g.166908781A>T	ENSP00000271417:p.Leu176Met			Missense_Mutation	SNP	pfam_LISCH7,smart_Ig_sub	p.L176M	ENST00000271417.3	37	c.526	CCDS1256.1	1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.469963	0.84533	.	.	ENSG00000143195	ENST00000271417;ENST00000469934;ENST00000526687;ENST00000528703	T;T;D;T	0.85861	-0.29;-0.13;-2.04;-0.62	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	D	0.89966	0.6868	M	0.62723	1.935	0.44085	D	0.996845	D	0.89917	1.0	D	0.87578	0.998	D	0.91154	0.4955	10	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	176	Q71H61	ILDR2_HUMAN	M	176	ENSP00000271417:L176M;ENSP00000437008:L176M;ENSP00000434273:L176M;ENSP00000432750:L176M	ENSP00000271417:L176M	L	-	1	2	ILDR2	165175405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.424000	0.73366	2.326000	0.78906	0.533000	0.62120	TTG	ILDR2	-	NULL	ENSG00000143195		0.438	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILDR2	HGNC	protein_coding	OTTHUMT00000082880.2	-	0.00	62	0	A	NM_199351		166908781	-1	tier1	-	no_errors	ENST00000271417	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
INVS	27130	genome.wustl.edu	37	9	103035315	103035315	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:103035315C>A	ENST00000262457.2	+	12	1926	c.1741C>A	c.(1741-1743)Ctc>Atc	p.L581I	INVS_ENST00000541287.1_Missense_Mutation_p.L485I|INVS_ENST00000262456.2_Missense_Mutation_p.L581I	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	581	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CAGGAAAAATCTCCTCATGAA	0.493																																																	0													135.0	129.0	131.0					9																	103035315		2203	4300	6503	SO:0001583	missense	0			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1741C>A	9.37:g.103035315C>A	ENSP00000262457:p.Leu581Ile		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.L581I	ENST00000262457.2	37	c.1741	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655411	0.88056	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.47528	0.84;0.85;0.99	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	L	0.51422	1.61	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.85130	0.992;0.997;0.928	T	0.58956	-0.7544	10	0.32370	T	0.25	.	19.2664	0.93988	0.0:1.0:0.0:0.0	.	485;581;581	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	I	581;485;581	ENSP00000262457:L581I;ENSP00000444454:L485I;ENSP00000262456:L581I	ENSP00000262456:L581I	L	+	1	0	INVS	102075136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.050000	0.71063	2.628000	0.89032	0.491000	0.48974	CTC	INVS	-	superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	ENSG00000119509		0.493	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	-	0.00	75	0	C	NM_014425		103035315	+1	tier1	-	no_errors	ENST00000262457	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	A
IP6K3	117283	genome.wustl.edu	37	6	33694507	33694507	+	Splice_Site	SNP	C	C	T	rs565789067		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:33694507C>T	ENST00000293756.4	-	4	916		c.e4+1		IP6K3_ENST00000451316.1_Splice_Site	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3						inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GGCAAGGATACGATGCCGCTT	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19167	0.0		0.0	False		,,,				2504	0.0																0													83.0	75.0	77.0					6																	33694507		2203	4300	6503	SO:0001630	splice_region_variant	0			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.589+1G>A	6.37:g.33694507C>T			Q96MQ9	Splice_Site	SNP	-	e3+1	ENST00000293756.4	37	c.589+1	CCDS34435.1	6	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391504	0.42410	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	.	.	.	5.24	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7983	0.63184	0.0:0.9255:0.0:0.0745	.	.	.	.	.	-1	.	.	.	-	.	.	IP6K3	33802485	1.000000	0.71417	0.999000	0.59377	0.212000	0.24457	5.636000	0.67848	1.218000	0.43458	0.462000	0.41574	.	IP6K3	-	-	ENSG00000161896		0.617	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K3	HGNC	protein_coding	OTTHUMT00000040203.1	-	0.00	91	0	C	NM_054111	Intron	33694507	-1	tier1	-	no_errors	ENST00000293756	ensembl	human	known	74_37	splice_site	6.31	104	7	SNP	1.000	T
IPP	3652	genome.wustl.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																																	0																																										SO:0001589	frameshift_variant	0			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs		A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,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.C388fs	ENST00000396478.3	37	c.1164_1163	CCDS30702.1	1																																																																																			IPP	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197429		0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3		0.00	41	0	AC	NM_005897		46184898	-1	tier1		no_errors	ENST00000396478	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	1.000:1.000	-
IREB2	3658	genome.wustl.edu	37	15	78783102	78783102	+	Splice_Site	SNP	G	G	T	rs372294150		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:78783102G>T	ENST00000258886.8	+	18	2472	c.2323G>T	c.(2323-2325)Ggc>Tgc	p.G775C		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	775					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GACAAACAGAGGGTATGTGTA	0.373																																					NSCLC(200;764 2208 35157 49871 50830)												0													203.0	209.0	207.0					15																	78783102		2196	4293	6489	SO:0001630	splice_region_variant	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2324+1G>T	15.37:g.78783102G>T			A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.G775C	ENST00000258886.8	37	c.2323	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995454	0.74703	.	.	ENSG00000136381	ENST00000258886	T	0.23552	1.9	6.07	6.07	0.98685	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.138028	0.64402	D	0.000002	T	0.56485	0.1988	H	0.94385	3.53	0.80722	D	1	D	0.61080	0.989	P	0.56563	0.801	T	0.67883	-0.5555	10	0.87932	D	0	.	13.7973	0.63180	0.0697:0.0:0.9303:0.0	.	775	P48200	IREB2_HUMAN	C	775	ENSP00000258886:G775C	ENSP00000258886:G775C	G	+	1	0	IREB2	76570157	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.440000	0.59975	2.885000	0.99019	0.650000	0.86243	GGC	IREB2	-	pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000136381		0.373	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	-	0.00	48	0	G	NM_004136	Missense_Mutation	78783102	+1	tier1	-	no_errors	ENST00000258886	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
IQGAP1	8826	genome.wustl.edu	37	15	91019911	91019911	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:91019911G>A	ENST00000268182.5	+	24	2925	c.2801G>A	c.(2800-2802)aGt>aAt	p.S934N	IQGAP1_ENST00000560738.1_Missense_Mutation_p.S362N	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	934					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTTCCCACAGTAAAAAACTT	0.373																																																	0													90.0	104.0	99.0					15																	91019911		2197	4298	6495	SO:0001583	missense	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2801G>A	15.37:g.91019911G>A	ENSP00000268182:p.Ser934Asn		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.S934N	ENST00000268182.5	37	c.2801	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422252	0.25639	.	.	ENSG00000140575	ENST00000268182	T	0.02197	4.4	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.01765	0.0056	N	0.05259	-0.085	0.80722	D	1	B	0.14805	0.011	B	0.15484	0.013	T	0.62950	-0.6745	10	0.15066	T	0.55	-19.9186	18.6103	0.91283	0.0:0.0:1.0:0.0	.	934	P46940	IQGA1_HUMAN	N	934	ENSP00000268182:S934N	ENSP00000268182:S934N	S	+	2	0	IQGAP1	88820915	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.725000	0.98778	2.639000	0.89480	0.655000	0.94253	AGT	IQGAP1	-	NULL	ENSG00000140575		0.373	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1		0.00	104	0	G	NM_003870		91019911	+1			no_errors	ENST00000268182	ensembl	human	known	74_37	missense	6.02	78	5	SNP	1.000	A
IRS2	8660	genome.wustl.edu	37	13	110436549	110436549	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:110436549C>T	ENST00000375856.3	-	1	2366	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	618					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGAGAGGACGCGGGGCAGGAC	0.692																																					Melanoma(100;613 2409 40847)												0													15.0	18.0	17.0					13																	110436549		2183	4292	6475	SO:0001583	missense	0			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.1852G>A	13.37:g.110436549C>T	ENSP00000365016:p.Ala618Thr		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.A618T	ENST00000375856.3	37	c.1852	CCDS9510.1	13	.	.	.	.	.	.	.	.	.	.	C	3.259	-0.151651	0.06585	.	.	ENSG00000185950	ENST00000375856	T	0.20598	2.06	3.19	3.19	0.36642	.	0.347136	0.30177	U	0.010222	T	0.36908	0.0984	L	0.56769	1.78	0.31520	N	0.66251	D	0.89917	1.0	D	0.73708	0.981	T	0.25398	-1.0133	10	0.19147	T	0.46	-15.2542	12.6661	0.56844	0.0:1.0:0.0:0.0	.	618	Q9Y4H2	IRS2_HUMAN	T	618	ENSP00000365016:A618T	ENSP00000365016:A618T	A	-	1	0	IRS2	109234550	0.104000	0.21937	0.357000	0.25798	0.775000	0.43874	0.252000	0.18278	2.072000	0.62099	0.549000	0.68633	GCG	IRS2	-	NULL	ENSG00000185950		0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	HGNC	protein_coding	OTTHUMT00000045755.1	-	0.00	21	0	C	NM_003749		110436549	-1	tier1	-	no_errors	ENST00000375856	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.886	T
IRX1	79192	genome.wustl.edu	37	5	3600784	3600784	+	Silent	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:3600784G>T	ENST00000302006.3	+	3	1426	c.1374G>T	c.(1372-1374)ccG>ccT	p.P458P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	458					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTTCCAGCCGGTACGCGACA	0.632																																																	0													47.0	51.0	50.0					5																	3600784		2203	4300	6503	SO:0001819	synonymous_variant	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1374G>T	5.37:g.3600784G>T			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.P458	ENST00000302006.3	37	c.1374	CCDS34132.1	5																																																																																			IRX1	-	NULL	ENSG00000170549		0.632	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	-	0.00	80	0	G	NM_024337		3600784	+1	tier1	-	no_errors	ENST00000302006	ensembl	human	known	74_37	silent	48.05	40	37	SNP	0.956	T
ITGA6	3655	genome.wustl.edu	37	2	173352291	173352291	+	Missense_Mutation	SNP	G	G	A	rs142894108		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:173352291G>A	ENST00000264106.6	+	17	2497	c.2294G>A	c.(2293-2295)tGt>tAt	p.C765Y	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_Missense_Mutation_p.C721Y|ITGA6_ENST00000375221.2_Missense_Mutation_p.C765Y|ITGA6_ENST00000409080.1_Missense_Mutation_p.C726Y|ITGA6_ENST00000264107.7_Missense_Mutation_p.C726Y|ITGA6_ENST00000409532.1_Missense_Mutation_p.C607Y			P23229	ITA6_HUMAN	integrin, alpha 6	765					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CAGTTGAGTTGTGTTGCCAAC	0.418																																																	0								G	TYR/CYS,TYR/CYS	1,4405	2.1+/-5.4	0,1,2202	67.0	69.0	68.0		2177,2177	5.6	1.0	2	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense	ITGA6	NM_000210.2,NM_001079818.1	194,194	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	726/1074,726/1092	173352291	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2294G>A	2.37:g.173352291G>A	ENSP00000264106:p.Cys765Tyr		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.C765Y	ENST00000264106.6	37	c.2294		2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506772	0.85282	2.27E-4	0.0	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	D;D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.92974	0.7764	M	0.89904	3.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;1.0	D	0.92698	0.6172	10	0.44086	T	0.13	.	19.6457	0.95776	0.0:0.0:1.0:0.0	.	721;765;726;726	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	Y	607;726;765;765;721;726;765;721	ENSP00000386614:C607Y;ENSP00000264107:C726Y;ENSP00000264106:C765Y;ENSP00000364369:C765Y;ENSP00000341078:C721Y;ENSP00000386896:C726Y;ENSP00000406694:C765Y;ENSP00000394169:C721Y	ENSP00000264106:C765Y	C	+	2	0	ITGA6	173060537	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.050000	0.93843	2.620000	0.88729	0.655000	0.94253	TGT	ITGA6	-	pfam_Integrin_alpha-2	ENSG00000091409		0.418	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding		-	0.00	63	0	G			173352291	+1	tier1	rs142894108	no_errors	ENST00000264106	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A
ITGAD	3681	genome.wustl.edu	37	16	31408920	31408920	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:31408920G>A	ENST00000389202.2	+	4	294	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	82					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.R82H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTTGCAGTCCGCCCTGAGGCC	0.657																																																	1	Substitution - Missense(1)	lung(1)											47.0	39.0	42.0					16																	31408920		2197	4300	6497	SO:0001583	missense	0			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.245G>A	16.37:g.31408920G>A	ENSP00000373854:p.Arg82His		Q15575|Q15576	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R82H	ENST00000389202.2	37	c.245	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442436	0.25987	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.71461	-0.57	4.26	2.25	0.28309	.	.	.	.	.	T	0.47691	0.1459	N	0.03608	-0.345	0.09310	N	1	B;D;D	0.56968	0.144;0.978;0.96	B;B;B	0.43194	0.01;0.411;0.411	T	0.40590	-0.9555	9	0.72032	D	0.01	.	9.0258	0.36230	0.1558:0.5434:0.3007:0.0	.	82;98;82	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	H	98;82	ENSP00000373854:R82H	ENSP00000373854:R82H	R	+	2	0	ITGAD	31316421	0.002000	0.14202	0.014000	0.15608	0.002000	0.02628	1.197000	0.32211	0.183000	0.20059	-1.966000	0.00469	CGC	ITGAD	-	NULL	ENSG00000156886		0.657	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	-	0.00	102	0	G	NM_005353		31408920	+1	tier1	-	no_errors	ENST00000389202	ensembl	human	known	74_37	missense	26.53	72	26	SNP	0.277	A
KCTD16	57528	genome.wustl.edu	37	5	143853531	143853531	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:143853531delA	ENST00000507359.3	+	3	2232	c.1141delA	c.(1141-1143)aaafs	p.K383fs	KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	383					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATGAGCAGCAAAAAAAAAGC	0.468																																																	0										51,4211		5,41,2085	53.0	63.0	59.0			4.8	1.0	5		61	75,8177		18,39,4069	no	frameshift	KCTD16	NM_020768.3		23,80,6154	A1A1,A1R,RR		0.9089,1.1966,1.0069			143853531	126,12388	2203	4300	6503	SO:0001589	frameshift_variant	0			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1141delA	5.37:g.143853531delA	ENSP00000426548:p.Lys383fs		Q9P2M9	Frame_Shift_Del	DEL	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.A384fs	ENST00000507359.3	37	c.1141	CCDS34260.1	5																																																																																			KCTD16	-	NULL	ENSG00000183775		0.468	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD16	HGNC	protein_coding	OTTHUMT00000371898.3		0.00	55	0	A	XM_098368		143853531	+1	tier1		no_errors	ENST00000507359	ensembl	human	known	74_37	frame_shift_del	9.09	50	5	DEL	1.000	-
ITK	3702	genome.wustl.edu	37	5	156608060	156608060	+	Silent	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:156608060G>T	ENST00000422843.3	+	1	224	c.72G>T	c.(70-72)tcG>tcT	p.S24S		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	24	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.S24S(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CTTCTCCCTCGAACTTTAAAG	0.423			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - coding silent(1)	large_intestine(1)											115.0	107.0	110.0					5																	156608060		2203	4300	6503	SO:0001819	synonymous_variant	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.72G>T	5.37:g.156608060G>T			B2R752|Q32ML7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.S24	ENST00000422843.3	37	c.72	CCDS4336.1	5																																																																																			ITK	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000113263		0.423	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0.00	50	0	G			156608060	+1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.020	T
KDM2A	22992	genome.wustl.edu	37	11	67023682	67023685	+	3'UTR	DEL	GGAG	GGAG	-	rs149878670|rs561772728		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	GGAG	GGAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:67023682_67023685delGGAG	ENST00000529006.2	+	0	5091_5094				KDM2A_ENST00000308783.5_3'UTR|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_3'UTR|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A						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						GCGTGTGTGTGGAGGGAGGGAGGG	0.603																																																	0																																										SO:0001624	3_prime_UTR_variant	0			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.*1159GGAG>-	11.37:g.67023690_67023693delGGAG			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	RNA	DEL	-	NULL	ENST00000529006.2	37	NULL	CCDS44657.1	11																																																																																			KDM2A	-	-	ENSG00000173120		0.603	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2		0.00	16	0	GGAG	NM_012308		67023685	+1	tier1		no_errors	ENST00000524657	ensembl	human	known	74_37	rna	15.79	16	3	DEL	0.010:0.034:0.048:0.412	-
KDELC2	143888	genome.wustl.edu	37	11	108352842	108352842	+	Silent	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:108352842G>T	ENST00000323468.5	-	4	857	c.792C>A	c.(790-792)ggC>ggA	p.G264G	KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000434945.2_Silent_p.G208G|KDELC2_ENST00000375648.1_Silent_p.G208G	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	264						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		AATCCAGAGAGCCACACCATG	0.453																																																	0													152.0	156.0	155.0					11																	108352842		1942	4135	6077	SO:0001819	synonymous_variant	0			AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.792C>A	11.37:g.108352842G>T			Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Silent	SNP	pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.G264	ENST00000323468.5	37	c.792	CCDS41711.1	11																																																																																			KDELC2	-	pfam_LipoPS_modifying,smart_LipoPS_modifying	ENSG00000178202		0.453	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC2	HGNC	protein_coding	OTTHUMT00000390273.1	-	0.00	62	0	G	NM_153705		108352842	-1	tier1	-	no_errors	ENST00000323468	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T
KDM4A	9682	genome.wustl.edu	37	1	44137265	44137265	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:44137265G>A	ENST00000372396.3	+	11	1587	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	485					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGCAGCAGCTGCCTTGGATCT	0.463																																																	0													97.0	97.0	97.0					1																	44137265		2203	4300	6503	SO:0001583	missense	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1453G>A	1.37:g.44137265G>A	ENSP00000361473:p.Ala485Thr		Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.A485T	ENST00000372396.3	37	c.1453	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512954	0.44660	.	.	ENSG00000066135	ENST00000372396	T	0.15372	2.43	5.48	5.48	0.80851	.	0.864020	0.10439	N	0.674499	T	0.19087	0.0458	L	0.36672	1.1	0.34360	D	0.690812	B	0.20261	0.043	B	0.24974	0.057	T	0.17349	-1.0372	10	0.23302	T	0.38	-6.1841	17.9039	0.88913	0.0:0.0:1.0:0.0	.	485	O75164	KDM4A_HUMAN	T	485	ENSP00000361473:A485T	ENSP00000361473:A485T	A	+	1	0	KDM4A	43909852	0.897000	0.30589	0.742000	0.31022	0.770000	0.43624	6.743000	0.74848	2.729000	0.93468	0.650000	0.86243	GCC	KDM4A	-	NULL	ENSG00000066135		0.463	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	-	0.00	62	0	G	NM_014663		44137265	+1	tier1	-	no_errors	ENST00000372396	ensembl	human	known	74_37	missense	51.61	15	16	SNP	0.824	A
KHDRBS3	10656	genome.wustl.edu	37	8	136619224	136619224	+	Silent	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:136619224T>C	ENST00000355849.5	+	7	1244	c.834T>C	c.(832-834)gcT>gcC	p.A278A	KHDRBS3_ENST00000520981.1_Silent_p.A51A	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	278	Tyr-rich.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATGGCACTGCTTATGATGAAC	0.383																																																	0													228.0	212.0	218.0					8																	136619224		2203	4300	6503	SO:0001819	synonymous_variant	0			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.834T>C	8.37:g.136619224T>C			Q6NUL8|Q9UPA8	Silent	SNP	smart_KH_dom	p.A278	ENST00000355849.5	37	c.834	CCDS6374.1	8																																																																																			KHDRBS3	-	NULL	ENSG00000131773		0.383	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	HGNC	protein_coding	OTTHUMT00000377529.1	-	0.00	74	0	T			136619224	+1	tier1	-	no_errors	ENST00000355849	ensembl	human	known	74_37	silent	44.26	34	27	SNP	0.994	C
KIAA0754	643314	genome.wustl.edu	37	1	39878348	39878348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:39878348C>A	ENST00000530275.1	+	1	2198	c.2003C>A	c.(2002-2004)tCa>tAa	p.S668*	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	668										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATTCAGATTCATTCCTAAAT	0.443																																																	0													57.0	58.0	58.0					1																	39878348		1890	4113	6003	SO:0001587	stop_gained	0					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2003C>A	1.37:g.39878348C>A	ENSP00000431179:p.Ser668*		E9PMC2|Q6ZSB2	Nonsense_Mutation	SNP	NULL	p.S668*	ENST00000530275.1	37	c.2003		1	.	.	.	.	.	.	.	.	.	.	C	37	6.129935	0.97310	.	.	ENSG00000255103	ENST00000530275	.	.	.	5.18	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6678	0.28441	0.0:0.7227:0.0:0.2773	.	.	.	.	X	668	.	ENSP00000431179:S668X	S	+	2	0	RP4-562N20.1	39650935	0.001000	0.12720	0.002000	0.10522	0.182000	0.23217	0.559000	0.23485	0.587000	0.29643	0.561000	0.74099	TCA	KIAA0754	-	NULL	ENSG00000255103		0.443	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1		0.00	33	0	C	NM_015038		39878348	+1			no_errors	ENST00000530275	ensembl	human	known	74_37	nonsense	15.38	11	2	SNP	0.001	A
KIAA0825	285600	genome.wustl.edu	37	5	93800647	93800647	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:93800647C>T	ENST00000513200.3	-	10	2062	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	KIAA0825_ENST00000312498.7_Missense_Mutation_p.E664K|KIAA0825_ENST00000427991.2_Missense_Mutation_p.E664K	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	664										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AAAGATTTCTCCAGCACTTCC	0.473																																																	0													49.0	43.0	44.0					5																	93800647		692	1591	2283	SO:0001583	missense	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.1990G>A	5.37:g.93800647C>T	ENSP00000424618:p.Glu664Lys		O94914|Q6ZNN2	Missense_Mutation	SNP	NULL	p.E664K	ENST00000513200.3	37	c.1990		5	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521405	0.85600	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498	T;T;T	0.47177	0.86;0.86;0.85	5.77	5.77	0.91146	.	0.342218	0.27415	N	0.019469	T	0.68439	0.3001	M	0.66939	2.045	0.37325	D	0.909705	D	0.89917	1.0	D	0.71414	0.973	T	0.69741	-0.5063	10	0.46703	T	0.11	.	19.9928	0.97374	0.0:1.0:0.0:0.0	.	664	Q8IV33	K0825_HUMAN	K	664	ENSP00000424618:E664K;ENSP00000400288:E664K;ENSP00000312205:E664K	ENSP00000312205:E664K	E	-	1	0	KIAA0825	93826403	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.420000	0.34804	2.745000	0.94114	0.650000	0.86243	GAG	KIAA0825	-	NULL	ENSG00000185261		0.473	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000254102.5	-	0.00	113	0	C	NM_173665		93800647	-1	tier1	-	no_errors	ENST00000427991	ensembl	human	known	74_37	missense	36.62	45	26	SNP	1.000	T
KIAA1324	57535	genome.wustl.edu	37	1	109730251	109730251	+	Intron	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:109730251C>T	ENST00000369939.3	+	9	1224				KIAA1324_ENST00000529753.1_Intron|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324						cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CACTTCTGTACCCAATgcagg	0.507																																																	0																																										SO:0001627	intron_variant	0			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1042-548C>T	1.37:g.109730251C>T			Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	RNA	SNP	-	NULL	ENST00000369939.3	37	NULL	CCDS794.1	1																																																																																			KIAA1324	-	-	ENSG00000116299		0.507	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1324	HGNC	protein_coding	OTTHUMT00000032389.2	-	0.00	51	0	C	NM_020775		109730251	+1	tier1	-	no_errors	ENST00000369938	ensembl	human	known	74_37	rna	8.16	45	4	SNP	0.001	T
RIC1	57589	genome.wustl.edu	37	9	5742916	5742916	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:5742916G>A	ENST00000414202.2	+	9	1140	c.949G>A	c.(949-951)Gac>Aac	p.D317N	KIAA1432_ENST00000251879.6_Missense_Mutation_p.D317N|KIAA1432_ENST00000381532.2_Missense_Mutation_p.D238N|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D238N|KIAA1432_ENST00000449720.2_Missense_Mutation_p.D238N	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATGGTCTCCTGACAATAGTGT	0.373																																																	0													152.0	154.0	153.0					9																	5742916		2203	4300	6503	SO:0001583	missense	0																														ENST00000414202.2:c.949G>A	9.37:g.5742916G>A	ENSP00000416696:p.Asp317Asn			Missense_Mutation	SNP	pfam_Ribosome_control_1,superfamily_WD40_repeat_dom	p.D238N	ENST00000414202.2	37	c.712	CCDS34982.2	9	.	.	.	.	.	.	.	.	.	.	G	35	5.477427	0.96291	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	T;T;T;T;T	0.73575	1.3;1.3;-0.76;-0.76;-0.76	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.974	D	0.86646	0.1895	10	0.66056	D	0.02	-22.4839	20.6721	0.99693	0.0:0.0:1.0:0.0	.	238;317;317	B7ZM67;Q4ADV7;G5E932	.;RIC1_HUMAN;.	N	317;317;238;238;238	ENSP00000251879:D317N;ENSP00000416696:D317N;ENSP00000370943:D238N;ENSP00000402240:D238N;ENSP00000398823:D238N	ENSP00000251879:D317N	D	+	1	0	KIAA1432	5732916	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.398000	0.97281	2.894000	0.99253	0.591000	0.81541	GAC	KIAA1432	-	superfamily_WD40_repeat_dom	ENSG00000107036		0.373	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1432	HGNC	protein_coding	OTTHUMT00000051636.3	-	0.00	120	0	G			5742916	+1	tier1	-	no_errors	ENST00000418622	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A
KIAA2018	205717	genome.wustl.edu	37	3	113377481	113377482	+	Frame_Shift_Ins	INS	-	-	T	rs78597857		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:113377481_113377482insT	ENST00000478658.1	-	5	3064_3065	c.3047_3048insA	c.(3046-3048)aacfs	p.N1016fs	KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.N1016fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1016						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.N1016fs*8(1)|p.N1016fs*9(1)|p.N1016fs*23(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTTCTGAGGGTTTTTTTTTTT	0.366																																																	3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	ovary(3)																																								SO:0001589	frameshift_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3048dupA	3.37:g.113377492_113377492dupT	ENSP00000420721:p.Asn1016fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N1016fs	ENST00000478658.1	37	c.3048_3047	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.366	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0.00	23	0	-	NM_001009899		113377482	-1	tier1		no_errors	ENST00000316407	ensembl	human	known	74_37	frame_shift_ins	14.81	23	4	INS	0.174:0.827	T
KIF21B	23046	genome.wustl.edu	37	1	200946364	200946364	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:200946364G>A	ENST00000422435.2	-	31	4617	c.4301C>T	c.(4300-4302)gCc>gTc	p.A1434V	KIF21B_ENST00000332129.2_Missense_Mutation_p.A1421V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A1421V|KIF21B_ENST00000461742.2_Missense_Mutation_p.A1434V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1434					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1421V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATGCGGACGGCATTGCCCGA	0.632																																																	1	Substitution - Missense(1)	lung(1)											123.0	114.0	117.0					1																	200946364		2203	4300	6503	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4301C>T	1.37:g.200946364G>A	ENSP00000411831:p.Ala1434Val		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.A1434V	ENST00000422435.2	37	c.4301	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027513	0.35797	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	4.88	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.198864	0.43579	D	0.000543	T	0.08044	0.0201	L	0.44542	1.39	0.29008	N	0.887052	B;B;B;B	0.31459	0.193;0.193;0.324;0.161	B;B;B;B	0.27715	0.082;0.082;0.082;0.049	T	0.07271	-1.0781	10	0.37606	T	0.19	.	18.0342	0.89294	0.0:0.0:1.0:0.0	.	1421;1434;1434;1421	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	1421;1421;1434;1434;1434	ENSP00000328494:A1421V;ENSP00000353724:A1421V;ENSP00000433808:A1434V;ENSP00000411831:A1434V	ENSP00000328494:A1421V	A	-	2	0	KIF21B	199212987	0.998000	0.40836	0.965000	0.40720	0.006000	0.05464	5.027000	0.64109	2.249000	0.74217	0.561000	0.74099	GCC	KIF21B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000116852		0.632	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1		0.00	44	0	G	XM_371332		200946364	-1			no_errors	ENST00000422435	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.986	A
KIF2B	84643	genome.wustl.edu	37	17	51900497	51900497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:51900497C>T	ENST00000268919.4	+	1	259	c.103C>T	c.(103-105)Cag>Tag	p.Q35*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	35					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTGGCGATCCAGCGCAGTGA	0.552																																																	0													135.0	110.0	119.0					17																	51900497		2203	4300	6503	SO:0001587	stop_gained	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.103C>T	17.37:g.51900497C>T	ENSP00000268919:p.Gln35*		Q96MA2|Q9BXG6	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q35*	ENST00000268919.4	37	c.103	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188039	0.57909	.	.	ENSG00000141200	ENST00000268919	.	.	.	4.96	1.56	0.23342	.	0.501510	0.16373	N	0.217228	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	8.3798	0.32463	0.2605:0.6197:0.1198:0.0	.	.	.	.	X	35	.	ENSP00000268919:Q35X	Q	+	1	0	KIF2B	49255496	0.997000	0.39634	0.993000	0.49108	0.101000	0.19017	0.752000	0.26362	0.276000	0.22118	0.655000	0.94253	CAG	KIF2B	-	NULL	ENSG00000141200		0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	-	0.00	69	0	C	NM_032559		51900497	+1	tier1	-	no_errors	ENST00000268919	ensembl	human	known	74_37	nonsense	61.67	23	37	SNP	1.000	T
KIF2B	84643	genome.wustl.edu	37	17	51900805	51900805	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:51900805C>A	ENST00000268919.4	+	1	567	c.411C>A	c.(409-411)agC>agA	p.S137R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	137					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGGTCCCCAGCAAACCTTGTC	0.582																																																	0													58.0	60.0	60.0					17																	51900805		2203	4300	6503	SO:0001583	missense	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.411C>A	17.37:g.51900805C>A	ENSP00000268919:p.Ser137Arg		Q96MA2|Q9BXG6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S137R	ENST00000268919.4	37	c.411	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694799	0.30052	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74002	-0.8	4.99	4.99	0.66335	.	0.000000	0.45361	D	0.000374	T	0.60741	0.2292	N	0.22421	0.69	0.32932	D	0.517247	B	0.20887	0.049	B	0.19148	0.024	T	0.63492	-0.6625	10	0.28530	T	0.3	.	13.9594	0.64170	0.0:1.0:0.0:0.0	.	137	Q8N4N8	KIF2B_HUMAN	R	137;60	ENSP00000268919:S137R	ENSP00000268919:S137R	S	+	3	2	KIF2B	49255804	0.911000	0.30947	0.962000	0.40283	0.934000	0.57294	1.689000	0.37700	2.739000	0.93911	0.655000	0.94253	AGC	KIF2B	-	NULL	ENSG00000141200		0.582	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	-	0.00	30	0	C	NM_032559		51900805	+1	tier1	-	no_errors	ENST00000268919	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.977	A
KIF2B	84643	genome.wustl.edu	37	17	51901908	51901908	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:51901908A>G	ENST00000268919.4	+	1	1670	c.1514A>G	c.(1513-1515)gAc>gGc	p.D505G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	505	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)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGCTCCGGGACTCCTTTATA	0.478																																																	0													55.0	53.0	54.0					17																	51901908		2203	4300	6503	SO:0001583	missense	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1514A>G	17.37:g.51901908A>G	ENSP00000268919:p.Asp505Gly		Q96MA2|Q9BXG6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D505G	ENST00000268919.4	37	c.1514	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132620	0.77662	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.21932	1.98	5.51	5.51	0.81932	Kinesin, motor domain (4);	0.000000	0.47093	D	0.000253	T	0.54498	0.1862	H	0.94582	3.555	0.53005	D	0.999969	D	0.60160	0.987	P	0.62491	0.903	T	0.67803	-0.5576	10	0.87932	D	0	.	13.2917	0.60274	1.0:0.0:0.0:0.0	.	505	Q8N4N8	KIF2B_HUMAN	G	505;393	ENSP00000268919:D505G	ENSP00000268919:D505G	D	+	2	0	KIF2B	49256907	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.188000	0.72045	2.210000	0.71456	0.533000	0.62120	GAC	KIF2B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000141200		0.478	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	-	0.00	40	0	A	NM_032559		51901908	+1	tier1	-	no_errors	ENST00000268919	ensembl	human	known	74_37	missense	37.50	15	9	SNP	1.000	G
KLHL31	401265	genome.wustl.edu	37	6	53516583	53516583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:53516583C>T	ENST00000407079.1	-	2	1717	c.1718G>A	c.(1717-1719)tGg>tAg	p.W573*	KLHL31_ENST00000370905.3_Nonsense_Mutation_p.W573*			Q9H511	KLH31_HUMAN	kelch-like family member 31	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCCCTCGTTCCAGCCCCCCAC	0.687																																																	0													66.0	60.0	62.0					6																	53516583		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1718G>A	6.37:g.53516583C>T	ENSP00000384644:p.Trp573*		A6N9J2|B2RP49	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.W573*	ENST00000407079.1	37	c.1718	CCDS34478.1	6	.	.	.	.	.	.	.	.	.	.	C	38	6.754681	0.97813	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	20.3473	0.98799	0.0:1.0:0.0:0.0	.	.	.	.	X	573	.	ENSP00000359942:W573X	W	-	2	0	KLHL31	53624542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.078000	0.71282	2.884000	0.98904	0.655000	0.94253	TGG	KLHL31	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000124743		0.687	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL31	HGNC	protein_coding	OTTHUMT00000040965.1	-	0.00	56	0	C	NM_001003760		53516583	-1	tier1	-	no_errors	ENST00000370905	ensembl	human	known	74_37	nonsense	67.27	18	37	SNP	1.000	T
KRTAP9-4	85280	genome.wustl.edu	37	17	39406094	39406094	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:39406094C>A	ENST00000334109.2	+	1	156	c.122C>A	c.(121-123)tCc>tAc	p.S41Y		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	41	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCCTCCTGCTGTGTT	0.632																																																	0													50.0	35.0	40.0					17																	39406094		2200	4292	6492	SO:0001583	missense	0			AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.122C>A	17.37:g.39406094C>A	ENSP00000334922:p.Ser41Tyr		Q0VAE3	Missense_Mutation	SNP	NULL	p.S41Y	ENST00000334109.2	37	c.122	CCDS11386.1	17	.	.	.	.	.	.	.	.	.	.	.	9.721	1.159769	0.21454	.	.	ENSG00000241595;ENSG00000198083	ENST00000334109;ENST00000431129	T	0.01258	5.09	2.62	-4.28	0.03732	.	.	.	.	.	T	0.02304	0.0071	M	0.66439	2.03	0.09310	N	1	P	0.50710	0.938	P	0.45856	0.495	T	0.19095	-1.0316	9	0.54805	T	0.06	.	6.764	0.23556	0.0:0.4995:0.2025:0.2979	.	41	Q9BYQ2	KRA94_HUMAN	Y	41	ENSP00000334922:S41Y	ENSP00000334922:S41Y	S	+	2	0	KRTAP9-4;KRTAP9-9	36659620	0.000000	0.05858	0.002000	0.10522	0.112000	0.19704	-0.357000	0.07651	-0.684000	0.05183	-0.723000	0.03601	TCC	KRTAP9-4	-	NULL	ENSG00000241595		0.632	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-4	HGNC	protein_coding	OTTHUMT00000257306.1	-	0.00	118	0	C			39406094	+1	tier1	-	no_errors	ENST00000334109	ensembl	human	known	74_37	missense	5.49	1291	75	SNP	0.009	A
LAMA1	284217	genome.wustl.edu	37	18	6995391	6995391	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr18:6995391C>T	ENST00000389658.3	-	34	4954	c.4861G>A	c.(4861-4863)Ggt>Agt	p.G1621S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1621	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCTGCAACACCTTCAAGCTTA	0.403																																																	0													214.0	198.0	204.0					18																	6995391		2203	4298	6501	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4861G>A	18.37:g.6995391C>T	ENSP00000374309:p.Gly1621Ser			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.G1621S	ENST00000389658.3	37	c.4861	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	2.393	-0.339462	0.05243	.	.	ENSG00000101680	ENST00000389658	T	0.08720	3.06	5.07	3.29	0.37713	Laminin I (1);	1.500750	0.03397	N	0.202701	T	0.08714	0.0216	L	0.36672	1.1	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.43426	-0.9392	10	0.13108	T	0.6	.	8.4525	0.32880	0.0:0.815:0.0:0.185	.	1621	P25391	LAMA1_HUMAN	S	1621	ENSP00000374309:G1621S	ENSP00000374309:G1621S	G	-	1	0	LAMA1	6985391	0.003000	0.15002	0.003000	0.11579	0.026000	0.11368	0.137000	0.15995	0.815000	0.34398	-0.145000	0.13849	GGT	LAMA1	-	pfam_Laminin_I	ENSG00000101680		0.403	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	85	0	C	NM_005559		6995391	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.009	T
LAMA1	284217	genome.wustl.edu	37	18	7010314	7010314	+	Missense_Mutation	SNP	T	T	G	rs201808882		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr18:7010314T>G	ENST00000389658.3	-	26	3851	c.3758A>C	c.(3757-3759)aAt>aCt	p.N1253T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1253	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGGCTCAAAATTGGAGGTGCC	0.453																																																	0													143.0	128.0	133.0					18																	7010314		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3758A>C	18.37:g.7010314T>G	ENSP00000374309:p.Asn1253Thr			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.N1253T	ENST00000389658.3	37	c.3758	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480588	0.44044	.	.	ENSG00000101680	ENST00000389658	T	0.35605	1.3	5.57	5.57	0.84162	Laminin B type IV (2);Laminin B, subgroup (1);	0.053759	0.64402	D	0.000001	T	0.47746	0.1462	L	0.53729	1.69	0.44555	D	0.997518	D	0.54047	0.964	P	0.58013	0.831	T	0.34354	-0.9832	10	0.10636	T	0.68	.	15.7322	0.77814	0.0:0.0:0.0:1.0	.	1253	P25391	LAMA1_HUMAN	T	1253	ENSP00000374309:N1253T	ENSP00000374309:N1253T	N	-	2	0	LAMA1	7000314	1.000000	0.71417	0.984000	0.44739	0.848000	0.48234	5.920000	0.70017	2.127000	0.65507	0.472000	0.43445	AAT	LAMA1	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000101680		0.453	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	69	0	T	NM_005559		7010314	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	50.00	11	11	SNP	0.995	G
LAYN	143903	genome.wustl.edu	37	11	111414699	111414699	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:111414699A>G	ENST00000375615.3	+	3	346	c.161A>G	c.(160-162)tAc>tGc	p.Y54C	LAYN_ENST00000375614.2_Missense_Mutation_p.Y46C|LAYN_ENST00000533265.1_Missense_Mutation_p.Y46C|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000436913.2_5'UTR|LAYN_ENST00000525126.1_Missense_Mutation_p.Y54C	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	54	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	AAAGTCATTTACTTCCATGAT	0.473																																					Ovarian(17;551 586 12136 22082 22900)												0													68.0	70.0	69.0					11																	111414699		2201	4297	6498	SO:0001583	missense	0				CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.161A>G	11.37:g.111414699A>G	ENSP00000364765:p.Tyr54Cys		A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.Y54C	ENST00000375615.3	37	c.161	CCDS58178.1	11	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004114	0.74932	.	.	ENSG00000204381	ENST00000375614;ENST00000375615;ENST00000525126;ENST00000533265;ENST00000541011	T;T;T;T	0.29655	3.6;1.56;1.56;3.81	4.5	4.5	0.54988	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.85682	D	0.000000	T	0.55465	0.1922	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.997	T	0.59478	-0.7447	10	0.51188	T	0.08	-14.7368	13.6499	0.62304	1.0:0.0:0.0:0.0	.	46;54;54;46	E9PMI0;Q6UX15;E9PQU7;Q6UX15-2	.;LAYN_HUMAN;.;.	C	46;54;54;46;46	ENSP00000364764:Y46C;ENSP00000364765:Y54C;ENSP00000434328:Y54C;ENSP00000434972:Y46C	ENSP00000364764:Y46C	Y	+	2	0	LAYN	110919909	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.761000	0.91691	1.882000	0.54519	0.379000	0.24179	TAC	LAYN	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000204381		0.473	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAYN	HGNC	protein_coding	OTTHUMT00000391187.1	-	0.00	46	0	A	NM_178834		111414699	+1	tier1	-	no_errors	ENST00000375615	ensembl	human	known	74_37	missense	20.69	46	12	SNP	1.000	G
LCA5L	150082	genome.wustl.edu	37	21	40800302	40800302	+	Missense_Mutation	SNP	G	G	A	rs370755758		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr21:40800302G>A	ENST00000358268.2	-	4	646	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	LCA5L_ENST00000485895.2_Missense_Mutation_p.R40W|LCA5L_ENST00000380671.2_Missense_Mutation_p.R40W|LCA5L_ENST00000288350.3_Missense_Mutation_p.R40W			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	40										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTACTGTTCCGTGAAAAATCG	0.408																																																	0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	110.0	112.0		118	-1.4	0.0	21		112	0,8600		0,0,4300	no	missense	LCA5L	NM_152505.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	40/671	40800302	1,13005	2203	4300	6503	SO:0001583	missense	0			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.118C>T	21.37:g.40800302G>A	ENSP00000351008:p.Arg40Trp		D3DSI0|Q3ZCT0	Missense_Mutation	SNP	NULL	p.R40W	ENST00000358268.2	37	c.118	CCDS13665.1	21	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852570	0.32699	2.27E-4	0.0	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268;ENST00000418018;ENST00000448288;ENST00000434281;ENST00000438404;ENST00000411566;ENST00000415863;ENST00000426783	T;T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.66;0.61;0.61;0.6;0.6;0.51;0.44	5.54	-1.44	0.08856	.	0.491121	0.19050	N	0.124065	T	0.33990	0.0882	N	0.25647	0.755	0.09310	N	1	B;B	0.19706	0.015;0.038	B;B	0.12156	0.007;0.007	T	0.12344	-1.0551	10	0.54805	T	0.06	-4.1343	1.5699	0.02612	0.1236:0.1535:0.2794:0.4435	.	40;40	C9JFB6;O95447	.;LCA5L_HUMAN	W	40	ENSP00000288350:R40W;ENSP00000370046:R40W;ENSP00000351008:R40W;ENSP00000404521:R40W;ENSP00000405598:R40W;ENSP00000400086:R40W;ENSP00000405130:R40W;ENSP00000412691:R40W;ENSP00000395593:R40W;ENSP00000414784:R40W	ENSP00000288350:R40W	R	-	1	2	LCA5L	39722172	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.443000	0.02405	-0.501000	0.06605	-1.072000	0.02254	CGG	LCA5L	-	NULL	ENSG00000157578		0.408	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	-	0.00	38	0	G	NM_152505		40800302	-1	tier1	-	no_errors	ENST00000288350	ensembl	human	known	74_37	missense	30.77	18	8	SNP	0.000	A
LCOR	84458	genome.wustl.edu	37	10	98715673	98715673	+	Missense_Mutation	SNP	C	C	A	rs200510779		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:98715673C>A	ENST00000371097.4	+	8	1842	c.1296C>A	c.(1294-1296)aaC>aaA	p.N432K	LCOR_ENST00000540664.1_Intron|LCOR_ENST00000371103.3_Missense_Mutation_p.N432K|LCOR_ENST00000356016.3_Missense_Mutation_p.N432K|LCOR_ENST00000498444.1_Intron			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	432					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		AATCAAAAAACGAGTAGGAAT	0.403																																																	0													34.0	33.0	33.0					10																	98715673		2203	4299	6502	SO:0001583	missense	0				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.1296C>A	10.37:g.98715673C>A	ENSP00000360138:p.Asn432Lys		D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.N432K	ENST00000371097.4	37	c.1296	CCDS7451.1	10	.	.	.	.	.	.	.	.	.	.	C	9.695	1.153017	0.21371	.	.	ENSG00000196233	ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.52	-5.99	0.02213	.	0.314809	0.38272	N	0.001756	T	0.30696	0.0773	N	0.08118	0	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.01401	-1.1364	9	0.36615	T	0.2	0.0015	14.4024	0.67056	0.0:0.2572:0.0:0.7428	.	432	Q96JN0	LCOR_HUMAN	K	432	.	ENSP00000348298:N432K	N	+	3	2	LCOR	98705663	0.797000	0.28877	0.774000	0.31636	0.993000	0.82548	-0.362000	0.07602	-1.293000	0.02362	-0.266000	0.10368	AAC	LCOR	-	NULL	ENSG00000196233		0.403	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	LCOR	HGNC	protein_coding	OTTHUMT00000049628.2		0.00	43	0	C			98715673	+1			no_errors	ENST00000356016	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.964	A
LCP2	3937	genome.wustl.edu	37	5	169695469	169695470	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:169695469_169695470insC	ENST00000046794.5	-	8	1155_1156	c.540_541insG	c.(538-543)gggaaafs	p.K181fs	LCP2_ENST00000521416.1_5'Flank	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	181					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)		TGGGGGGTTTTCCCAGAGGGGG	0.639											OREG0017023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0				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.541dupG	5.37:g.169695472_169695472dupC	ENSP00000046794:p.Lys181fs	1879	A8KA25|Q53XV4	Frame_Shift_Ins	INS	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.K180fs	ENST00000046794.5	37	c.541_540	CCDS47339.1	5																																																																																			LCP2	-	NULL	ENSG00000043462		0.639	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1		0.00	57	0	0	NM_005565		169695470	-1			no_errors	ENST00000046794	ensembl	human	known	74_37	frame_shift_ins	10.34	52	6	INS	0.099:0.088	C
LCT	3938	genome.wustl.edu	37	2	136567304	136567304	+	Silent	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:136567304A>C	ENST00000264162.2	-	8	2623	c.2613T>G	c.(2611-2613)acT>acG	p.T871T	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	871	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CAGATGGAAAAGTGAAGGCTC	0.483																																																	0													181.0	183.0	182.0					2																	136567304		2203	4300	6503	SO:0001819	synonymous_variant	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2613T>G	2.37:g.136567304A>C			Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.T871	ENST00000264162.2	37	c.2613	CCDS2178.1	2																																																																																			LCT	-	NULL	ENSG00000115850		0.483	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0.00	63	0	A	NM_002299		136567304	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	silent	14.89	40	7	SNP	0.000	C
LEF1	51176	genome.wustl.edu	37	4	108969352	108969353	+	3'UTR	INS	-	-	A	rs372117953|rs77399430		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:108969352_108969353insA	ENST00000265165.1	-	0	2415_2416				LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000379951.2_3'UTR	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1						alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TTTAAAAAAGCAAAAAAAAACG	0.262																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.*562->T	4.37:g.108969361_108969361dupA			B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	RNA	INS	-	NULL	ENST00000265165.1	37	NULL	CCDS3679.1	4																																																																																			LEF1	-	-	ENSG00000138795		0.262	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEF1	HGNC	protein_coding	OTTHUMT00000254749.2		0.00	47	0	-			108969353	-1	tier1		no_errors	ENST00000503879	ensembl	human	known	74_37	rna	14.81	23	4	INS	0.813:0.534	A
LMF2	91289	genome.wustl.edu	37	22	50942069	50942069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:50942069C>T	ENST00000474879.2	-	14	1890	c.1875G>A	c.(1873-1875)tgG>tgA	p.W625*	LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000216080.5_Nonsense_Mutation_p.W600*|LMF2_ENST00000380796.3_Nonsense_Mutation_p.W512*	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	625						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGAGCGAGTCCAGTGGAGGG	0.672																																																	0													17.0	23.0	21.0					22																	50942069		2192	4279	6471	SO:0001587	stop_gained	0			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1875G>A	22.37:g.50942069C>T	ENSP00000424381:p.Trp625*		A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Nonsense_Mutation	SNP	pfam_LMF	p.W625*	ENST00000474879.2	37	c.1875	CCDS14093.2	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.956536|3.956536	0.73902|0.73902	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000487499|ENST00000380796;ENST00000474879;ENST00000216080	.|.	.|.	.|.	5.33|5.33	4.3|4.3	0.51218|0.51218	.|.	.|0.316296	.|0.31772	.|N	.|0.007086	T|.	0.57946|.	0.2088|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53180|.	-0.8475|.	4|.	.|0.32370	.|T	.|0.25	-0.0108|-0.0108	9.2902|9.2902	0.37782|0.37782	0.0:0.9035:0.0:0.0965|0.0:0.9035:0.0:0.0965	.|.	.|.	.|.	.|.	N|X	632|512;625;600	.|.	.|ENSP00000216080:W600X	D|W	-|-	1|3	0|0	LMF2|LMF2	49288935|49288935	0.020000|0.020000	0.18652|0.18652	0.732000|0.732000	0.30844|0.30844	0.008000|0.008000	0.06430|0.06430	1.124000|1.124000	0.31320|0.31320	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	GAC|TGG	LMF2	-	NULL	ENSG00000100258		0.672	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	HGNC	protein_coding	OTTHUMT00000316833.2	-	0.00	83	0	C	NM_033200		50942069	-1	tier1	-	no_errors	ENST00000474879	ensembl	human	known	74_37	nonsense	28.57	55	22	SNP	0.425	T
LMO1	4004	genome.wustl.edu	37	11	8248574	8248574	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:8248574G>A	ENST00000335790.3	-	3	808	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	LMO1_ENST00000534484.1_Missense_Mutation_p.R94W|LMO1_ENST00000428101.2_Missense_Mutation_p.R104W	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	105	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		ACGTTGTCCCGGGCCCGCATC	0.632			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma																																	yes	Dom	yes		11	11p15	4004	LIM domain only 1 (rhombotin 1) (RBTN1)		L	0													55.0	63.0	61.0					11																	8248574		2110	4239	6349	SO:0001583	missense	0			M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.313C>T	11.37:g.8248574G>A	ENSP00000338207:p.Arg105Trp		E9PSF5|Q4VBC5|Q8IXR0	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R105W	ENST00000335790.3	37	c.313	CCDS44534.1	11	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102316	0.76983	.	.	ENSG00000166407	ENST00000335790;ENST00000428101;ENST00000534484	T;T;T	0.46451	0.87;0.87;0.87	5.58	3.58	0.41010	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.89840	3.065	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.72982	0.968;0.979	T	0.76987	-0.2755	10	0.87932	D	0	.	13.6124	0.62088	0.0:0.0:0.6119:0.3881	.	104;105	E9PSF5;P25800	.;RBTN1_HUMAN	W	105;104;94	ENSP00000338207:R105W;ENSP00000404538:R104W;ENSP00000435456:R94W	ENSP00000338207:R105W	R	-	1	2	LMO1	8205150	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.600000	0.67599	1.331000	0.45412	0.655000	0.94253	CGG	LMO1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000166407		0.632	LMO1-001	KNOWN	basic|CCDS	protein_coding	LMO1	HGNC	protein_coding	OTTHUMT00000386503.2	-	0.00	62	0	G	NM_002315		8248574	-1	tier1	-	no_errors	ENST00000335790	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	A
LMO7	4008	genome.wustl.edu	37	13	76195835	76195835	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:76195835G>T	ENST00000341547.4	+	1	1266	c.6G>T	c.(4-6)aaG>aaT	p.K2N	RP11-29G8.3_ENST00000563635.1_RNA|RP11-173B14.5_ENST00000568302.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.K2N|RP11-173B14.5_ENST00000568735.1_RNA|LMO7_ENST00000377534.3_Missense_Mutation_p.K2N	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	2					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K2N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTGCTATGAAGAAAATTAGGA	0.363																																																	2	Substitution - Missense(2)	large_intestine(2)											41.0	39.0	40.0					13																	76195835		2203	4300	6503	SO:0001583	missense	0			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.6G>T	13.37:g.76195835G>T	ENSP00000342112:p.Lys2Asn		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.K2N	ENST00000341547.4	37	c.6	CCDS9454.1	13	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632418	0.46944	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534	T;T;T	0.35789	1.29;1.35;1.4	5.22	2.09	0.27110	.	.	.	.	.	T	0.47303	0.1438	.	.	.	0.09310	N	1	D	0.64830	0.994	P	0.59424	0.857	T	0.28004	-1.0057	8	0.87932	D	0	.	5.2303	0.15418	0.4114:0.0:0.5886:0.0	.	2	Q8WWI1-3	.	N	2	ENSP00000342112:K2N;ENSP00000349571:K2N;ENSP00000366757:K2N	ENSP00000342112:K2N	K	+	3	2	LMO7	75093836	1.000000	0.71417	0.223000	0.23860	0.323000	0.28346	1.140000	0.31516	0.603000	0.29913	0.561000	0.74099	AAG	LMO7	-	NULL	ENSG00000136153		0.363	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045297.1		0.00	40	0	G	NM_005358		76195835	+1			no_errors	ENST00000357063	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.007	T
LMX1B	4010	genome.wustl.edu	37	9	129453223	129453223	+	Silent	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:129453223G>T	ENST00000373474.4	+	3	442	c.435G>T	c.(433-435)gtG>gtT	p.V145V	LMX1B_ENST00000526117.1_Silent_p.V145V|LMX1B_ENST00000355497.5_Silent_p.V145V|LMX1B_ENST00000561065.1_Silent_p.V122V|LMX1B_ENST00000425646.2_Silent_p.V122V			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	145	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCTGCTGCGTGTGTGAACGGC	0.632									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)												0													85.0	66.0	72.0					9																	129453223		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.435G>T	9.37:g.129453223G>T			F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.V145	ENST00000373474.4	37	c.435	CCDS55342.1	9																																																																																			LMX1B	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000136944		0.632	LMX1B-002	KNOWN	basic|CCDS	protein_coding	LMX1B	HGNC	protein_coding	OTTHUMT00000054123.2	-	0.00	88	0	G			129453223	+1	tier1	-	no_errors	ENST00000355497	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T
LOC100631378	100631378	genome.wustl.edu	37	19	38315139	38315139	+	lincRNA	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:38315139A>C	ENST00000592640.1	-	0	938				CTD-2554C21.2_ENST00000590433.1_lincRNA	NR_040015.1																						ATAGCTTGTAAAATGACCTCC	0.473																																																	0																																												0																															19.37:g.38315139A>C				RNA	SNP	-	NULL	ENST00000592640.1	37	NULL		19																																																																																			AC016582.2	-	-	ENSG00000225868		0.473	AC016582.2-001	KNOWN	basic	lincRNA	LOC100631378	Clone_based_vega_gene	lincRNA	OTTHUMT00000109619.2	-	0.00	89	0	A			38315139	-1	tier1	-	no_errors	ENST00000592640	ensembl	human	known	74_37	rna	32.84	45	22	SNP	0.000	C
LOC645166	645166	genome.wustl.edu	37	1	148951504	148951504	+	lincRNA	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:148951504G>A	ENST00000539543.1	+	0	514					NR_027355.2																						CACTGTCACTGGGGTTAGGGA	0.433																																																	0																																												0																															1.37:g.148951504G>A				RNA	SNP	-	NULL	ENST00000539543.1	37	NULL		1																																																																																			RP11-14N7.2	-	-	ENSG00000232527		0.433	RP11-14N7.2-201	KNOWN	basic	lincRNA	LOC100996735	Clone_based_vega_gene	lincRNA			0.00	21	0	G			148951504	+1			no_errors	ENST00000452399	ensembl	human	known	74_37	rna	12.00	22	3	SNP	0.373	A
GOLGA2P9	440518	genome.wustl.edu	37	19	22786284	22786284	+	RNA	SNP	G	G	T	rs141668737|rs191765466	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:22786284G>T	ENST00000599738.1	+	0	144				AC011467.1_ENST00000408863.1_RNA|RN7SL860P_ENST00000473738.2_RNA|CTC-457E21.3_ENST00000600260.1_RNA																							GGGAGGCTCCGCCCCCCCATG	0.552																																																	0																																												0																															19.37:g.22786284G>T				RNA	SNP	-	NULL	ENST00000599738.1	37	NULL		19																																																																																			CTC-457E21.3	-	-	ENSG00000269332		0.552	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	LOC440518	Clone_based_vega_gene	processed_transcript	OTTHUMT00000464575.1	-	0.00	16	0	G			22786284	+1	tier1	-	no_errors	ENST00000600260	ensembl	human	known	74_37	rna	26.67	11	4	SNP	0.034	T
LOC441666	441666	genome.wustl.edu	37	10	42832819	42832819	+	RNA	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:42832819G>A	ENST00000609841.1	-	0	1084					NR_024380.1																						TGTAGGGTTTGTCTCCAGTAT	0.348																																																	0																																												0																															10.37:g.42832819G>A				RNA	SNP	-	NULL	ENST00000609841.1	37	NULL		10																																																																																			RP11-313J2.1	-	-	ENSG00000215146		0.348	RP11-313J2.1-002	KNOWN	basic	processed_transcript	LOC441666	Clone_based_vega_gene	pseudogene	OTTHUMT00000472483.1	-	0.00	103	0	G			42832819	-1	tier1	-	no_errors	ENST00000609841	ensembl	human	known	74_37	rna	67.03	30	61	SNP	1.000	A
LOXL2	4017	genome.wustl.edu	37	8	23155563	23155563	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:23155563G>T	ENST00000389131.3	-	14	2687	c.2318C>A	c.(2317-2319)cCg>cAg	p.P773Q		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	773					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCTTTACTGCGGGGACAGCTG	0.532																																																	0													73.0	70.0	71.0					8																	23155563		2203	4300	6503	SO:0001583	missense	0			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2318C>A	8.37:g.23155563G>T	ENSP00000373783:p.Pro773Gln		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.P773Q	ENST00000389131.3	37	c.2318	CCDS34864.1	8	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080623	0.36758	.	.	ENSG00000134013	ENST00000389131	T	0.01178	5.22	5.43	2.56	0.30785	.	1.047670	0.07450	N	0.898815	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.24768	0.111	B	0.20184	0.028	T	0.50329	-0.8841	10	0.25751	T	0.34	.	7.0745	0.25197	0.0837:0.0:0.6112:0.3051	.	773	Q9Y4K0	LOXL2_HUMAN	Q	773	ENSP00000373783:P773Q	ENSP00000373783:P773Q	P	-	2	0	LOXL2	23211508	0.003000	0.15002	0.000000	0.03702	0.286000	0.27126	1.311000	0.33562	0.238000	0.21222	0.549000	0.68633	CCG	LOXL2	-	NULL	ENSG00000134013		0.532	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1		0.00	37	0	G			23155563	-1			no_errors	ENST00000389131	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.001	T
LRP1	4035	genome.wustl.edu	37	12	57587720	57587720	+	Missense_Mutation	SNP	G	G	A	rs372493625		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:57587720G>A	ENST00000243077.3	+	48	8309	c.7843G>A	c.(7843-7845)Ggg>Agg	p.G2615R	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2615	LDL-receptor class A 13. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGCCGGGACGGGACCTGCAT	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18359	0.0		0.0	False		,,,				2504	0.0																0								G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	101.0	92.0	95.0		7843	5.1	1.0	12		95	0,8600		0,0,4300	no	missense	LRP1	NM_002332.2	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2615/4545	57587720	1,13005	2203	4300	6503	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7843G>A	12.37:g.57587720G>A	ENSP00000243077:p.Gly2615Arg		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G2615R	ENST00000243077.3	37	c.7843	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991279	0.74703	2.27E-4	0.0	ENSG00000123384	ENST00000243077	D	0.92805	-3.11	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.95959	0.8684	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96114	0.9079	10	0.66056	D	0.02	.	17.4961	0.87718	0.0:0.0:1.0:0.0	.	2615	Q07954	LRP1_HUMAN	R	2615	ENSP00000243077:G2615R	ENSP00000243077:G2615R	G	+	1	0	LRP1	55873987	1.000000	0.71417	0.976000	0.42696	0.530000	0.34684	9.593000	0.98250	2.651000	0.90000	0.650000	0.86243	GGG	LRP1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000123384		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0.00	129	0	G	NM_002332		57587720	+1	tier1	-	no_errors	ENST00000243077	ensembl	human	known	74_37	missense	28.74	62	25	SNP	1.000	A
LRP1B	53353	genome.wustl.edu	37	2	141092037	141092037	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:141092037A>C	ENST00000389484.3	-	79	13179	c.12208T>G	c.(12208-12210)Tta>Gta	p.L4070V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4070					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)		GGTCTCTGTAAGTTCTTTTGT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													168.0	155.0	160.0					2																	141092037		2203	4300	6503	SO:0001583	missense	0			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.12208T>G	2.37:g.141092037A>C	ENSP00000374135:p.Leu4070Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L4070V	ENST00000389484.3	37	c.12208	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931168	0.52866	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97959	-4.63	6.08	1.16	0.20824	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.214881	0.28465	N	0.015254	D	0.94368	0.8189	L	0.47078	1.49	0.29658	N	0.84346	P	0.47604	0.898	P	0.45167	0.472	D	0.89612	0.3842	10	0.21014	T	0.42	.	4.0925	0.09976	0.5158:0.0:0.2536:0.2306	.	4070	Q9NZR2	LRP1B_HUMAN	V	4070;4008	ENSP00000374135:L4070V	ENSP00000374135:L4070V	L	-	1	2	LRP1B	140808507	0.997000	0.39634	0.976000	0.42696	0.949000	0.60115	1.476000	0.35420	0.180000	0.19960	-0.403000	0.06358	TTA	LRP1B	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000168702		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	88	0	A	NM_018557		141092037	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	18.46	53	12	SNP	0.732	C
LRP1B	53353	genome.wustl.edu	37	2	141232707	141232707	+	Splice_Site	SNP	C	C	T	rs77794732		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:141232707C>T	ENST00000389484.3	-	60	10596	c.9625G>A	c.(9625-9627)Gtc>Atc	p.V3209I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3209					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)	p.V3209F(2)		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)		CTGGACCAACCTTTGTGTCTA	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												2	Substitution - Missense(2)	lung(2)											77.0	73.0	74.0					2																	141232707		2203	4299	6502	SO:0001630	splice_region_variant	0			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.9625+1G>A	2.37:g.141232707C>T			Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V3209I	ENST00000389484.3	37	c.9625	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762279	0.69763	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91295	-2.82	5.72	5.72	0.89469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000003	D	0.93099	0.7803	L	0.39633	1.23	0.58432	D	0.999997	D	0.58970	0.984	D	0.68192	0.956	D	0.91614	0.5305	9	.	.	.	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	3209	Q9NZR2	LRP1B_HUMAN	I	3209;3147	ENSP00000374135:V3209I	.	V	-	1	0	LRP1B	140949177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.771000	0.85420	2.704000	0.92352	0.650000	0.86243	GTC	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt	ENSG00000168702		0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	38	0	C	NM_018557	Missense_Mutation	141232707	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	T
LRP1B	53353	genome.wustl.edu	37	2	141250214	141250214	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:141250214A>C	ENST00000389484.3	-	57	10054	c.9083T>G	c.(9082-9084)aTt>aGt	p.I3028S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3028					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)	p.I3028S(1)		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)		ATCAGTGCTAATTTTCCTTAT	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	large_intestine(1)											216.0	190.0	199.0					2																	141250214		2203	4300	6503	SO:0001583	missense	0			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.9083T>G	2.37:g.141250214A>C	ENSP00000374135:p.Ile3028Ser		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.I3028S	ENST00000389484.3	37	c.9083	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	A	19.24	3.788774	0.70337	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91996	-2.95	5.25	5.25	0.73442	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.086137	0.48767	D	0.000169	D	0.91195	0.7226	M	0.74389	2.26	0.41910	D	0.990468	B	0.33073	0.396	B	0.29785	0.107	D	0.91553	0.5258	10	0.87932	D	0	.	15.1304	0.72517	1.0:0.0:0.0:0.0	.	3028	Q9NZR2	LRP1B_HUMAN	S	3028;2966	ENSP00000374135:I3028S	ENSP00000374135:I3028S	I	-	2	0	LRP1B	140966684	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.246000	0.95438	1.985000	0.57927	0.377000	0.23210	ATT	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000168702		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	105	0	A	NM_018557		141250214	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	19.78	73	18	SNP	1.000	C
LRRK2	120892	genome.wustl.edu	37	12	40645048	40645048	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:40645048T>G	ENST00000298910.7	+	9	1031	c.973T>G	c.(973-975)Tta>Gta	p.L325V	LRRK2_ENST00000343742.2_Missense_Mutation_p.L325V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	325					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GACTATTTTCTTAAATCAAGA	0.284											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													28.0	29.0	29.0					12																	40645048		2197	4298	6495	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.973T>G	12.37:g.40645048T>G	ENSP00000298910:p.Leu325Val	895	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.L325V	ENST00000298910.7	37	c.973	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	T	14.36	2.510749	0.44660	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71698	2.2;-0.59	5.51	4.37	0.52481	Armadillo-type fold (1);	0.211078	0.31519	N	0.007518	T	0.59238	0.2179	L	0.54323	1.7	0.26406	N	0.976341	P	0.50156	0.932	B	0.36244	0.22	T	0.55068	-0.8198	10	0.37606	T	0.19	.	9.3868	0.38347	0.0:0.0828:0.0:0.9172	.	325	Q5S007	LRRK2_HUMAN	V	325	ENSP00000341930:L325V;ENSP00000298910:L325V	ENSP00000298910:L325V	L	+	1	2	LRRK2	38931315	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.128000	0.31369	0.930000	0.37217	-0.264000	0.10439	TTA	LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.284	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1		0.00	54	0	T	XM_058513		40645048	+1			no_errors	ENST00000298910	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	G
LAMTOR1	55004	genome.wustl.edu	37	11	71817232	71817232	+	5'Flank	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:71817232T>G	ENST00000278671.5	-	0	0				LAMTOR1_ENST00000535107.1_5'Flank|LRTOMT_ENST00000435085.1_Missense_Mutation_p.L112V|LRTOMT_ENST00000439209.1_Intron|LAMTOR1_ENST00000545249.1_5'Flank|LRTOMT_ENST00000307198.7_Missense_Mutation_p.L112V|snoU13_ENST00000459046.1_RNA|LAMTOR1_ENST00000538404.1_5'Flank|LRTOMT_ENST00000419228.1_Missense_Mutation_p.L72V	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1						cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)				cervix(1)	1						CTGCGAGTACTTGAGCCACAT	0.587																																																	0													30.0	34.0	33.0					11																	71817232		692	1591	2283	SO:0001631	upstream_gene_variant	0			AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"""p27kip1 releasing factor from RhoA"", ""protein associated with DRMs and endosomes"""	613510	"""chromosome 11 open reading frame 59"""	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869		11.37:g.71817232T>G	Exception_encountered		Q8WZ09|Q9NWT0	Missense_Mutation	SNP	pfam_O-MeTrfase_3	p.L112V	ENST00000278671.5	37	c.334	CCDS8209.1	11	.	.	.	.	.	.	.	.	.	.	T	9.033	0.987786	0.18966	.	.	ENSG00000184154	ENST00000419228;ENST00000435085;ENST00000307198	T;T;T	0.70986	-0.53;-0.53;-0.53	4.59	3.67	0.42095	.	.	.	.	.	T	0.69993	0.3173	L	0.43757	1.38	0.80722	D	1	P;D	0.56521	0.948;0.976	P;P	0.54499	0.754;0.741	T	0.65290	-0.6204	9	0.20519	T	0.43	-3.7682	11.942	0.52907	0.0:0.9118:0.0:0.0881	.	112;72	Q8WZ04;Q8WZ04-2	TOMT_HUMAN;.	V	72;112;112	ENSP00000392233:L72V;ENSP00000409789:L112V;ENSP00000305742:L112V	ENSP00000305742:L72V	L	+	1	2	LRTOMT	71494880	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.198000	0.42705	1.253000	0.44018	-0.464000	0.05259	TTG	LRTOMT	-	NULL	ENSG00000184154		0.587	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTOMT	HGNC	protein_coding	OTTHUMT00000396733.1	-	0.00	62	0	T	NM_017907		71817232	+1	tier1	-	no_errors	ENST00000307198	ensembl	human	known	74_37	missense	37.93	18	11	SNP	1.000	G
FYCO1	79443	genome.wustl.edu	37	3	45956999	45956999	+	IGR	DEL	G	G	-	rs137975488		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:45956999delG	ENST00000296137.2	-	0	8504				LZTFL1_ENST00000536047.1_5'UTR|LZTFL1_ENST00000539217.1_5'UTR	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1						plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AGCAGAAAGCGGGGGAGACCT	0.537																																																	0																																										SO:0001628	intergenic_variant	0			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447		3.37:g.45956999delG			B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Frame_Shift_Del	DEL	NULL	p.R38fs	ENST00000296137.2	37	c.112	CCDS2734.1	3																																																																																			LZTFL1	-	NULL	ENSG00000163818		0.537	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTFL1	HGNC	protein_coding	OTTHUMT00000257320.2		0.00	44	0	G	NM_024513		45956999	-1	tier1		no_errors	ENST00000418700	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.002	-
MAGEE1	57692	genome.wustl.edu	37	X	75650295	75650295	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:75650295A>G	ENST00000361470.2	+	1	2250	c.1972A>G	c.(1972-1974)Aga>Gga	p.R658G		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	658	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGGGGCCCAAGATCCCACCT	0.423																																																	0													42.0	39.0	40.0					X																	75650295		2203	4300	6503	SO:0001583	missense	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1972A>G	X.37:g.75650295A>G	ENSP00000354912:p.Arg658Gly		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R658G	ENST00000361470.2	37	c.1972	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	A	7.488	0.650080	0.14516	.	.	ENSG00000198934	ENST00000361470	T	0.22743	1.94	2.34	-2.27	0.06846	.	.	.	.	.	T	0.47783	0.1464	M	0.92026	3.265	0.09310	N	1	D	0.65815	0.995	D	0.70016	0.967	T	0.36311	-0.9753	9	0.72032	D	0.01	.	8.2952	0.31982	0.41:0.59:0.0:0.0	.	658	Q9HCI5	MAGE1_HUMAN	G	658	ENSP00000354912:R658G	ENSP00000354912:R658G	R	+	1	2	MAGEE1	75566699	0.924000	0.31332	0.034000	0.17996	0.317000	0.28152	-0.147000	0.10234	-0.761000	0.04670	-0.387000	0.06579	AGA	MAGEE1	-	pfam_MAGE,pfscan_MAGE	ENSG00000198934		0.423	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	-	0.00	27	0	A	NM_020932		75650295	+1	tier1	-	no_errors	ENST00000361470	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.025	G
MAGEC3	139081	genome.wustl.edu	37	X	140985396	140985396	+	Intron	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:140985396T>G	ENST00000298296.1	+	8	1728				MAGEC3_ENST00000544766.1_Missense_Mutation_p.F320V|MAGEC3_ENST00000409007.1_Missense_Mutation_p.F320V|MAGEC3_ENST00000443323.2_Missense_Mutation_p.F240V|MAGEC3_ENST00000536088.1_Missense_Mutation_p.F320V	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACGTTATGAATTTTTGTGGGG	0.483																																																	0													64.0	67.0	66.0					X																	140985396		2203	4300	6503	SO:0001627	intron_variant	0			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1729-19T>G	X.37:g.140985396T>G			Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.F320V	ENST00000298296.1	37	c.958	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	t	11.65	1.702997	0.30232	.	.	ENSG00000165509	ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	1.25	1.25	0.21368	.	.	.	.	.	T	0.26268	0.0641	H	0.96015	3.755	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06534	-1.0821	8	.	.	.	.	4.2608	0.10740	0.0:0.0:0.0:1.0	.	320	Q3SYA7	.	V	320;240;320;320	ENSP00000441107:F320V;ENSP00000438254:F240V;ENSP00000440444:F320V;ENSP00000386566:F320V	.	F	+	1	0	MAGEC3	140813062	0.067000	0.21026	0.006000	0.13384	0.029000	0.11900	1.809000	0.38922	0.737000	0.32582	0.235000	0.17854	TTT	MAGEC3	-	pfam_MAGE,pfscan_MAGE	ENSG00000165509		0.483	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0.00	44	0	T	NM_138702		140985396	+1	tier1	-	no_errors	ENST00000536088	ensembl	human	known	74_37	missense	45.45	24	20	SNP	0.006	G
MAPK7	5598	genome.wustl.edu	37	17	19283228	19283228	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:19283228G>T	ENST00000308406.5	+	3	752	c.366G>T	c.(364-366)agG>agT	p.R122S	B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.R122S|MAPK7_ENST00000395604.3_Missense_Mutation_p.R122S|MAPK7_ENST00000299612.7_Intron|B9D1_ENST00000575403.1_5'Flank|B9D1_ENST00000468679.3_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for binding to MAP2K5. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ACATCCTGAGGCCCACCGTGC	0.527																																																	0													105.0	88.0	94.0					17																	19283228		2203	4300	6503	SO:0001583	missense	0			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.366G>T	17.37:g.19283228G>T	ENSP00000311005:p.Arg122Ser		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R122S	ENST00000308406.5	37	c.366	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064266	0.55432	.	.	ENSG00000166484	ENST00000308406;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	4.18	3.21	0.36854	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.172440	0.52532	D	0.000079	T	0.53012	0.1770	L	0.33093	0.98	0.38117	D	0.937758	B	0.27853	0.191	B	0.36719	0.231	T	0.56384	-0.7988	10	0.46703	T	0.11	-10.0641	9.9821	0.41819	0.1004:0.0:0.8996:0.0	.	122	Q13164	MK07_HUMAN	S	122	ENSP00000311005:R122S;ENSP00000412902:R122S;ENSP00000378968:R122S;ENSP00000378966:R122S	ENSP00000311005:R122S	R	+	3	2	MAPK7	19223821	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.359000	0.52292	1.117000	0.41842	-0.379000	0.06801	AGG	MAPK7	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000166484		0.527	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	-	0.00	50	0	G	NM_139033		19283228	+1	tier1	-	no_errors	ENST00000308406	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T
MEG3	55384	genome.wustl.edu	37	14	101302337	101302337	+	RNA	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:101302337G>A	ENST00000554041.1	-	0	143																											AACCCAGCCCGTTGCTGCTTT	0.622																																																	0																																												0																															14.37:g.101302337G>A				RNA	SNP	-	NULL	ENST00000554041.1	37	NULL		14																																																																																			MEG3	-	-	ENSG00000214548		0.622	RP11-123M6.2-001	KNOWN	basic	antisense	MEG3	HGNC	antisense	OTTHUMT00000414687.1	-	0.00	67	0	G			101302337	+1	tier1	-	no_errors	ENST00000455531	ensembl	human	known	74_37	rna	26.32	28	10	SNP	0.000	A
MGA	23269	genome.wustl.edu	37	15	42042674	42042674	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:42042674G>C	ENST00000570161.1	+	16	6869	c.6869G>C	c.(6868-6870)gGg>gCg	p.G2290A	MGA_ENST00000219905.7_Missense_Mutation_p.G2290A|MGA_ENST00000566586.1_Missense_Mutation_p.G2081A|MGA_ENST00000545763.1_Missense_Mutation_p.G2081A|MGA_ENST00000389936.4_Missense_Mutation_p.G2251A			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGAAGGGTGGGAGAAGCAGT	0.418																																																	0													99.0	93.0	95.0					15																	42042674		1925	4133	6058	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6869G>C	15.37:g.42042674G>C	ENSP00000457035:p.Gly2290Ala		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.G2290A	ENST00000570161.1	37	c.6869	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	8.793	0.930961	0.18131	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83755	-1.74;-1.76;-1.76	5.11	5.11	0.69529	.	1.120150	0.06779	N	0.784991	T	0.75406	0.3845	N	0.24115	0.695	0.21256	N	0.999746	B;B;B;B	0.28055	0.147;0.143;0.199;0.189	B;B;B;B	0.32289	0.068;0.143;0.097;0.058	T	0.63808	-0.6553	10	0.66056	D	0.02	.	7.2535	0.26162	0.0887:0.1716:0.7396:0.0	.	906;2081;2290;2251	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	A	2290;2251;2081	ENSP00000219905:G2290A;ENSP00000374586:G2251A;ENSP00000442467:G2081A	ENSP00000219905:G2290A	G	+	2	0	MGA	39829966	0.598000	0.26882	0.997000	0.53966	0.542000	0.35054	1.182000	0.32029	2.651000	0.90000	0.591000	0.81541	GGG	MGA	-	NULL	ENSG00000174197		0.418	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1		0.00	30	0	G	NM_001164273.1		42042674	+1			no_errors	ENST00000219905	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.925	C
MFGE8	4240	genome.wustl.edu	37	15	89442676	89442676	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:89442676C>T	ENST00000566497.1	-	8	1175	c.1114G>A	c.(1114-1116)Gta>Ata	p.V372I	MFGE8_ENST00000542878.1_Missense_Mutation_p.V328I|MFGE8_ENST00000268150.8_Missense_Mutation_p.V372I|MFGE8_ENST00000539437.1_Missense_Mutation_p.V364I|MFGE8_ENST00000268151.7_Missense_Mutation_p.V320I			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	372	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGCCAGGCTACAGGCAGGATG	0.617																																																	0													168.0	147.0	154.0					15																	89442676		2200	4299	6499	SO:0001583	missense	0			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.1114G>A	15.37:g.89442676C>T	ENSP00000456281:p.Val372Ile		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.V372I	ENST00000566497.1	37	c.1114	CCDS10347.1	15	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332675	0.24167	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437;ENST00000542878	D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8	5.03	3.11	0.35812	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.642064	0.17056	N	0.188745	D	0.95859	0.8652	L	0.51422	1.61	0.09310	N	1	B;P;P;P;P	0.42203	0.216;0.769;0.773;0.637;0.585	B;B;B;B;B	0.42188	0.122;0.379;0.263;0.255;0.35	D	0.90249	0.4292	10	0.20519	T	0.43	-10.1989	7.9176	0.29827	0.0:0.6053:0.3097:0.085	.	364;328;364;320;372	B3KTQ2;F5GZN3;F5H7N9;Q08431-3;Q08431	.;.;.;.;MFGM_HUMAN	I	372;320;364;328	ENSP00000268150:V372I;ENSP00000268151:V320I;ENSP00000442386:V364I;ENSP00000444332:V328I	ENSP00000268150:V372I	V	-	1	0	MFGE8	87243680	0.178000	0.23122	0.316000	0.25252	0.083000	0.17756	2.297000	0.43593	1.109000	0.41680	0.555000	0.69702	GTA	MFGE8	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000140545		0.617	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	MFGE8	HGNC	protein_coding	OTTHUMT00000432804.1		0.00	77	0	C	NM_005928		89442676	-1			no_errors	ENST00000268150	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.172	T
MICAL3	57553	genome.wustl.edu	37	22	18310414	18310414	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:18310414G>A	ENST00000441493.2	-	22	3541	c.3189C>T	c.(3187-3189)tcC>tcT	p.S1063S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1063	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTTTACCTCCGGAAGCAGAGG	0.652																																																	0													17.0	21.0	20.0					22																	18310414		2000	4139	6139	SO:0001819	synonymous_variant	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3189C>T	22.37:g.18310414G>A			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.S1063	ENST00000441493.2	37	c.3189	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	G	6.535	0.466976	0.12402	.	.	ENSG00000093100	ENST00000252134	.	.	.	4.95	-3.08	0.05347	.	.	.	.	.	T	0.54013	0.1832	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51513	-0.8696	4	.	.	.	.	9.7672	0.40567	0.2761:0.1254:0.5985:0.0	.	.	.	.	L	45	.	.	P	-	2	0	XXbac-B461K10.4	16690414	0.836000	0.29430	0.907000	0.35723	0.443000	0.32047	-0.041000	0.12084	-0.596000	0.05821	-0.390000	0.06520	CCG	MICAL3	-	NULL	ENSG00000243156		0.652	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	-	0.00	244	0	G			18310414	-1	tier1	-	no_errors	ENST00000441493	ensembl	human	known	74_37	silent	28.81	83	34	SNP	0.961	A
MPPED2	744	genome.wustl.edu	37	11	30439101	30439101	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:30439101C>T	ENST00000358117.5	-	4	738	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000448418.2_Missense_Mutation_p.G206S	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	206					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ATGTCAATGCCCTCAGGGATG	0.473																																																	0													124.0	106.0	113.0					11																	30439101		2202	4299	6501	SO:0001583	missense	0			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.616G>A	11.37:g.30439101C>T	ENSP00000350833:p.Gly206Ser		D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_PEstase_dom	p.G206S	ENST00000358117.5	37	c.616	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.533810	0.96460	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	T;T	0.40476	1.03;1.03	5.78	5.78	0.91487	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	L	0.52905	1.665	0.80722	D	1	B;B	0.28400	0.041;0.21	B;B	0.25884	0.061;0.064	T	0.18116	-1.0347	10	0.31617	T	0.26	-11.4349	20.0022	0.97423	0.0:1.0:0.0:0.0	.	206;206	Q15777;E9PB10	MPPD2_HUMAN;.	S	206	ENSP00000388258:G206S;ENSP00000350833:G206S	ENSP00000350833:G206S	G	-	1	0	MPPED2	30395677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.738000	0.93877	0.655000	0.94253	GGC	MPPED2	-	pfam_PEstase_dom	ENSG00000066382		0.473	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	-	0.00	51	0	C	NM_001584		30439101	-1	tier1	-	no_errors	ENST00000358117	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	T
MSN	4478	genome.wustl.edu	37	X	64956699	64956699	+	Silent	SNP	G	G	A	rs113359990		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:64956699G>A	ENST00000360270.5	+	9	1174	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	334					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.E334E(2)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						aaatggcagagaaggagaaag	0.483			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	2	Substitution - coding silent(2)	lung(1)|endometrium(1)											103.0	86.0	92.0					X																	64956699		2189	4265	6454	SO:0001819	synonymous_variant	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1002G>A	X.37:g.64956699G>A				Silent	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.E334	ENST00000360270.5	37	c.1002	CCDS14382.1	X																																																																																			MSN	-	pirsf_ERM	ENSG00000147065		0.483	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1		0.00	22	0	G	NM_002444		64956699	+1			no_errors	ENST00000360270	ensembl	human	known	74_37	silent	9.09	30	3	SNP	1.000	A
MSN	4478	genome.wustl.edu	37	X	64956743	64956743	+	Missense_Mutation	SNP	A	A	G	rs200135811		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:64956743A>G	ENST00000360270.5	+	9	1218	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	349					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.E349G(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						gagctgatggagaggctgaag	0.493			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	1	Substitution - Missense(1)	skin(1)											105.0	84.0	91.0					X																	64956743		2203	4299	6502	SO:0001583	missense	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1046A>G	X.37:g.64956743A>G	ENSP00000353408:p.Glu349Gly			Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.E349G	ENST00000360270.5	37	c.1046	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810728	0.50421	.	.	ENSG00000147065	ENST00000360270	D	0.83837	-1.77	4.56	3.39	0.38822	Ezrin/radixin/moesin, C-terminal (1);	0.283599	0.40385	N	0.001109	D	0.83431	0.5253	M	0.85945	2.785	0.58432	D	0.999995	B	0.27229	0.172	B	0.36186	0.219	T	0.77338	-0.2625	10	0.34782	T	0.22	.	5.9609	0.19299	0.8811:0.0:0.1189:0.0	.	349	P26038	MOES_HUMAN	G	349	ENSP00000353408:E349G	ENSP00000353408:E349G	E	+	2	0	MSN	64873468	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.780000	0.75063	0.705000	0.31890	0.481000	0.45027	GAG	MSN	-	pirsf_ERM,pfam_ERM_C_dom	ENSG00000147065		0.493	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1		0.00	31	0	A	NM_002444		64956743	+1			no_errors	ENST00000360270	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	G
MT-ND2	4536	genome.wustl.edu	37	M	1546	1546	+	5'Flank	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrM:1546A>G	ENST00000361453.3	+	0	0				MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CTACGCATTTATATAGAGGAG	0.463																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1546A>G	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MT-RNR1	-	-	ENSG00000211459		0.463	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR1	HGNC	protein_coding		-	0.00	42	0	A	YP_003024027		1546	+1	tier1	-	no_errors	ENST00000389680	ensembl	human	known	74_37	rna	40.00	3	2	SNP	NULL	G
MT-ND2	4536	genome.wustl.edu	37	M	1553	1553	+	5'Flank	SNP	A	A	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrM:1553A>T	ENST00000361453.3	+	0	0				MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TTTATATAGAGGAGACAAGTC	0.448																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1553A>T	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MT-RNR1	-	-	ENSG00000211459		0.448	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR1	HGNC	protein_coding		-	0.00	44	0	A	YP_003024027		1553	+1	tier1	-	no_errors	ENST00000389680	ensembl	human	known	74_37	rna	40.00	3	2	SNP	NULL	T
MT-ND5	4540	genome.wustl.edu	37	M	12344	12344	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrM:12344T>A	ENST00000361567.2	+	1	8	c.8T>A	c.(7-9)aTg>aAg	p.M3K	MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	0					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						AGTAATAACCATGCACACTAC	0.403																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.8T>A	M.37:g.12344T>A	ENSP00000354813:p.Met3Lys		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.M3K	ENST00000361567.2	37	c.8		MT																																																																																			MT-ND5	-	NULL	ENSG00000198786		0.403	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		-	0.00	35	0	T	YP_003024036		12344	+1	tier1	-	no_errors	ENST00000361567	ensembl	human	known	74_37	missense	33.33	4	2	SNP	NULL	A
MTHFD2L	441024	genome.wustl.edu	37	4	75065639	75065639	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:75065639G>T	ENST00000395759.2	+	4	607	c.580G>T	c.(580-582)Gtt>Ttt	p.V194F	MTHFD2L_ENST00000433372.1_Missense_Mutation_p.V59F|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V136F|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.V136F	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	194					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TGCCAGTGCTGTTTGGGAAAT	0.433																																																	0													86.0	91.0	89.0					4																	75065639		2203	4300	6503	SO:0001583	missense	0			BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.580G>T	4.37:g.75065639G>T	ENSP00000379108:p.Val194Phe		Q6P079|Q8N560	Missense_Mutation	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.V194F	ENST00000395759.2	37	c.580	CCDS47075.1	4	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521303	0.85600	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	5.2	5.2	0.72013	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87196	0.6117	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.987;0.993	D	0.91805	0.5455	10	0.87932	D	0	.	16.2793	0.82664	0.0:0.0:1.0:0.0	.	194;136	Q9H903;Q9H903-3	MTD2L_HUMAN;.	F	59;194;136;136;136	ENSP00000405692:V59F;ENSP00000379108:V194F;ENSP00000330982:V136F;ENSP00000352012:V136F;ENSP00000321984:V136F	ENSP00000321984:V136F	V	+	1	0	MTHFD2L	75284503	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	8.998000	0.93550	2.699000	0.92147	0.655000	0.94253	GTT	MTHFD2L	-	pfam_THF_DH/CycHdrlase_NAD-bd_dom	ENSG00000163738		0.433	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2L	HGNC	protein_coding		-	0.00	87	0	G	NM_001004346		75065639	+1	tier1	-	no_errors	ENST00000395759	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
MUC13	56667	genome.wustl.edu	37	3	124632422	124632423	+	Frame_Shift_Ins	INS	-	-	CTCT			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:124632422_124632423insCTCT	ENST00000311075.3	-	7	1105_1106	c.1067_1068insAGAG	c.(1066-1068)agcfs	p.S356fs		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	357	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CGCAGAAAGGGCTCTGTGGGTT	0.421																																																	0																																										SO:0001589	frameshift_variant	0			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1064_1067dupAGAG	3.37:g.124632423_124632426dupCTCT	ENSP00000312235:p.Ser356fs		Q6UWD9|Q9NXT5	Frame_Shift_Ins	INS	pfam_SEA_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.S356fs	ENST00000311075.3	37	c.1068_1067		3																																																																																			MUC13	-	superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom	ENSG00000173702		0.421	MUC13-001	KNOWN	basic|appris_principal	protein_coding	MUC13	HGNC	protein_coding	OTTHUMT00000355714.1		0.00	63	0	-	NM_033049		124632423	-1	tier1		no_errors	ENST00000311075	ensembl	human	known	74_37	frame_shift_ins	16.67	45	9	INS	0.000:0.000	CTCT
MUC16	94025	genome.wustl.edu	37	19	9049753	9049753	+	Silent	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:9049753A>G	ENST00000397910.4	-	5	32081	c.31878T>C	c.(31876-31878)tcT>tcC	p.S10626S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10628	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCTGTGGAAGATACAGTGT	0.478																																																	0													107.0	99.0	102.0					19																	9049753		1955	4149	6104	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31878T>C	19.37:g.9049753A>G			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S10626	ENST00000397910.4	37	c.31878	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	47	0	A	NM_024690		9049753	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	37.21	27	16	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9075786	9075786	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:9075786T>G	ENST00000397910.4	-	3	11863	c.11660A>C	c.(11659-11661)aAt>aCt	p.N3887T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3888	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGACAGAATTCATCATCTC	0.463																																																	0													108.0	99.0	102.0					19																	9075786		1984	4171	6155	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11660A>C	19.37:g.9075786T>G	ENSP00000381008:p.Asn3887Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.N3887T	ENST00000397910.4	37	c.11660	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	7.248	0.602603	0.13939	.	.	ENSG00000181143	ENST00000397910	T	0.02498	4.27	1.52	-1.95	0.07548	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	B	0.31174	0.311	B	0.26614	0.071	T	0.45293	-0.9271	8	0.87932	D	0	.	2.3337	0.04242	0.0:0.344:0.3055:0.3505	.	3887	B5ME49	.	T	3887	ENSP00000381008:N3887T	ENSP00000381008:N3887T	N	-	2	0	MUC16	8936786	0.000000	0.05858	0.000000	0.03702	0.688000	0.40055	-1.499000	0.02285	-0.523000	0.06409	0.172000	0.16884	AAT	MUC16	-	NULL	ENSG00000181143		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	34	0	T	NM_024690		9075786	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	38.10	13	8	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9084596	9084596	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:9084596G>T	ENST00000397910.4	-	1	7422	c.7219C>A	c.(7219-7221)Ctc>Atc	p.L2407I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2407	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAGAAGAGAGATGGGGAG	0.473																																																	0													103.0	104.0	104.0					19																	9084596		1957	4155	6112	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7219C>A	19.37:g.9084596G>T	ENSP00000381008:p.Leu2407Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L2407I	ENST00000397910.4	37	c.7219	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.041	-0.420164	0.04734	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	0.225	0.225	0.15325	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	.	.	.	P	0.49696	0.927	P	0.56563	0.801	T	0.45862	-0.9232	7	0.87932	D	0	.	.	.	.	.	2407	B5ME49	.	I	2407	ENSP00000381008:L2407I	ENSP00000381008:L2407I	L	-	1	0	MUC16	8945596	0.001000	0.12720	0.100000	0.21137	0.100000	0.18952	-0.054000	0.11826	0.300000	0.22699	0.305000	0.20034	CTC	MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0.00	65	0	G	NM_024690		9084596	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.117	T
MUC4	4585	genome.wustl.edu	37	3	195509608	195509608	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:195509608G>A	ENST00000463781.3	-	2	9302	c.8843C>T	c.(8842-8844)aCc>aTc	p.T2948I	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T2948I	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)		GGAAGTGTCGGTGACAGGAAG	0.592																																																	0													10.0	8.0	9.0					3																	195509608		653	1506	2159	SO:0001583	missense	0			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.8843C>T	3.37:g.195509608G>A	ENSP00000417498:p.Thr2948Ile		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.T2948I	ENST00000463781.3	37	c.8843	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	2.576	-0.298415	0.05532	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.50548	0.93;0.74	.	.	.	.	.	.	.	.	T	0.44726	0.1307	N	0.19112	0.55	0.09310	N	1	D	0.71674	0.998	D	0.71656	0.974	T	0.28996	-1.0026	7	.	.	.	.	4.4363	0.11552	0.334:0.0:0.666:0.0	.	2820	E7ESK3	.	I	2948	ENSP00000417498:T2948I;ENSP00000420243:T2948I	.	T	-	2	0	MUC4	196994387	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.161000	0.10026	-0.000000	0.14550	0.000000	0.15137	ACC	MUC4	-	NULL	ENSG00000145113		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	-	0.00	169	0	G	NM_018406		195509608	-1	tier1	-	no_errors	ENST00000463781	ensembl	human	known	74_37	missense	28.46	191	76	SNP	0.005	A
MYBBP1A	10514	genome.wustl.edu	37	17	4457381	4457382	+	Frame_Shift_Ins	INS	-	-	TGAG			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:4457381_4457382insTGAG	ENST00000254718.4	-	4	691_692	c.385_386insCTCA	c.(385-387)ctgfs	p.L129fs	MYBBP1A_ENST00000381556.2_Frame_Shift_Ins_p.L129fs			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	129	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGCAGGTCTCAGCATTGCCTAG	0.594																																																	0																																										SO:0001589	frameshift_variant	0			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.385_386insCTCA	17.37:g.4457381_4457382insTGAG	ENSP00000254718:p.Leu129fs		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Frame_Shift_Ins	INS	pfam_DNA_pol_V,superfamily_ARM-type_fold	p.L129fs	ENST00000254718.4	37	c.386_385	CCDS11046.1	17																																																																																			MYBBP1A	-	pfam_DNA_pol_V,superfamily_ARM-type_fold	ENSG00000132382		0.594	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBBP1A	HGNC	protein_coding	OTTHUMT00000207488.2		0.00	40	0	-	NM_014520		4457382	-1	tier1		no_errors	ENST00000381556	ensembl	human	known	74_37	frame_shift_ins	8.70	21	2	INS	0.888:0.000	TGAG
MYH6	4624	genome.wustl.edu	37	14	23863430	23863430	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:23863430G>A	ENST00000356287.3	-	20	2561	c.2532C>T	c.(2530-2532)agC>agT	p.S844S	MYH6_ENST00000405093.3_Silent_p.S844S			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	844					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGTCTCTGCGCTCTTCAGCA	0.567																																																	0													115.0	106.0	109.0					14																	23863430		2203	4300	6503	SO:0001819	synonymous_variant	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2532C>T	14.37:g.23863430G>A			A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S844	ENST00000356287.3	37	c.2532	CCDS9600.1	14																																																																																			MYH6	-	NULL	ENSG00000197616		0.567	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0.00	46	0	G			23863430	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	silent	22.45	38	11	SNP	0.904	A
MYH7	4625	genome.wustl.edu	37	14	23890230	23890230	+	Silent	SNP	G	G	A	rs200664031		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:23890230G>A	ENST00000355349.3	-	26	3435	c.3273C>T	c.(3271-3273)aaC>aaT	p.N1091N	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1091					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.N1091N(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAATCCTTGCGTTGAGAGCAT	0.567																																																	1	Substitution - coding silent(1)	endometrium(1)											92.0	85.0	87.0					14																	23890230		2203	4300	6503	SO:0001819	synonymous_variant	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3273C>T	14.37:g.23890230G>A			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N1091	ENST00000355349.3	37	c.3273	CCDS9601.1	14																																																																																			MYH7	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000092054		0.567	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0.00	51	0	G	NM_000257		23890230	-1	tier1	rs200664031	no_errors	ENST00000355349	ensembl	human	known	74_37	silent	55.56	12	15	SNP	0.023	A
MYL3	4634	genome.wustl.edu	37	3	46904790	46904790	+	Missense_Mutation	SNP	G	G	A	rs377026344		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:46904790G>A	ENST00000395869.1	-	1	142	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYL3_ENST00000292327.4_Missense_Mutation_p.R31C			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	31					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TCCTTAGGGCGCTCAGGCTCA	0.602																																					Melanoma(166;130 1949 2249 18977 46142)												0									CYS/ARG	0,4406		0,0,2203	105.0	110.0	108.0		91	3.8	0.1	3		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYL3	NM_000258.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	31/196	46904790	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"""Myosins / Light chain"", ""EF-hand domain containing"""	7584	protein-coding gene	gene with protein product		160790	"""myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"""			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.91C>T	3.37:g.46904790G>A	ENSP00000379210:p.Arg31Cys		B2R534|Q9NRS8	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.R31C	ENST00000395869.1	37	c.91	CCDS2746.1	3	.	.	.	.	.	.	.	.	.	.	G	8.233	0.805000	0.16467	0.0	1.16E-4	ENSG00000160808	ENST00000395869;ENST00000292327;ENST00000431168	D;D	0.84660	-1.88;-1.88	4.68	3.78	0.43462	.	0.633837	0.14361	N	0.324444	T	0.76521	0.3999	L	0.36672	1.1	0.33259	D	0.559466	P	0.44044	0.825	B	0.33890	0.172	T	0.81493	-0.0908	10	0.56958	D	0.05	-1.2058	12.7183	0.57127	0.0:0.167:0.8329:0.0	.	31	P08590	MYL3_HUMAN	C	31	ENSP00000379210:R31C;ENSP00000292327:R31C	ENSP00000292327:R31C	R	-	1	0	MYL3	46879794	0.157000	0.22836	0.100000	0.21137	0.075000	0.17131	0.822000	0.27352	1.275000	0.44379	0.561000	0.74099	CGC	MYL3	-	NULL	ENSG00000160808		0.602	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL3	HGNC	protein_coding	OTTHUMT00000259165.2	-	0.00	65	0	G	NM_000258		46904790	-1	tier1	-	no_errors	ENST00000292327	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.684	A
MYLIP	29116	genome.wustl.edu	37	6	16146915	16146915	+	Missense_Mutation	SNP	G	G	A	rs199758517		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:16146915G>A	ENST00000356840.3	+	7	1469	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	U3_ENST00000515984.1_RNA|MYLIP_ENST00000349606.4_Missense_Mutation_p.R243H	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	424					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TGCAGGTCGCGTGTGGAGCAT	0.527																																																	0													185.0	140.0	155.0					6																	16146915		2203	4300	6503	SO:0001583	missense	0			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1271G>A	6.37:g.16146915G>A	ENSP00000349298:p.Arg424His		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R424H	ENST00000356840.3	37	c.1271	CCDS4536.1	6	.	.	.	.	.	.	.	.	.	.	G	4.178	0.031525	0.08101	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	T;T	0.78707	-1.2;-1.2	5.5	-3.77	0.04346	Zinc finger, RING/FYVE/PHD-type (1);	0.620548	0.18313	N	0.145028	T	0.32615	0.0835	N	0.11724	0.165	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23762	-1.0179	10	0.44086	T	0.13	.	8.1665	0.31230	0.2807:0.243:0.4763:0.0	.	424	Q8WY64	MYLIP_HUMAN	H	424;243	ENSP00000349298:R424H;ENSP00000008686:R243H	ENSP00000008686:R243H	R	+	2	0	MYLIP	16254894	0.004000	0.15560	0.000000	0.03702	0.110000	0.19582	0.749000	0.26320	-1.324000	0.02272	-2.964000	0.00082	CGT	MYLIP	-	NULL	ENSG00000007944		0.527	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLIP	HGNC	protein_coding	OTTHUMT00000043864.1	-	0.00	76	0	G	NM_013262		16146915	+1	tier1	rs199758517	no_errors	ENST00000356840	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	A
MYO15A	51168	genome.wustl.edu	37	17	18082098	18082098	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:18082098C>T	ENST00000205890.5	+	66	10845	c.10507C>T	c.(10507-10509)Cgt>Tgt	p.R3503C	MYO15A_ENST00000418233.3_Missense_Mutation_p.S784L|RP11-258F1.1_ENST00000583062.1_RNA|MYO15A_ENST00000451725.2_3'UTR|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3503	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAACTGTGTCGTGTGGTGGC	0.612																																																	0													126.0	140.0	135.0					17																	18082098		2157	4264	6421	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10507C>T	17.37:g.18082098C>T	ENSP00000205890:p.Arg3503Cys		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.R3503C	ENST00000205890.5	37	c.10507	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513221	0.44660	.	.	ENSG00000091536	ENST00000205890	D	0.89123	-2.47	5.58	5.58	0.84498	FERM domain (1);	.	.	.	.	D	0.94019	0.8084	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94267	0.7507	9	0.72032	D	0.01	.	14.0792	0.64909	0.1507:0.8493:0.0:0.0	.	3503	Q9UKN7	MYO15_HUMAN	C	3503	ENSP00000205890:R3503C	ENSP00000205890:R3503C	R	+	1	0	MYO15A	18022823	1.000000	0.71417	0.917000	0.36280	0.495000	0.33615	5.724000	0.68500	2.637000	0.89404	0.555000	0.69702	CGT	MYO15A	-	pfscan_FERM_domain	ENSG00000091536		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0.00	42	0	C	NM_016239		18082098	+1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	T
MYO18B	84700	genome.wustl.edu	37	22	26351222	26351222	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:26351222G>T	ENST00000407587.2	+	39	6220	c.6051G>T	c.(6049-6051)caG>caT	p.Q2017H	MYO18B_ENST00000536101.1_Missense_Mutation_p.Q2016H|MYO18B_ENST00000335473.7_Missense_Mutation_p.Q2016H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2016	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCGAGTCCCAGCAGCGGGAGA	0.662																																																	0													19.0	24.0	23.0					22																	26351222		1943	4140	6083	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6051G>T	22.37:g.26351222G>T	ENSP00000386096:p.Gln2017His		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q2016H	ENST00000407587.2	37	c.6048		22	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718672	0.48622	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87334	-2.22;-2.22;-2.24	4.86	3.83	0.44106	.	0.552403	0.18541	N	0.138192	D	0.82291	0.5005	N	0.22421	0.69	0.37630	D	0.921647	P;P;P;P;P	0.52692	0.797;0.874;0.874;0.955;0.923	B;B;B;P;P	0.47251	0.424;0.322;0.322;0.542;0.521	D	0.86300	0.1679	10	0.87932	D	0	.	13.1412	0.59436	0.0824:0.0:0.9176:0.0	.	1529;2018;2016;2017;2016	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	H	2016;2016;2017	ENSP00000441229:Q2016H;ENSP00000334563:Q2016H;ENSP00000386096:Q2017H	ENSP00000334563:Q2016H	Q	+	3	2	MYO18B	24681222	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	3.261000	0.51530	2.410000	0.81850	0.591000	0.81541	CAG	MYO18B	-	NULL	ENSG00000133454		0.662	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1		0.00	91	0	G	NM_032608		26351222	+1			no_errors	ENST00000335473	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
MYO3A	53904	genome.wustl.edu	37	10	26455097	26455097	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:26455097G>T	ENST00000265944.5	+	27	3267	c.3101G>T	c.(3100-3102)gGa>gTa	p.G1034V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1034	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|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)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGGCTCTTGGAAAAACAAAA	0.398																																																	0													82.0	88.0	86.0					10																	26455097		2203	4300	6503	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3101G>T	10.37:g.26455097G>T	ENSP00000265944:p.Gly1034Val		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.G1034V	ENST00000265944.5	37	c.3101	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937700	0.92458	.	.	ENSG00000095777	ENST00000265944	D	0.98684	-5.07	6.16	6.16	0.99307	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97479	1.0046	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1034	Q8NEV4	MYO3A_HUMAN	V	1034	ENSP00000265944:G1034V	ENSP00000265944:G1034V	G	+	2	0	MYO3A	26495103	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.208000	0.95075	2.937000	0.99478	0.650000	0.86243	GGA	MYO3A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000095777		0.398	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1		0.00	67	0	G	NM_017433		26455097	+1			no_errors	ENST00000265944	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T
MYOM2	9172	genome.wustl.edu	37	8	2046716	2046716	+	Nonsense_Mutation	SNP	C	C	A	rs141326692		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:2046716C>A	ENST00000262113.4	+	19	2484	c.2343C>A	c.(2341-2343)taC>taA	p.Y781*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.Y206*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	781	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCTCACTCTACGAGTTCAAAA	0.547																																																	0													39.0	37.0	38.0					8																	2046716		2203	4300	6503	SO:0001587	stop_gained	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2343C>A	8.37:g.2046716C>A	ENSP00000262113:p.Tyr781*		Q7Z3Y2	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Y781*	ENST00000262113.4	37	c.2343	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602035	0.87055	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	.	.	.	5.5	-0.925	0.10458	.	0.126644	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7721	0.40595	0.0:0.3569:0.0:0.6431	.	.	.	.	X	781;206	.	ENSP00000262113:Y781X	Y	+	3	2	MYOM2	2034123	0.980000	0.34600	0.741000	0.31004	0.102000	0.19082	0.097000	0.15168	-0.405000	0.07599	-0.367000	0.07326	TAC	MYOM2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000036448		0.547	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	-	0.00	122	0	C	NM_003970		2046716	+1	tier1	-	no_errors	ENST00000262113	ensembl	human	known	74_37	nonsense	50.54	46	47	SNP	0.997	A
NAA11	84779	genome.wustl.edu	37	4	80246474	80246474	+	Silent	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:80246474A>C	ENST00000286794.4	-	1	730	c.558T>G	c.(556-558)tcT>tcG	p.S186S	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	186					N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CTTCAGAATCAGAAAGTGTGC	0.552																																																	0													51.0	52.0	52.0					4																	80246474		1951	4151	6102	SO:0001819	synonymous_variant	0				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.558T>G	4.37:g.80246474A>C			Q66K19|Q6P479	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S186	ENST00000286794.4	37	c.558	CCDS47084.1	4																																																																																			NAA11	-	NULL	ENSG00000156269		0.552	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA11	HGNC	protein_coding	OTTHUMT00000362922.1	-	0.00	75	0	A			80246474	-1	tier1	-	no_errors	ENST00000286794	ensembl	human	known	74_37	silent	31.25	22	10	SNP	0.000	C
NBAS	51594	genome.wustl.edu	37	2	15358907	15358907	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:15358907G>A	ENST00000281513.5	-	48	6447	c.6422C>T	c.(6421-6423)cCc>cTc	p.P2141L	NBAS_ENST00000441750.1_Missense_Mutation_p.P2021L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2141					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTGTCTCTGGGGCCAGGAGGC	0.493																																																	0													72.0	78.0	76.0					2																	15358907		2203	4300	6503	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6422C>T	2.37:g.15358907G>A	ENSP00000281513:p.Pro2141Leu		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.P2141L	ENST00000281513.5	37	c.6422	CCDS1685.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.41|16.41	3.116293|3.116293	0.56505|0.56505	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|T	0.11930|0.20200	2.73;2.92|2.09	5.63|5.63	4.75|4.75	0.60458|0.60458	.|.	0.101195|0.101195	0.64402|0.64402	D|D	0.000002|0.000002	T|T	0.35998|0.35998	0.0951|0.0951	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;P|.	0.80764|.	0.994;0.907|.	T|T	0.05099|0.05099	-1.0906|-1.0906	10|8	0.87932|0.36615	D|T	0|0.2	.|.	14.9907|14.9907	0.71387|0.71387	0.0:0.0:0.8564:0.1436|0.0:0.0:0.8564:0.1436	.|.	2021;2141|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	L|S	2021;2141|1189	ENSP00000413201:P2021L;ENSP00000281513:P2141L|ENSP00000398411:P1189S	ENSP00000281513:P2141L|ENSP00000398411:P1189S	P|P	-|-	2|1	0|0	NBAS|NBAS	15276358|15276358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.356000|0.356000	0.29392|0.29392	5.877000|5.877000	0.69675|0.69675	1.354000|1.354000	0.45846|0.45846	-0.282000|-0.282000	0.10007|0.10007	CCC|CCC	NBAS	-	NULL	ENSG00000151779		0.493	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	-	0.00	78	0	G	NM_015909		15358907	-1	tier1	-	no_errors	ENST00000281513	ensembl	human	known	74_37	missense	21.88	50	14	SNP	1.000	A
NDRG1	10397	genome.wustl.edu	37	8	134251058	134251058	+	3'UTR	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:134251058G>A	ENST00000414097.2	-	0	2115				NDRG1_ENST00000323851.7_3'UTR|NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000537882.1_3'UTR|NDRG1_ENST00000518176.1_3'UTR|NDRG1_ENST00000522476.1_3'UTR|NDRG1_ENST00000354944.5_3'UTR|NDRG1_ENST00000518066.1_3'UTR	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1						cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGGCGAAAAGGGGCCGGGGAG	0.597			T	ERG	prostate																																			Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	0																																										SO:0001624	3_prime_UTR_variant	0			X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.*63C>T	8.37:g.134251058G>A			B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	RNA	SNP	-	NULL	ENST00000414097.2	37	NULL	CCDS34945.1	8																																																																																			NDRG1	-	-	ENSG00000104419		0.597	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDRG1	HGNC	protein_coding	OTTHUMT00000378805.1	-	0.00	24	0	G			134251058	-1	tier1	-	no_errors	ENST00000521414	ensembl	human	known	74_37	rna	20.00	15	4	SNP	0.331	A
NDST3	9348	genome.wustl.edu	37	4	118975271	118975271	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:118975271A>G	ENST00000296499.5	+	2	609	c.206A>G	c.(205-207)aAg>aGg	p.K69R	NDST3_ENST00000433996.2_Missense_Mutation_p.K69R	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	69	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAAGCAATGAAGCTTTTTGAT	0.433																																																	0													110.0	108.0	109.0					4																	118975271		2203	4300	6503	SO:0001583	missense	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.206A>G	4.37:g.118975271A>G	ENSP00000296499:p.Lys69Arg		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.K69R	ENST00000296499.5	37	c.206	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	A	11.75	1.730654	0.30684	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.45276	1.23;0.9	5.53	1.59	0.23543	.	0.208574	0.39341	N	0.001394	T	0.26629	0.0651	L	0.43554	1.36	0.09310	N	0.999992	B;B;B	0.14438	0.001;0.001;0.01	B;B;B	0.13407	0.002;0.007;0.009	T	0.19778	-1.0295	10	0.14656	T	0.56	.	4.0749	0.09899	0.6722:0.1285:0.0693:0.13	.	69;69;69	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	R	69	ENSP00000296499:K69R;ENSP00000396625:K69R	ENSP00000296499:K69R	K	+	2	0	NDST3	119194719	0.964000	0.33143	0.003000	0.11579	0.980000	0.70556	1.905000	0.39878	0.038000	0.15604	0.528000	0.53228	AAG	NDST3	-	pfam_Heparan_SO4_deacetylase	ENSG00000164100		0.433	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	-	0.00	30	0	A	NM_004784		118975271	+1	tier1	-	no_errors	ENST00000296499	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.433	G
NEB	4703	genome.wustl.edu	37	2	152362681	152362681	+	Splice_Site	SNP	G	G	A	rs202191938	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:152362681G>A	ENST00000172853.10	-	136	18692	c.18545C>T	c.(18544-18546)tCg>tTg	p.S6182L	NEB_ENST00000397336.2_5'Flank|NEB_ENST00000427231.2_Splice_Site_p.S7883L|NEB_ENST00000509223.2_Splice_Site_p.S13L|NEB_ENST00000409198.1_Splice_Site_p.S6182L|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000604864.1_Splice_Site_p.S7883L|NEB_ENST00000603639.1_Splice_Site_p.S7883L|NEB_ENST00000397345.3_Splice_Site_p.S7883L			P20929	NEBU_HUMAN	nebulin	6182					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTCTTTACCGAGCTAATGTG	0.428													G|||	3	0.000599042	0.0	0.0029	5008	,	,		21529	0.0		0.001	False		,,,				2504	0.0																0													325.0	311.0	315.0					2																	152362681		1940	4152	6092	SO:0001630	splice_region_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18546+1C>T	2.37:g.152362681G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.S7883L	ENST00000172853.10	37	c.23648		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.53|17.53	3.413110|3.413110	0.62511|0.62511	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000509223;ENST00000424585	.|T;T;T;T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86;0.86;4.17;0.86	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	.|0.453854	.|0.23918	.|N	.|0.043275	T|T	0.66973|0.66973	0.2844|0.2844	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|P;B;P;P;D	.|0.76494	.|0.915;0.031;0.471;0.718;0.999	.|P;B;B;B;D	.|0.65684	.|0.468;0.003;0.228;0.294;0.937	T|T	0.64202|0.64202	-0.6463|-0.6463	5|10	.|0.56958	.|D	.|0.05	.|.	20.7342|20.7342	0.99715|0.99715	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|13;13;6182;7883;2613	.|B7Z6B9;B7Z6P9;P20929;F8WCP0;Q14215	.|.;.;NEBU_HUMAN;.;.	W|L	79;434|6182;7883;7883;2231;2613;6182;13;110	.|ENSP00000386259:S6182L;ENSP00000380505:S7883L;ENSP00000416578:S7883L;ENSP00000410961:S2613L;ENSP00000172853:S6182L;ENSP00000427083:S13L;ENSP00000404876:S110L	.|ENSP00000172853:S6182L	R|S	-|-	1|2	2|0	NEB|NEB	152070927|152070927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.351000|0.351000	0.29236|0.29236	7.531000|7.531000	0.81973|0.81973	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	CGG|TCG	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif	ENSG00000183091		0.428	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	90	0	G	NM_004543	Missense_Mutation	152362681	-1	tier1	rs202191938	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	24.32	56	18	SNP	1.000	A
NEFH	4744	genome.wustl.edu	37	22	29884949	29884949	+	Missense_Mutation	SNP	C	C	A	rs141203874		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:29884949C>A	ENST00000310624.6	+	4	1353	c.1320C>A	c.(1318-1320)agC>agA	p.S440R		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	440	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S440S(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGTGAAAAGCGAAGAGAAGA	0.468																																																	1	Substitution - coding silent(1)	endometrium(1)											81.0	80.0	80.0					22																	29884949		2203	4300	6503	SO:0001583	missense	0				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1320C>A	22.37:g.29884949C>A	ENSP00000311997:p.Ser440Arg		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_IF,pfam_DUF1388	p.S440R	ENST00000310624.6	37	c.1320	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455979	0.43634	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83250	-1.7	6.16	-4.27	0.03744	.	0.000000	0.64402	D	0.000009	D	0.82967	0.5152	M	0.61703	1.905	0.41384	D	0.987571	D	0.65815	0.995	P	0.53593	0.73	T	0.82248	-0.0551	10	0.54805	T	0.06	.	12.962	0.58464	0.091:0.5878:0.0:0.3212	.	440	P12036	NFH_HUMAN	R	440	ENSP00000311997:S440R	ENSP00000311997:S440R	S	+	3	2	NEFH	28214949	0.000000	0.05858	0.659000	0.29680	0.962000	0.63368	-2.410000	0.01040	-0.963000	0.03600	-0.157000	0.13467	AGC	NEFH	-	NULL	ENSG00000100285		0.468	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	-	0.00	49	0	C	NM_021076		29884949	+1	tier1	-	no_errors	ENST00000310624	ensembl	human	known	74_37	missense	41.18	30	21	SNP	0.603	A
NELL1	4745	genome.wustl.edu	37	11	21592442	21592442	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:21592442A>G	ENST00000357134.5	+	18	2265	c.2113A>G	c.(2113-2115)Agt>Ggt	p.S705G	NELL1_ENST00000298925.5_Missense_Mutation_p.S733G|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.S658G|NELL1_ENST00000325319.5_Missense_Mutation_p.S648G	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	705	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GCTGTATCGAAGTGGAGACAA	0.443																																																	0													197.0	184.0	189.0					11																	21592442		2203	4300	6503	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2113A>G	11.37:g.21592442A>G	ENSP00000349654:p.Ser705Gly		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.S705G	ENST00000357134.5	37	c.2113	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167880	0.78339	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.16	6.16	0.99307	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.84683	2.71	0.54753	D	0.999986	D;D;D;D;D	0.69078	0.99;0.977;0.996;0.997;0.977	P;P;D;D;P	0.68765	0.825;0.891;0.936;0.96;0.891	T	0.79361	-0.1835	10	0.29301	T	0.29	-26.5406	16.8061	0.85666	1.0:0.0:0.0:0.0	.	648;733;250;658;705	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	G	733;705;648;658	ENSP00000298925:S733G;ENSP00000349654:S705G;ENSP00000317837:S648G;ENSP00000437170:S658G	ENSP00000298925:S733G	S	+	1	0	NELL1	21549018	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.935000	0.92923	2.367000	0.80283	0.528000	0.53228	AGT	NELL1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000165973		0.443	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	-	0.00	96	0	A	NM_006157		21592442	+1	tier1	-	no_errors	ENST00000357134	ensembl	human	known	74_37	missense	22.73	32	10	SNP	1.000	G
NETO1	81832	genome.wustl.edu	37	18	70502512	70502512	+	Intron	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr18:70502512A>C	ENST00000327305.6	-	4	1127				NETO1_ENST00000299430.2_Intron|NETO1_ENST00000397929.1_3'UTR|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000583169.1_Intron	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1						memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		aggagagatcacgaaacactc	0.438																																																	0													128.0	131.0	130.0					18																	70502512		2004	4172	6176	SO:0001627	intron_variant	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.469+23548T>G	18.37:g.70502512A>C			Q86W85|Q8ND78|Q8TDF4	RNA	SNP	-	NULL	ENST00000327305.6	37	NULL	CCDS12000.1	18																																																																																			NETO1	-	-	ENSG00000166342		0.438	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	-	0.00	57	0	A	NM_138999		70502512	-1	tier1	-	no_errors	ENST00000580049	ensembl	human	known	74_37	rna	36.36	14	8	SNP	0.001	C
NLGN4Y	22829	genome.wustl.edu	37	Y	16936229	16936229	+	3'UTR	SNP	T	T	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrY:16936229T>A	ENST00000476359.1	+	0	1332							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						TGTCAGCCTGTTGACCCTGTC	0.552																																																	0													39.0	43.0	42.0					Y																	16936229		605	1956	2561	SO:0001624	3_prime_UTR_variant	0				CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*1329T>A	Y.37:g.16936229T>A			F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	pfam_CarbesteraseB,prints_Neuroligin	p.L320M	ENST00000476359.1	37	c.958		Y																																																																																			NLGN4Y	-	pfam_CarbesteraseB	ENSG00000165246		0.552	NLGN4Y-004	KNOWN	basic	processed_transcript	NLGN4Y	HGNC	protein_coding	OTTHUMT00000089064.2	-	0.00	84	0	T	NM_014893		16936229	+1	tier1	-	no_errors	ENST00000382868	ensembl	human	known	74_37	missense	55.77	23	29	SNP	1.000	A
NME7	29922	genome.wustl.edu	37	1	169199982	169199982	+	Silent	SNP	G	G	T	rs138530600		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:169199982G>T	ENST00000367811.3	-	10	1220	c.964C>A	c.(964-966)Cga>Aga	p.R322R	NME7_ENST00000472647.1_Silent_p.R286R	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	322					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					CAAAATTCTCGAAATGTCTTT	0.313																																																	0													81.0	75.0	77.0					1																	169199982		2203	4299	6502	SO:0001819	synonymous_variant	0			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.964C>A	1.37:g.169199982G>T			A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Silent	SNP	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase	p.R322	ENST00000367811.3	37	c.964	CCDS1277.1	1																																																																																			NME7	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK7	ENSG00000143156		0.313	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME7	HGNC	protein_coding	OTTHUMT00000083688.1		0.00	38	0	G	NM_013330		169199982	-1			no_errors	ENST00000367811	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.999	T
NME8	51314	genome.wustl.edu	37	7	37924817	37924817	+	Silent	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:37924817A>C	ENST00000199447.4	+	14	1582	c.1210A>C	c.(1210-1212)Aga>Cga	p.R404R	NME8_ENST00000440017.1_Silent_p.R404R|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	404	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										ACTGGGACCAAGAACTGTTGA	0.383																																																	0													90.0	81.0	84.0					7																	37924817		2203	4300	6503	SO:0001819	synonymous_variant	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1210A>C	7.37:g.37924817A>C			Q9NZH1	Silent	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.R404	ENST00000199447.4	37	c.1210	CCDS5452.1	7																																																																																			NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase	ENSG00000086288		0.383	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	-	0.00	81	0	A	NM_016616		37924817	+1	tier1	-	no_errors	ENST00000199447	ensembl	human	known	74_37	silent	22.06	53	15	SNP	0.898	C
NOL4	8715	genome.wustl.edu	37	18	31599532	31599532	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr18:31599532T>C	ENST00000261592.5	-	6	1103	c.806A>G	c.(805-807)gAg>gGg	p.E269G	NOL4_ENST00000535384.1_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.E269G|NOL4_ENST00000269185.4_Missense_Mutation_p.E155G|NOL4_ENST00000535475.1_Missense_Mutation_p.E114G|NOL4_ENST00000538587.1_Missense_Mutation_p.E195G	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	269						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CCCCAGAGTCTCATTGCCATT	0.433																																																	0													104.0	97.0	99.0					18																	31599532		2203	4300	6503	SO:0001583	missense	0			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.806A>G	18.37:g.31599532T>C	ENSP00000261592:p.Glu269Gly		B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	NULL	p.E269G	ENST00000261592.5	37	c.806	CCDS11907.2	18	.	.	.	.	.	.	.	.	.	.	T	13.15	2.152087	0.38021	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535475;ENST00000538587	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.61	5.61	0.85477	.	0.092688	0.47455	D	0.000221	D	0.87565	0.6209	L	0.40543	1.245	0.48571	D	0.999677	B;D;P;P;D;D	0.67145	0.041;0.996;0.729;0.787;0.989;0.996	B;D;B;B;D;P	0.75484	0.022;0.986;0.153;0.367;0.969;0.895	D	0.83465	0.0056	10	0.08599	T	0.76	-18.7973	15.8198	0.78631	0.0:0.0:0.0:1.0	.	155;18;195;269;269;114	B4DLW2;F8W825;B4DSQ0;O94818;O94818-2;B3KRF4	.;.;.;NOL4_HUMAN;.;.	G	269;155;18;114;195	ENSP00000261592:E269G;ENSP00000269185:E155G;ENSP00000438190:E114G;ENSP00000443472:E195G	ENSP00000261592:E269G	E	-	2	0	NOL4	29853530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.825000	0.69286	2.141000	0.66446	0.519000	0.50382	GAG	NOL4	-	NULL	ENSG00000101746		0.433	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1	-	0.00	61	0	T	NM_003787		31599532	-1	tier1	-	no_errors	ENST00000261592	ensembl	human	known	74_37	missense	38.89	32	21	SNP	1.000	C
NOXO1	124056	genome.wustl.edu	37	16	2031151	2031151	+	Silent	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:2031151C>A	ENST00000397280.4	-	1	33	c.30G>T	c.(28-30)gtG>gtT	p.V10V	NOXO1_ENST00000354249.4_Silent_p.V10V|NOXO1_ENST00000566005.1_Silent_p.V10V|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000356120.4_Silent_p.V10V|TBL3_ENST00000568546.1_3'UTR			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	10	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	CTGCCCCTTGCACTGAAACTG	0.622																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)												0													65.0	70.0	69.0					16																	2031151		2198	4300	6498	SO:0001819	synonymous_variant	0			AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.30G>T	16.37:g.2031151C>A			Q86YM1|Q8NFA3|Q96B73	Silent	SNP	pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.V10	ENST00000397280.4	37	c.30	CCDS42101.1	16																																																																																			NOXO1	-	superfamily_Phox,pfscan_Phox	ENSG00000196408		0.622	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOXO1	HGNC	protein_coding	OTTHUMT00000250612.1	-	0.00	115	0	C			2031151	-1	tier1	-	no_errors	ENST00000397280	ensembl	human	known	74_37	silent	19.32	71	17	SNP	0.003	A
NPEPL1	79716	genome.wustl.edu	37	20	57289051	57289051	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:57289051A>G	ENST00000356091.6	+	10	1492	c.1204A>G	c.(1204-1206)Agg>Ggg	p.R402G	NPEPL1_ENST00000525967.1_Missense_Mutation_p.R374G|NPEPL1_ENST00000525817.1_Missense_Mutation_p.R354G|STX16-NPEPL1_ENST00000530122.1_3'UTR|RP11-261P9.4_ENST00000530479.1_RNA	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	402						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GAAGGCGGGCAGGAAGTGTGG	0.657																																																	0													21.0	30.0	27.0					20																	57289051		1921	3871	5792	SO:0001583	missense	0			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.1204A>G	20.37:g.57289051A>G	ENSP00000348395:p.Arg402Gly		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	p.R402G	ENST00000356091.6	37	c.1204	CCDS46621.1	20	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871553	0.72065	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.42900	0.96;0.96;0.96	5.67	-3.7	0.04437	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.109197	0.56097	D	0.000033	T	0.53190	0.1781	L	0.57130	1.785	0.46609	D	0.999125	P;P;B	0.37955	0.612;0.558;0.29	P;P;P	0.51945	0.685;0.557;0.491	T	0.59461	-0.7450	10	0.56958	D	0.05	-19.025	19.923	0.97094	0.1955:0.8045:0.0:0.0	.	402;354;374	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	G	374;354;402	ENSP00000434810:R374G;ENSP00000437112:R354G;ENSP00000348395:R402G	ENSP00000348395:R402G	R	+	1	2	NPEPL1	56722458	0.940000	0.31905	0.046000	0.18839	0.845000	0.48019	0.613000	0.24299	-0.752000	0.04728	0.459000	0.35465	AGG	NPEPL1	-	pfam_Peptidase_M17_C	ENSG00000215440		0.657	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	-	0.00	103	0	A	NM_024663		57289051	+1	tier1	-	no_errors	ENST00000356091	ensembl	human	known	74_37	missense	49.53	54	53	SNP	0.768	G
NRG1	3084	genome.wustl.edu	37	8	32617883	32617883	+	Silent	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:32617883A>G	ENST00000405005.3	+	11	1227	c.1227A>G	c.(1225-1227)agA>agG	p.R409R	NRG1_ENST00000356819.4_Silent_p.R414R|NRG1_ENST00000338921.4_Silent_p.R417R|NRG1_ENST00000519301.1_Silent_p.R359R|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000539990.1_Silent_p.R252R|NRG1_ENST00000287845.5_Silent_p.R380R|NRG1_ENST00000521670.1_Silent_p.R409R|NRG1_ENST00000287842.3_Silent_p.R406R|NRG1_ENST00000523079.1_Silent_p.R406R			Q02297	NRG1_HUMAN	neuregulin 1	409					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGCATGCCAGAGAAACCCCTG	0.522																																																	0													128.0	133.0	131.0					8																	32617883		2203	4300	6503	SO:0001819	synonymous_variant	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1227A>G	8.37:g.32617883A>G			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.R417	ENST00000405005.3	37	c.1251	CCDS6085.1	8																																																																																			NRG1	-	pfam_Neuregulin_1_C	ENSG00000157168		0.522	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0.00	34	0	A			32617883	+1	tier1	-	no_errors	ENST00000338921	ensembl	human	known	74_37	silent	46.51	23	20	SNP	1.000	G
NRG2	9542	genome.wustl.edu	37	5	139422014	139422015	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:139422014_139422015insG	ENST00000361474.1	-	1	864_865	c.640_641insC	c.(640-642)ctcfs	p.L214fs	NRG2_ENST00000289409.4_Frame_Shift_Ins_p.L214fs|NRG2_ENST00000545385.1_Frame_Shift_Ins_p.L214fs|NRG2_ENST00000394770.1_Frame_Shift_Ins_p.L214fs|NRG2_ENST00000358522.3_Frame_Shift_Ins_p.L214fs|NRG2_ENST00000541337.1_Frame_Shift_Ins_p.L214fs|NRG2_ENST00000289422.7_Frame_Shift_Ins_p.L214fs	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	214					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGTATCGAGGGGGGCAAAG	0.584																																																	0																																										SO:0001589	frameshift_variant	0				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.641dupC	5.37:g.139422020_139422020dupG	ENSP00000354910:p.Leu214fs			Frame_Shift_Ins	INS	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom	p.L214fs	ENST00000361474.1	37	c.641_640	CCDS4217.1	5																																																																																			NRG2	-	NULL	ENSG00000158458		0.584	NRG2-001	KNOWN	basic|CCDS	protein_coding	NRG2	HGNC	protein_coding	OTTHUMT00000251340.1		0.00	110	0	-	NM_013982		139422015	-1	tier1		no_errors	ENST00000545385	ensembl	human	known	74_37	frame_shift_ins	43.08	37	28	INS	1.000:1.000	G
NRP2	8828	genome.wustl.edu	37	2	206641091	206641091	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:206641091G>A	ENST00000357118.4	+	16	2578	c.2547G>A	c.(2545-2547)gcG>gcA	p.A849A	NRP2_ENST00000357785.5_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000272849.3_Silent_p.A854A|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000540178.1_Intron	NM_201267.1	NP_957719	Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCTCCGTCGCGCTGGCCCTGG	0.647											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													76.0	65.0	69.0					2																	206641091		2203	4300	6503	SO:0001819	synonymous_variant	0			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357118.4:c.2547G>A	2.37:g.206641091G>A		2161	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_Neuropilin1_C,pfam_MAM_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.A854	ENST00000357118.4	37	c.2562	CCDS46498.1	2																																																																																			NRP2	-	pirsf_Neuropilin,pfam_Neuropilin1_C	ENSG00000118257		0.647	NRP2-003	KNOWN	basic|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336465.1		0.00	47	0	G			206641091	+1			no_errors	ENST00000272849	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.891	A
NRXN2	9379	genome.wustl.edu	37	11	64415728	64415728	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:64415728G>A	ENST00000377551.1	-	16	3577	c.3366C>T	c.(3364-3366)tgC>tgT	p.C1122C	NRXN2_ENST00000265459.6_Silent_p.C1122C|NRXN2_ENST00000409571.1_Silent_p.C1115C|NRXN2_ENST00000377559.3_Silent_p.C1082C|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	1122	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AAGTCATGGTGCAGTCGCAGG	0.622																																																	0													106.0	93.0	97.0					11																	64415728		2201	4297	6498	SO:0001819	synonymous_variant	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3366C>T	11.37:g.64415728G>A			A7E2C1|Q9Y2D6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.C1122	ENST00000377551.1	37	c.3366	CCDS8077.1	11																																																																																			NRXN2	-	superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000110076		0.622	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	-	0.00	54	0	G	NM_015080		64415728	-1	tier1	-	no_errors	ENST00000265459	ensembl	human	known	74_37	silent	25.00	27	9	SNP	1.000	A
NRXN2	9379	genome.wustl.edu	37	11	64434791	64434791	+	Silent	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:64434791G>T	ENST00000377551.1	-	8	1940	c.1729C>A	c.(1729-1731)Cgg>Agg	p.R577R	NRXN2_ENST00000265459.6_Silent_p.R577R|NRXN2_ENST00000409571.1_Silent_p.R570R|NRXN2_ENST00000377559.3_Silent_p.R546R			Q9P2S2	NRX2A_HUMAN	neurexin 2	577	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTGGATGCCCGCAGCTTGATG	0.602																																																	0													94.0	85.0	88.0					11																	64434791		2201	4297	6498	SO:0001819	synonymous_variant	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1729C>A	11.37:g.64434791G>T			A7E2C1|Q9Y2D6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R577	ENST00000377551.1	37	c.1729	CCDS8077.1	11																																																																																			NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.602	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3		0.00	85	0	G	NM_015080		64434791	-1			no_errors	ENST00000265459	ensembl	human	known	74_37	silent	5.26	35	2	SNP	1.000	T
NTM	50863	genome.wustl.edu	37	11	132205623	132205624	+	3'UTR	INS	-	-	T	rs111313978		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:132205623_132205624insT	ENST00000374786.1	+	0	2097_2098				NTM_ENST00000374791.3_3'UTR|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TACCGTTAAACTTTTTTTTTTT	0.292																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.*584->T	11.37:g.132205634_132205634dupT			A0MTT2|Q6UXJ3|Q86VJ9	RNA	INS	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			NTM	-	-	ENSG00000182667		0.292	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1		0.00	35	0	-	NM_016522		132205624	+1	tier1		no_errors	ENST00000474900	ensembl	human	known	74_37	rna	25.00	15	5	INS	0.000:0.000	T
NTRK3	4916	genome.wustl.edu	37	15	88474441	88474441	+	Intron	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:88474441T>C	ENST00000360948.2	-	16	2051				NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000542733.2_Intron	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTAACCCTGCTGGTGGCTCTT	0.483			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0													39.0	36.0	37.0					15																	88474441		876	1991	2867	SO:0001627	intron_variant	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1890-1776A>G	15.37:g.88474441T>C			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	RNA	SNP	-	NULL	ENST00000360948.2	37	NULL	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	T	9.179	1.023021	0.19433	.	.	ENSG00000140538	ENST00000343782	.	.	.	2.87	-0.859	0.10685	.	.	.	.	.	T	0.32704	0.0838	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33879	-0.9851	5	0.54805	T	0.06	.	3.0335	0.06114	0.0:0.266:0.2298:0.5042	.	.	.	.	R	135	.	ENSP00000342792:Q135R	Q	-	2	0	NTRK3	86275445	0.000000	0.05858	0.003000	0.11579	0.306000	0.27790	-0.527000	0.06200	-0.199000	0.10317	0.533000	0.62120	CAG	NTRK3	-	-	ENSG00000140538		0.483	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		-	0.00	104	0	T			88474441	-1	tier1	-	no_errors	ENST00000559680	ensembl	human	putative	74_37	rna	21.74	54	15	SNP	0.004	C
NUMA1	4926	genome.wustl.edu	37	11	71725098	71725098	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:71725098C>T	ENST00000393695.3	-	15	3782	c.3451G>A	c.(3451-3453)Gag>Aag	p.E1151K	NUMA1_ENST00000358965.6_Missense_Mutation_p.E1151K|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CGCTCAGCCTCGAGGCTGCGT	0.647			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													50.0	51.0	51.0					11																	71725098		2200	4293	6493	SO:0001583	missense	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3451G>A	11.37:g.71725098C>T	ENSP00000377298:p.Glu1151Lys			Missense_Mutation	SNP	superfamily_Prefoldin	p.E1151K	ENST00000393695.3	37	c.3451	CCDS31633.1	11	.	.	.	.	.	.	.	.	.	.	C	2.117	-0.402468	0.04865	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.14266	2.52;2.53	4.55	1.63	0.23807	.	0.258630	0.27613	N	0.018594	T	0.08403	0.0209	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.21452	0.025;0.003;0.056;0.007	B;B;B;B	0.15052	0.006;0.004;0.012;0.006	T	0.35450	-0.9788	9	.	.	.	.	9.3922	0.38381	0.0:0.756:0.0:0.244	.	1157;635;1151;1151	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	K	1151;1151;714;120	ENSP00000351851:E1151K;ENSP00000377298:E1151K	.	E	-	1	0	NUMA1	71402746	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	0.150000	0.16263	0.172000	0.19760	-0.812000	0.03155	GAG	NUMA1	-	NULL	ENSG00000137497		0.647	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1		0.00	67	0	C			71725098	-1			no_errors	ENST00000393695	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.041	T
NUP210	23225	genome.wustl.edu	37	3	13429848	13429848	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:13429848G>A	ENST00000254508.5	-	5	721	c.639C>T	c.(637-639)acC>acT	p.T213T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	213					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGAGCTCCCGGTCTTCATCC	0.582																																																	0													90.0	85.0	87.0					3																	13429848		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.639C>T	3.37:g.13429848G>A			A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.T213	ENST00000254508.5	37	c.639	CCDS33704.1	3																																																																																			NUP210	-	NULL	ENSG00000132182		0.582	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0.00	38	0	G	NM_024923		13429848	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	silent	38.46	16	10	SNP	0.000	A
OR10J1	26476	genome.wustl.edu	37	1	159409982	159409982	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:159409982T>G	ENST00000423932.3	+	1	471	c.434T>G	c.(433-435)gTt>gGt	p.V145G	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	145					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGATACATGGTTATTATGAAC	0.473																																																	0													119.0	113.0	115.0					1																	159409982		2203	4300	6503	SO:0001583	missense	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.434T>G	1.37:g.159409982T>G	ENSP00000399078:p.Val145Gly		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V145G	ENST00000423932.3	37	c.434	CCDS1185.1	1	.	.	.	.	.	.	.	.	.	.	T	7.084	0.570773	0.13560	.	.	ENSG00000196184	ENST00000423932	T	0.01397	4.94	4.58	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.683858	0.11949	N	0.513849	T	0.01489	0.0048	M	0.81942	2.565	0.09310	N	0.999999	B	0.34214	0.442	B	0.42462	0.388	T	0.44967	-0.9293	10	0.87932	D	0	.	6.2512	0.20848	0.0:0.1953:0.0:0.8047	.	145	P30954	O10J1_HUMAN	G	145	ENSP00000399078:V145G	ENSP00000399078:V145G	V	+	2	0	OR10J1	157676606	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.034000	0.12225	0.869000	0.35703	-0.274000	0.10170	GTT	OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000196184		0.473	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	-	0.00	80	0	T	NM_012351		159409982	+1	tier1	-	no_errors	ENST00000423932	ensembl	human	known	74_37	missense	22.89	64	19	SNP	0.000	G
OR11H12	440153	genome.wustl.edu	37	14	19378218	19378218	+	Nonsense_Mutation	SNP	A	A	T	rs201735699	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:19378218A>T	ENST00000550708.1	+	1	697	c.625A>T	c.(625-627)Aga>Tga	p.R209*		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTGCCCCAAGAATCCAACT	0.428																																																	0													1.0	1.0	1.0					14																	19378218		512	1129	1641	SO:0001587	stop_gained	0				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.625A>T	14.37:g.19378218A>T	ENSP00000449002:p.Arg209*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R209*	ENST00000550708.1	37	c.625	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	a	14.06	2.421873	0.43020	.	.	ENSG00000257115	ENST00000550708	.	.	.	0.585	0.585	0.17428	.	1.638080	0.03996	N	0.295714	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	.	.	.	.	.	.	.	X	209	.	ENSP00000449002:R209X	R	+	1	2	CR383656.1	18448218	0.000000	0.05858	0.457000	0.27056	0.201000	0.24016	-3.969000	0.00323	0.518000	0.28383	0.055000	0.15244	AGA	OR11H12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000257115		0.428	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	-	0.00	42	0	A	NM_001013354		19378218	+1	tier1	-	no_errors	ENST00000550708	ensembl	human	known	74_37	nonsense	25.00	18	6	SNP	0.065	T
OR2B3	442184	genome.wustl.edu	37	6	29054257	29054257	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:29054257A>C	ENST00000377173.2	-	1	833	c.769T>G	c.(769-771)Tat>Gat	p.Y257D		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGATACATATAAATGGCTGTT	0.438																																																	0													95.0	78.0	83.0					6																	29054257		2203	4300	6503	SO:0001583	missense	0				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.769T>G	6.37:g.29054257A>C	ENSP00000366378:p.Tyr257Asp		B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y257D	ENST00000377173.2	37	c.769	CCDS34358.1	6	.	.	.	.	.	.	.	.	.	.	A	14.68	2.607921	0.46527	.	.	ENSG00000204703	ENST00000377173	T	0.00123	8.7	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36854	U	0.002380	T	0.00144	0.0004	M	0.83223	2.63	0.09310	N	0.999993	P	0.45634	0.863	P	0.52514	0.701	T	0.02774	-1.1112	10	0.66056	D	0.02	.	8.0721	0.30695	0.819:0.0:0.0:0.181	.	257	O76000	OR2B3_HUMAN	D	257	ENSP00000366378:Y257D	ENSP00000366378:Y257D	Y	-	1	0	OR2B3	29162236	0.002000	0.14202	0.846000	0.33378	0.894000	0.52154	1.698000	0.37794	1.381000	0.46364	0.467000	0.42956	TAT	OR2B3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204703		0.438	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B3	HGNC	protein_coding	OTTHUMT00000076469.2	-	0.00	30	0	A			29054257	-1	tier1	-	no_errors	ENST00000377173	ensembl	human	known	74_37	missense	53.33	14	16	SNP	0.397	C
OR2T12	127064	genome.wustl.edu	37	1	248458213	248458213	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:248458213A>C	ENST00000317996.1	-	1	667	c.668T>G	c.(667-669)gTt>gGt	p.V223G		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V223A(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CATGAGCAGAACAGCAGCGAG	0.517																																																	1	Substitution - Missense(1)	endometrium(1)											133.0	117.0	122.0					1																	248458213		2203	4300	6503	SO:0001583	missense	0			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.668T>G	1.37:g.248458213A>C	ENSP00000324583:p.Val223Gly			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V223G	ENST00000317996.1	37	c.668	CCDS31110.1	1	.	.	.	.	.	.	.	.	.	.	a	11.81	1.748900	0.30955	.	.	ENSG00000177201	ENST00000317996	T	0.00327	8.09	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32068	U	0.006621	T	0.01222	0.0040	H	0.97829	4.085	0.22240	N	0.999265	D	0.76494	0.999	D	0.79108	0.992	T	0.25433	-1.0132	10	0.87932	D	0	.	8.3975	0.32566	1.0:0.0:0.0:0.0	.	223	Q8NG77	O2T12_HUMAN	G	223	ENSP00000324583:V223G	ENSP00000324583:V223G	V	-	2	0	OR2T12	246524836	0.000000	0.05858	0.023000	0.16930	0.143000	0.21401	0.392000	0.20801	0.540000	0.28808	0.147000	0.16070	GTT	OR2T12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177201		0.517	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T12	HGNC	protein_coding	OTTHUMT00000097353.1	-	0.00	133	0	A	NM_001004692		248458213	-1	tier1	-	no_errors	ENST00000317996	ensembl	human	known	74_37	missense	29.09	78	32	SNP	0.064	C
OR4C3	256144	genome.wustl.edu	37	11	48346846	48346846	+	Silent	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:48346846T>C	ENST00000319856.4	+	1	375	c.354T>C	c.(352-354)tcT>tcC	p.S118S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAACCATCTCTTATGAGTGCT	0.438																																																	0													256.0	243.0	247.0					11																	48346846		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.354T>C	11.37:g.48346846T>C			B2RNF2|Q6IFB3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S118	ENST00000319856.4	37	c.354	CCDS31489.1	11																																																																																			OR4C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000176547		0.438	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	-	0.00	111	0	T	NM_001004702		48346846	+1	tier1	-	no_errors	ENST00000319856	ensembl	human	known	74_37	silent	20.31	51	13	SNP	0.020	C
OR4C15	81309	genome.wustl.edu	37	11	55322171	55322171	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55322171T>G	ENST00000314644.2	+	1	389	c.389T>G	c.(388-390)aTc>aGc	p.I130S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCATCTGTCATCACCCCAAAG	0.473										HNSCC(20;0.049)																																							0													186.0	155.0	166.0					11																	55322171		2201	4296	6497	SO:0001583	missense	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.389T>G	11.37:g.55322171T>G	ENSP00000324958:p.Ile130Ser		Q6IFE2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I130S	ENST00000314644.2	37	c.389	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767590	0.31320	.	.	ENSG00000181939	ENST00000314644	T	0.01152	5.26	5.12	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02119	0.0066	L	0.48877	1.53	0.09310	N	1	P	0.45044	0.849	P	0.47346	0.544	T	0.50048	-0.8873	9	0.39692	T	0.17	.	8.9884	0.36008	0.0:0.0879:0.0:0.9121	.	76	Q8NGM1	OR4CF_HUMAN	S	130	ENSP00000324958:I130S	ENSP00000324958:I130S	I	+	2	0	OR4C15	55078747	0.000000	0.05858	0.006000	0.13384	0.692000	0.40212	-0.402000	0.07223	0.974000	0.38366	0.317000	0.21355	ATC	OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181939		0.473	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	-	0.00	65	0	T	NM_001001920		55322171	+1	tier1	-	no_errors	ENST00000314644	ensembl	human	known	74_37	missense	20.63	50	13	SNP	0.002	G
OR4P4	81300	genome.wustl.edu	37	11	55406320	55406320	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55406320T>C	ENST00000314612.2	+	1	487	c.487T>C	c.(487-489)Ttt>Ctt	p.F163L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCTCACCATCTTTGTACCATT	0.383																																																	0													86.0	74.0	78.0					11																	55406320		2182	4006	6188	SO:0001583	missense	0			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.487T>C	11.37:g.55406320T>C	ENSP00000324831:p.Phe163Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F163L	ENST00000314612.2	37	c.487	CCDS31504.1	11	.	.	.	.	.	.	.	.	.	.	T	0.203	-1.043042	0.01997	.	.	ENSG00000181927	ENST00000314612	T	0.00002	9.86	5.37	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.775582	0.10939	N	0.617533	T	0.00039	0.0001	N	0.04746	-0.17	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.00857	-1.1538	10	0.23302	T	0.38	-12.2047	2.3601	0.04305	0.3668:0.2587:0.0:0.3745	.	163	Q8NGL7	OR4P4_HUMAN	L	163	ENSP00000324831:F163L	ENSP00000324831:F163L	F	+	1	0	OR4P4	55162896	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-2.920000	0.00694	0.858000	0.35431	-0.312000	0.09012	TTT	OR4P4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181927		0.383	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4P4	HGNC	protein_coding	OTTHUMT00000383356.1	-	0.00	59	0	T	NM_001004124		55406320	+1	tier1	-	no_errors	ENST00000314612	ensembl	human	known	74_37	missense	31.11	31	14	SNP	0.000	C
OR51F1	256892	genome.wustl.edu	37	11	4790663	4790663	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:4790663A>C	ENST00000380383.1	-	1	505	c.506T>G	c.(505-507)cTt>cGt	p.L169R	OR51F1_ENST00000343430.3_Missense_Mutation_p.L162R|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L162R(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGGAGCAAAAGTAGTGGCAA	0.398																																																	1	Substitution - Missense(1)	lung(1)											119.0	118.0	119.0					11																	4790663		2201	4298	6499	SO:0001583	missense	0			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.506T>G	11.37:g.4790663A>C	ENSP00000369744:p.Leu169Arg			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L169R	ENST00000380383.1	37	c.506		11	.	.	.	.	.	.	.	.	.	.	A	8.756	0.922562	0.18056	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00169	8.63;8.63	5.03	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.270315	0.26654	N	0.023197	T	0.00608	0.0020	M	0.88640	2.97	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.27434	-1.0074	10	0.62326	D	0.03	.	10.171	0.42911	0.8506:0.0:0.0:0.1494	.	169	A6NGY5	O51F1_HUMAN	R	162;169	ENSP00000345163:L162R;ENSP00000369744:L169R	ENSP00000345163:L162R	L	-	2	0	OR51F1	4747239	0.001000	0.12720	0.044000	0.18714	0.003000	0.03518	0.788000	0.26872	0.916000	0.36871	0.533000	0.62120	CTT	OR51F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000188069		0.398	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	OR51F1	HGNC	protein_coding		-	0.00	53	0	A	NM_001004752		4790663	-1	tier1	-	no_errors	ENST00000380383	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.102	C
OR4S2	219431	genome.wustl.edu	37	11	55418427	55418427	+	Silent	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55418427T>C	ENST00000312422.2	+	1	48	c.48T>C	c.(46-48)tcT>tcC	p.S16S		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GGGGTCTTTCTCAGAGCCCAG	0.358																																																	0													73.0	66.0	68.0					11																	55418427		2178	4007	6185	SO:0001819	synonymous_variant	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.48T>C	11.37:g.55418427T>C			Q6IF72	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S16	ENST00000312422.2	37	c.48	CCDS31505.1	11																																																																																			OR4S2	-	NULL	ENSG00000174982		0.358	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	-	0.00	56	0	T	NM_001004059		55418427	+1	tier1	-	no_errors	ENST00000312422	ensembl	human	known	74_37	silent	74.67	19	56	SNP	0.042	C
OR5L2	26338	genome.wustl.edu	37	11	55595355	55595355	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55595355A>C	ENST00000378397.1	+	1	661	c.661A>C	c.(661-663)Att>Ctt	p.I221L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTACCTGCTAATTCTCACCAC	0.502										HNSCC(27;0.073)																																							0													202.0	167.0	179.0					11																	55595355		2200	4296	6496	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.661A>C	11.37:g.55595355A>C	ENSP00000367650:p.Ile221Leu		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I221L	ENST00000378397.1	37	c.661	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	15.78	2.933570	0.52866	.	.	ENSG00000205030	ENST00000378397	T	0.00392	7.58	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.01320	0.0043	H	0.94734	3.575	0.33047	D	0.532274	P	0.50272	0.933	P	0.59288	0.855	T	0.01998	-1.1232	10	0.87932	D	0	-37.4186	14.3209	0.66487	1.0:0.0:0.0:0.0	.	221	Q8NGL0	OR5L2_HUMAN	L	221	ENSP00000367650:I221L	ENSP00000367650:I221L	I	+	1	0	OR5L2	55351931	1.000000	0.71417	0.549000	0.28204	0.040000	0.13550	6.775000	0.75018	2.115000	0.64714	0.514000	0.50259	ATT	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000205030		0.502	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	-	0.00	71	0	A	NM_001004739		55595355	+1	tier1	-	no_errors	ENST00000378397	ensembl	human	known	74_37	missense	20.00	43	11	SNP	0.882	C
OR5I1	10798	genome.wustl.edu	37	11	55703776	55703776	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55703776A>G	ENST00000301532.3	-	1	100	c.101T>C	c.(100-102)cTg>cCg	p.L34P		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	34					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATACAATGTCAGAAACATGAG	0.393																																																	0													66.0	64.0	64.0					11																	55703776		2200	4295	6495	SO:0001583	missense	0			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.101T>C	11.37:g.55703776A>G	ENSP00000301532:p.Leu34Pro		Q6IEU4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L34P	ENST00000301532.3	37	c.101	CCDS7949.1	11	.	.	.	.	.	.	.	.	.	.	A	13.04	2.119395	0.37436	.	.	ENSG00000167825	ENST00000301532	T	0.01981	4.52	5.05	3.78	0.43462	.	0.000000	0.37623	N	0.002006	T	0.15089	0.0364	M	0.92784	3.345	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.00159	-1.1974	10	0.87932	D	0	.	8.9655	0.35874	0.9012:0.0:0.0988:0.0	.	34	Q13606	OR5I1_HUMAN	P	34	ENSP00000301532:L34P	ENSP00000301532:L34P	L	-	2	0	OR5I1	55460352	0.000000	0.05858	0.516000	0.27786	0.061000	0.15899	1.335000	0.33839	0.743000	0.32719	0.519000	0.50382	CTG	OR5I1	-	prints_GPCR_Rhodpsn	ENSG00000167825		0.393	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1	-	0.00	50	0	A	NM_006637		55703776	-1	tier1	-	no_errors	ENST00000301532	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.980	G
OR5T2	219464	genome.wustl.edu	37	11	55999981	55999981	+	Silent	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55999981A>G	ENST00000313264.4	-	1	756	c.681T>C	c.(679-681)tcT>tcC	p.S227S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCAGAATAAGAAATAGCAA	0.423																																																	0													140.0	130.0	133.0					11																	55999981		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.681T>C	11.37:g.55999981A>G			B9EGX5|Q6IFC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S227	ENST00000313264.4	37	c.681	CCDS31523.1	11																																																																																			OR5T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181718		0.423	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	-	0.00	96	0	A	NM_001004746		55999981	-1	tier1	-	no_errors	ENST00000313264	ensembl	human	known	74_37	silent	39.44	43	28	SNP	0.001	G
OR5T3	390154	genome.wustl.edu	37	11	56020014	56020014	+	Silent	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:56020014C>A	ENST00000303059.3	+	1	339	c.339C>A	c.(337-339)gtC>gtA	p.V113V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAATGTTGGTCAATTTCCTGG	0.363																																																	0													131.0	131.0	131.0					11																	56020014		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.339C>A	11.37:g.56020014C>A			Q6IFC7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V113	ENST00000303059.3	37	c.339	CCDS31524.1	11																																																																																			OR5T3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172489		0.363	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1	-	0.00	106	0	C	NM_001004747		56020014	+1	tier1	-	no_errors	ENST00000303059	ensembl	human	known	74_37	silent	24.19	47	15	SNP	0.000	A
OR6F1	343169	genome.wustl.edu	37	1	247875936	247875936	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:247875936C>T	ENST00000302084.2	-	1	169	c.122G>A	c.(121-123)gGt>gAt	p.G41D	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGCCACATTACCACTAACTGT	0.468																																																	0													146.0	142.0	144.0					1																	247875936		2203	4300	6503	SO:0001583	missense	0			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.122G>A	1.37:g.247875936C>T	ENSP00000305640:p.Gly41Asp		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G41D	ENST00000302084.2	37	c.122	CCDS31095.1	1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254754	0.39896	.	.	ENSG00000169214	ENST00000302084	T	0.04360	3.64	3.99	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000430	T	0.27832	0.0685	H	0.94264	3.515	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.16571	-1.0398	10	0.87932	D	0	-22.0627	10.7886	0.46419	0.0:0.904:0.0:0.096	.	41	Q8NGZ6	OR6F1_HUMAN	D	41	ENSP00000305640:G41D	ENSP00000305640:G41D	G	-	2	0	OR6F1	245942559	0.001000	0.12720	0.012000	0.15200	0.010000	0.07245	0.630000	0.24553	1.013000	0.39391	0.591000	0.81541	GGT	OR6F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000169214		0.468	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6F1	HGNC	protein_coding	OTTHUMT00000096870.1	-	0.00	37	0	C	NM_001005286		247875936	-1	tier1	-	no_errors	ENST00000302084	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.002	T
OR7G2	390882	genome.wustl.edu	37	19	9213844	9213844	+	Missense_Mutation	SNP	C	C	T	rs201831795		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:9213844C>T	ENST00000305456.2	-	1	138	c.139G>A	c.(139-141)Gtc>Atc	p.V47I		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTGAAAAGGACGGGCTGCAGT	0.502																																					Esophageal Squamous(67;143 1448 28637 40648)												0													128.0	113.0	118.0					19																	9213844		2203	4300	6503	SO:0001583	missense	0				CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.139G>A	19.37:g.9213844C>T	ENSP00000303822:p.Val47Ile		Q6IFJ4|Q96RA0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V47I	ENST00000305456.2	37	c.139	CCDS32897.1	19	.	.	.	.	.	.	.	.	.	.	c	6.882	0.532118	0.13127	.	.	ENSG00000170923	ENST00000305456	T	0.00424	7.45	3.33	-6.65	0.01795	.	0.868307	0.09301	U	0.820950	T	0.00178	0.0005	N	0.13003	0.285	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.40701	-0.9549	10	0.39692	T	0.17	.	0.5605	0.00678	0.2088:0.1966:0.2412:0.3534	.	26	Q8NG99	OR7G2_HUMAN	I	47	ENSP00000303822:V47I	ENSP00000303822:V47I	V	-	1	0	OR7G2	9074844	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.278000	0.00261	-2.299000	0.00659	-2.890000	0.00095	GTC	OR7G2	-	prints_GPCR_Rhodpsn	ENSG00000170923		0.502	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G2	HGNC	protein_coding	OTTHUMT00000448994.1	-	0.00	71	0	C			9213844	-1	tier1	rs201831795	no_errors	ENST00000305456	ensembl	human	known	74_37	missense	36.36	35	20	SNP	0.000	T
OR7C2	26658	genome.wustl.edu	37	19	15052988	15052988	+	Missense_Mutation	SNP	G	G	T	rs79984510		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:15052988G>T	ENST00000248072.3	+	1	688	c.688G>T	c.(688-690)Gcc>Tcc	p.A230S		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					AAGAGTATCTGCCAGAGGCCA	0.483																																																	0													160.0	150.0	153.0					19																	15052988		2203	4300	6503	SO:0001583	missense	0			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.688G>T	19.37:g.15052988G>T	ENSP00000248072:p.Ala230Ser		O43881|Q6IFP9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A230S	ENST00000248072.3	37	c.688	CCDS12320.1	19	.	.	.	.	.	.	.	.	.	.	g	3.897	-0.022880	0.07634	.	.	ENSG00000127529	ENST00000248072	T	0.00174	8.62	3.98	-2.86	0.05717	GPCR, rhodopsin-like superfamily (1);	0.807847	0.10361	U	0.684027	T	0.00073	0.0002	N	0.17838	0.53	0.09310	N	1	B	0.23128	0.08	B	0.27608	0.081	T	0.10200	-1.0640	10	0.15952	T	0.53	.	0.384	0.00399	0.2949:0.1393:0.3207:0.2451	.	230	O60412	OR7C2_HUMAN	S	230	ENSP00000248072:A230S	ENSP00000248072:A230S	A	+	1	0	OR7C2	14913988	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.065000	0.14466	-0.121000	0.11787	-0.346000	0.07831	GCC	OR7C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000127529		0.483	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	HGNC	protein_coding	OTTHUMT00000466281.1		0.00	66	0	G			15052988	+1			no_errors	ENST00000248072	ensembl	human	known	74_37	missense	8.45	65	6	SNP	0.000	T
OR8J3	81168	genome.wustl.edu	37	11	55905031	55905031	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55905031A>C	ENST00000301529.1	-	1	163	c.164T>G	c.(163-165)cTt>cGt	p.L55R		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GGGGTTTTGAAGTCGAGAGTC	0.468																																																	0													148.0	143.0	145.0					11																	55905031		2201	4296	6497	SO:0001583	missense	0				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.164T>G	11.37:g.55905031A>C	ENSP00000301529:p.Leu55Arg		Q6IFB6|Q96RC2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L55R	ENST00000301529.1	37	c.164	CCDS31520.1	11	.	.	.	.	.	.	.	.	.	.	A	13.36	2.214321	0.39102	.	.	ENSG00000167822	ENST00000301529	T	0.14766	2.48	3.26	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000047	T	0.50377	0.1612	H	0.98802	4.335	0.33258	D	0.559339	D	0.89917	1.0	D	0.91635	0.999	T	0.66594	-0.5884	10	0.87932	D	0	.	8.1806	0.31309	0.897:0.0:0.103:0.0	.	55	Q8NGG0	OR8J3_HUMAN	R	55	ENSP00000301529:L55R	ENSP00000301529:L55R	L	-	2	0	OR8J3	55661607	1.000000	0.71417	0.014000	0.15608	0.289000	0.27227	7.657000	0.83745	0.280000	0.22209	0.240000	0.17902	CTT	OR8J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000167822		0.468	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J3	HGNC	protein_coding	OTTHUMT00000391542.1	-	0.00	96	0	A	NM_001004064		55905031	-1	tier1	-	no_errors	ENST00000301529	ensembl	human	known	74_37	missense	26.15	48	17	SNP	0.930	C
OSR1	130497	genome.wustl.edu	37	2	19552116	19552117	+	Frame_Shift_Ins	INS	-	-	GAAT			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:19552116_19552117insGAAT	ENST00000272223.2	-	3	1064_1065	c.720_721insATTC	c.(718-723)ttctgcfs	p.C241fs	OSR1_ENST00000536433.1_Frame_Shift_Ins_p.C241fs	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	241					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CTGGACTGGCAGAATCCTTTCC	0.46																																																	0																																										SO:0001589	frameshift_variant	0			BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.717_720dupATTC	2.37:g.19552117_19552120dupGAAT	ENSP00000272223:p.Cys241fs		B3KV97|D6W521	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C240fs	ENST00000272223.2	37	c.721_720	CCDS1694.1	2																																																																																			OSR1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000143867		0.460	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSR1	HGNC	protein_coding	OTTHUMT00000201432.2		0.00	31	0	-	NM_145260		19552117	-1	tier1		no_errors	ENST00000272223	ensembl	human	known	74_37	frame_shift_ins	12.20	36	5	INS	1.000:1.000	GAAT
P2RY1	5028	genome.wustl.edu	37	3	152553640	152553640	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:152553640G>A	ENST00000305097.3	+	1	905	c.69G>A	c.(67-69)tcG>tcA	p.S23S		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	23					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GTCCGGGTTCGTCCTGGGGGA	0.657																																																	0													34.0	34.0	34.0					3																	152553640		2203	4300	6503	SO:0001819	synonymous_variant	0			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.69G>A	3.37:g.152553640G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn	p.S23	ENST00000305097.3	37	c.69	CCDS3169.1	3																																																																																			P2RY1	-	NULL	ENSG00000169860		0.657	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY1	HGNC	protein_coding	OTTHUMT00000356943.1	-	0.00	154	0	G	NM_002563		152553640	+1	tier1	-	no_errors	ENST00000305097	ensembl	human	known	74_37	silent	63.41	30	52	SNP	0.001	A
PAH	5053	genome.wustl.edu	37	12	103288680	103288680	+	Missense_Mutation	SNP	A	A	C	rs199475570		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:103288680A>C	ENST00000553106.1	-	3	657	c.185T>G	c.(184-186)cTg>cGg	p.L62R	PAH_ENST00000307000.2_Missense_Mutation_p.L57R|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	62	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.		L -> P (in PKU). {ECO:0000269|PubMed:22513348}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.L62Q(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AATGTGGGTCAGGTTTACATC	0.438																																																	1	Substitution - Missense(1)	kidney(1)											109.0	103.0	105.0					12																	103288680		2203	4300	6503	SO:0001583	missense	0			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.185T>G	12.37:g.103288680A>C	ENSP00000448059:p.Leu62Arg		Q16717|Q8TC14	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	p.L62R	ENST00000553106.1	37	c.185	CCDS9092.1	12	.	.	.	.	.	.	.	.	.	.	A	25.8	4.676511	0.88445	.	.	ENSG00000171759	ENST00000553106;ENST00000307000;ENST00000551337;ENST00000546844	D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61	6.17	6.17	0.99709	Amino acid-binding ACT (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	H	0.98577	4.27	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.77557	0.99;0.974	D	0.97270	0.9910	10	0.87932	D	0	-11.9671	16.8222	0.85835	1.0:0.0:0.0:0.0	.	62;62	B4DPN2;P00439	.;PH4H_HUMAN	R	62;57;62;62	ENSP00000448059:L62R;ENSP00000303500:L57R;ENSP00000447620:L62R;ENSP00000446658:L62R	ENSP00000303500:L57R	L	-	2	0	PAH	101812810	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.400000	0.90200	2.371000	0.80710	0.533000	0.62120	CTG	PAH	-	pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra	ENSG00000171759		0.438	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAH	HGNC	protein_coding	OTTHUMT00000406692.1		0.00	44	0	A			103288680	-1			no_errors	ENST00000553106	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	C
PCDH9	5101	genome.wustl.edu	37	13	67799672	67799672	+	Silent	SNP	G	G	C	rs530659661		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:67799672G>C	ENST00000377865.2	-	1	3035	c.2901C>G	c.(2899-2901)ctC>ctG	p.L967L	PCDH9_ENST00000328454.5_Silent_p.L967L|PCDH9_ENST00000456367.1_Silent_p.L967L|PCDH9_ENST00000377861.3_Silent_p.L967L|PCDH9_ENST00000544246.1_Silent_p.L967L			Q9HC56	PCDH9_HUMAN	protocadherin 9	967					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTCCAAAGGGAGTTCCTGAA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		18687	0.001		0.0	False		,,,				2504	0.0																0													151.0	149.0	150.0					13																	67799672		2203	4300	6503	SO:0001819	synonymous_variant	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2901C>G	13.37:g.67799672G>C			A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L967	ENST00000377865.2	37	c.2901	CCDS9444.1	13																																																																																			PCDH9	-	pfam_Protocadherin	ENSG00000184226		0.493	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0.00	39	0	G	NM_203487		67799672	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	silent	15.56	38	7	SNP	1.000	C
PCDHB18	54660	genome.wustl.edu	37	5	140615746	140615746	+	RNA	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:140615746G>A	ENST00000526308.1	+	0	1809					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCTCCCCGGCGCTGAGCAGCG	0.687																																																	0																																												0			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615746G>A			B3KTF8	RNA	SNP	-	NULL	ENST00000526308.1	37	NULL		5																																																																																			PCDHB18	-	-	ENSG00000146001		0.687	PCDHB18-002	KNOWN	basic	processed_transcript	PCDHB18	HGNC	pseudogene	OTTHUMT00000394776.1	-	0.00	236	0	G			140615746	+1	tier1	-	no_errors	ENST00000526308	ensembl	human	known	74_37	rna	32.32	134	64	SNP	0.936	A
PCLO	27445	genome.wustl.edu	37	7	82584392	82584392	+	Silent	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:82584392A>C	ENST00000333891.9	-	5	6214	c.5877T>G	c.(5875-5877)tcT>tcG	p.S1959S	PCLO_ENST00000423517.2_Silent_p.S1959S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTACTAAAGATTCATAAA	0.378																																																	0													86.0	86.0	86.0					7																	82584392		1844	4094	5938	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5877T>G	7.37:g.82584392A>C				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S1959	ENST00000333891.9	37	c.5877	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	81	0	A	NM_014510		82584392	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	37.93	36	22	SNP	0.980	C
PCNXL3	399909	genome.wustl.edu	37	11	65389815	65389815	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:65389815G>A	ENST00000355703.3	+	11	2874	c.2335G>A	c.(2335-2337)Gcc>Acc	p.A779T		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	779						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGAGCGGCTTGCCCTGCTGGC	0.627																																																	0													19.0	23.0	21.0					11																	65389815		2062	4185	6247	SO:0001583	missense	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2335G>A	11.37:g.65389815G>A	ENSP00000347931:p.Ala779Thr		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.A779T	ENST00000355703.3	37	c.2335	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778297	0.31502	.	.	ENSG00000197136	ENST00000355703	T	0.51071	0.72	4.36	3.37	0.38596	.	.	.	.	.	T	0.25754	0.0627	N	0.11284	0.12	0.36660	D	0.877894	D	0.58268	0.982	P	0.48627	0.584	T	0.38972	-0.9636	9	0.02654	T	1	.	5.3664	0.16115	0.1113:0.2097:0.679:0.0	.	779	Q9H6A9	PCX3_HUMAN	T	779	ENSP00000347931:A779T	ENSP00000347931:A779T	A	+	1	0	PCNXL3	65146391	1.000000	0.71417	0.977000	0.42913	0.894000	0.52154	3.398000	0.52579	1.986000	0.57962	0.561000	0.74099	GCC	PCNXL3	-	NULL	ENSG00000197136		0.627	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	-	0.00	101	0	G	NM_032223		65389815	+1	tier1	-	no_errors	ENST00000355703	ensembl	human	known	74_37	missense	32.35	45	22	SNP	0.963	A
PDE2A	5138	genome.wustl.edu	37	11	72288494	72288494	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:72288494G>A	ENST00000334456.5	-	31	3005	c.2760C>T	c.(2758-2760)taC>taT	p.Y920Y	PDE2A_ENST00000418754.2_Silent_p.Y805Y|PDE2A_ENST00000376450.3_Silent_p.Y664Y|PDE2A_ENST00000444035.2_Silent_p.Y911Y|PDE2A_ENST00000540345.1_Silent_p.Y911Y|PDE2A_ENST00000544570.1_Silent_p.Y913Y	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	920					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CAGGCACCTCGTACTCCTCAT	0.612																																																	0													123.0	98.0	107.0					11																	72288494		2200	4293	6493	SO:0001819	synonymous_variant	0			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2760C>T	11.37:g.72288494G>A			B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.Y920	ENST00000334456.5	37	c.2760	CCDS8216.1	11																																																																																			PDE2A	-	NULL	ENSG00000186642		0.612	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	HGNC	protein_coding	OTTHUMT00000219839.2	-	0.00	79	0	G	NM_002599		72288494	-1	tier1	-	no_errors	ENST00000334456	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.086	A
PDZRN3	23024	genome.wustl.edu	37	3	73673769	73673769	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:73673769G>A	ENST00000263666.4	-	1	322	c.208C>T	c.(208-210)Ccg>Tcg	p.P70S	PDZRN3_ENST00000308537.4_Missense_Mutation_p.P70S|PDZRN3-AS1_ENST00000608743.1_RNA|PDZRN3-AS1_ENST00000608304.1_RNA|PDZRN3-AS1_ENST00000478988.1_RNA	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	70					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGCTTGAGCGGCAGGACGTGG	0.701																																																	0													10.0	9.0	9.0					3																	73673769		2172	4226	6398	SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.208C>T	3.37:g.73673769G>A	ENSP00000263666:p.Pro70Ser		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.P70S	ENST00000263666.4	37	c.208	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899059	0.72754	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.16324	2.35;2.35	4.66	3.76	0.43208	Zinc finger, RING/FYVE/PHD-type (1);	0.066029	0.64402	D	0.000009	T	0.39989	0.1099	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.27606	-1.0069	10	0.62326	D	0.03	.	13.675	0.62449	0.0:0.1562:0.8438:0.0	.	70	Q9UPQ7	PZRN3_HUMAN	S	70	ENSP00000263666:P70S;ENSP00000308831:P70S	ENSP00000263666:P70S	P	-	1	0	PDZRN3	73756459	1.000000	0.71417	0.987000	0.45799	0.571000	0.35966	6.890000	0.75633	0.879000	0.35944	0.313000	0.20887	CCG	PDZRN3	-	NULL	ENSG00000121440		0.701	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1		0.00	85	0	G	XM_041363		73673769	-1			no_errors	ENST00000263666	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A
PGBD4	161779	genome.wustl.edu	37	15	34396476	34396476	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:34396476delA	ENST00000397766.2	+	1	2203	c.1744delA	c.(1744-1746)aaafs	p.K583fs	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	583										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TTACCACACGAAAAAAAATTA	0.408																																																	0													85.0	75.0	79.0					15																	34396476		2201	4298	6499	SO:0001589	frameshift_variant	0			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1744delA	15.37:g.34396476delA	ENSP00000380872:p.Lys583fs		A1L487|A8K0C6|Q8N9E8	Frame_Shift_Del	DEL	NULL	p.N584fs	ENST00000397766.2	37	c.1744	CCDS10033.1	15																																																																																			PGBD4	-	NULL	ENSG00000182405		0.408	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PGBD4	HGNC	protein_coding	OTTHUMT00000251522.1		0.00	25	0	A			34396476	+1	tier1		no_errors	ENST00000397766	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	0.177	-
PHACTR2	9749	genome.wustl.edu	37	6	144033170	144033170	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:144033170delG	ENST00000427704.2	+	2	161	c.31delG	c.(31-33)gctfs	p.A11fs	PHACTR2_ENST00000440869.2_Frame_Shift_Del_p.A22fs|PHACTR2_ENST00000397980.3_Frame_Shift_Del_p.A22fs|PHACTR2_ENST00000367582.3_Frame_Shift_Del_p.A22fs|PHACTR2_ENST00000367584.4_Frame_Shift_Del_p.A79fs|PHACTR2_ENST00000305766.6_Frame_Shift_Del_p.A11fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	11							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		ACTGGACAAAGCTTCTATAGC	0.413																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)												0													149.0	147.0	148.0					6																	144033170		1859	4098	5957	SO:0001589	frameshift_variant	0			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.31delG	6.37:g.144033170delG	ENSP00000391763:p.Ala11fs		A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Del	DEL	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.A22fs	ENST00000427704.2	37	c.64	CCDS47492.1	6																																																																																			PHACTR2	-	NULL	ENSG00000112419		0.413	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	HGNC	protein_coding	OTTHUMT00000042528.2		0.00	86	0	G	NM_014721		144033170	+1	tier1		no_errors	ENST00000440869	ensembl	human	known	74_37	frame_shift_del	16.67	60	12	DEL	1.000	-
PHF1	5252	genome.wustl.edu	37	6	33380096	33380097	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:33380096_33380097insT	ENST00000374516.3	+	2	327_328	c.56_57insT	c.(55-60)gcttctfs	p.S20fs	PHF1_ENST00000459809.1_3'UTR|PHF1_ENST00000374512.3_Frame_Shift_Ins_p.S20fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	20					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TGGGACCCAGCTTCTCCTGCTC	0.614																																																	0																																										SO:0001589	frameshift_variant	0			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.58dupT	6.37:g.33380098_33380098dupT	ENSP00000363640:p.Ser20fs		B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S20fs	ENST00000374516.3	37	c.56_57	CCDS4777.1	6																																																																																			PHF1	-	NULL	ENSG00000112511		0.614	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF1	HGNC	protein_coding	OTTHUMT00000076175.3		0.00	67	0	-			33380097	+1	tier1		no_errors	ENST00000374516	ensembl	human	known	74_37	frame_shift_ins	15.66	70	13	INS	0.147:0.340	T
JADE2	23338	genome.wustl.edu	37	5	133880214	133880214	+	Intron	DEL	A	A	-			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:133880214delA	ENST00000402835.1	+	3	408				PHF15_ENST00000395003.1_Intron|PHF15_ENST00000282605.4_Intron|PHF15_ENST00000361895.2_Intron																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGGGGGTGAAGGGAACCCC	0.602																																																	0																																										SO:0001627	intron_variant	0																														ENST00000402835.1:c.153+6441A>-	5.37:g.133880214delA				RNA	DEL	-	NULL	ENST00000402835.1	37	NULL		5																																																																																			PHF15	-	-	ENSG00000043143		0.602	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1		0.00	11	0	A			133880214	+1	tier1		no_errors	ENST00000453515	ensembl	human	known	74_37	rna	33.33	4	2	DEL	0.000	-
PHKB	5257	genome.wustl.edu	37	16	47730372	47730372	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:47730372G>T	ENST00000323584.5	+	29	3000	c.2976G>T	c.(2974-2976)caG>caT	p.Q992H	PHKB_ENST00000566044.1_Missense_Mutation_p.Q985H|PHKB_ENST00000299167.8_Missense_Mutation_p.Q992H|PHKB_ENST00000455779.1_Missense_Mutation_p.Q985H	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	992					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATATTGACCAGCCACAGTACA	0.403																																																	0													120.0	107.0	111.0					16																	47730372		2201	4300	6501	SO:0001583	missense	0				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2976G>T	16.37:g.47730372G>T	ENSP00000313504:p.Gln992His		Q8N4T5	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.Q992H	ENST00000323584.5	37	c.2976	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	G	9.331	1.060639	0.19987	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	T;T	0.69806	-0.43;-0.43	5.55	4.6	0.57074	.	0.275907	0.37095	N	0.002247	T	0.70631	0.3246	L	0.58669	1.825	0.51767	D	0.999936	B;B;P	0.37708	0.008;0.001;0.606	B;B;P	0.47528	0.01;0.011;0.549	T	0.68187	-0.5475	10	0.30854	T	0.27	-16.1073	14.3567	0.66742	0.071:0.0:0.929:0.0	.	233;992;985	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	H	985;985;992	ENSP00000414345:Q985H;ENSP00000313504:Q992H	ENSP00000299167:Q985H	Q	+	3	2	PHKB	46287873	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	2.222000	0.42926	1.368000	0.46115	-0.142000	0.14014	CAG	PHKB	-	NULL	ENSG00000102893		0.403	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	-	0.00	48	0	G			47730372	+1	tier1	-	no_errors	ENST00000299167	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
PLA2G4D	283748	genome.wustl.edu	37	15	42377325	42377325	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:42377325G>T	ENST00000290472.3	-	6	534	c.440C>A	c.(439-441)cCa>cAa	p.P147Q		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	147					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GAGGTTTTCTGGGCGATCTGA	0.587																																																	0													132.0	121.0	125.0					15																	42377325		2203	4299	6502	SO:0001583	missense	0			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.440C>A	15.37:g.42377325G>T	ENSP00000290472:p.Pro147Gln		Q8N176	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.P147Q	ENST00000290472.3	37	c.440	CCDS32203.1	15	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232210	0.79688	.	.	ENSG00000159337	ENST00000290472	T	0.01246	5.11	4.9	4.9	0.64082	.	0.121669	0.37437	N	0.002096	T	0.08223	0.0205	M	0.79258	2.445	0.38979	D	0.958916	D	0.76494	0.999	D	0.70227	0.968	T	0.01858	-1.1259	10	0.66056	D	0.02	-5.4134	14.8061	0.69956	0.0:0.0:1.0:0.0	.	147	Q86XP0	PA24D_HUMAN	Q	147	ENSP00000290472:P147Q	ENSP00000290472:P147Q	P	-	2	0	PLA2G4D	40164617	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	5.365000	0.66116	2.274000	0.75844	0.561000	0.74099	CCA	PLA2G4D	-	NULL	ENSG00000159337		0.587	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4D	HGNC	protein_coding	OTTHUMT00000419317.1		0.00	35	0	G	NM_178034		42377325	-1			no_errors	ENST00000290472	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.976	T
PIAS1	8554	genome.wustl.edu	37	15	68434296	68434296	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:68434296G>T	ENST00000249636.6	+	3	630	c.482G>T	c.(481-483)aGt>aTt	p.S161I	PIAS1_ENST00000545237.1_Missense_Mutation_p.S163I	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	161	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TCAGACAACAGTCAGCGCTTT	0.358																																																	0													64.0	60.0	62.0					15																	68434296		1877	4116	5993	SO:0001583	missense	0			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.482G>T	15.37:g.68434296G>T	ENSP00000249636:p.Ser161Ile		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.S161I	ENST00000249636.6	37	c.482	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725230	0.48833	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.44083	0.93;0.93	5.63	5.63	0.86233	PINIT domain (1);	0.036438	0.85682	D	0.000000	T	0.52058	0.1711	L	0.38531	1.155	0.80722	D	1	D;P	0.55605	0.972;0.594	P;B	0.59825	0.864;0.261	T	0.31916	-0.9926	10	0.23891	T	0.37	-12.0775	19.679	0.95950	0.0:0.0:1.0:0.0	.	161;161	C5J4B4;O75925	.;PIAS1_HUMAN	I	161;163	ENSP00000249636:S161I;ENSP00000438574:S163I	ENSP00000249636:S161I	S	+	2	0	PIAS1	66221350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.243000	0.72384	2.641000	0.89580	0.585000	0.79938	AGT	PIAS1	-	NULL	ENSG00000033800		0.358	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	HGNC	protein_coding	OTTHUMT00000419642.2	-	0.00	59	0	G			68434296	+1	tier1	-	no_errors	ENST00000249636	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
PLEK	5341	genome.wustl.edu	37	2	68607874	68607874	+	Missense_Mutation	SNP	C	C	T	rs200352669		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:68607874C>T	ENST00000234313.7	+	3	397	c.218C>T	c.(217-219)aCg>aTg	p.T73M		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	73	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AAGATCACTACGACCAAACAG	0.483																																																	0													126.0	125.0	125.0					2																	68607874		2203	4300	6503	SO:0001583	missense	0			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.218C>T	2.37:g.68607874C>T	ENSP00000234313:p.Thr73Met		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology	p.T73M	ENST00000234313.7	37	c.218	CCDS1887.1	2	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600473	0.66332	.	.	ENSG00000115956	ENST00000234313	T	0.16597	2.33	5.79	3.95	0.45737	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.181365	0.64402	D	0.000015	T	0.26484	0.0647	M	0.88377	2.95	0.50467	D	0.999875	P;B	0.35050	0.482;0.138	B;B	0.35353	0.201;0.175	T	0.11131	-1.0600	10	0.66056	D	0.02	.	9.2401	0.37491	0.0:0.7473:0.1251:0.1276	.	91;73	Q59GZ2;P08567	.;PLEK_HUMAN	M	73	ENSP00000234313:T73M	ENSP00000234313:T73M	T	+	2	0	PLEK	68461378	0.992000	0.36948	0.776000	0.31678	0.964000	0.63967	3.103000	0.50298	1.418000	0.47098	0.650000	0.86243	ACG	PLEK	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000115956		0.483	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEK	HGNC	protein_coding	OTTHUMT00000251755.1	-	0.00	43	0	C	NM_002664		68607874	+1	tier1	rs200352669	no_errors	ENST00000234313	ensembl	human	known	74_37	missense	20.93	34	9	SNP	0.719	T
POMZP3	22932	genome.wustl.edu	37	7	76240862	76240862	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:76240862T>A	ENST00000310842.4	-	6	1168	c.484A>T	c.(484-486)Aaa>Taa	p.K162*	UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	162										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				CAGTCACCTTTGTTACAGCAT	0.532																																																	0													78.0	80.0	79.0					7																	76240862		2202	4291	6493	SO:0001587	stop_gained	0			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.484A>T	7.37:g.76240862T>A	ENSP00000309233:p.Lys162*		F6STJ3|Q12903|Q9BWB4	Nonsense_Mutation	SNP	pfam_ZP_dom	p.K162*	ENST00000310842.4	37	c.484	CCDS43606.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	16.86|16.86	3.239718|3.239718	0.58995|0.58995	.|.	.|.	ENSG00000146707|ENSG00000146707	ENST00000310842|ENST00000441393	.|.	.|.	.|.	0.786|0.786	-1.57|-1.57	0.08506|0.08506	.|.	0.865604|.	0.10039|.	U|.	0.723659|.	.|T	.|0.26738	.|0.0654	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33189	.|-0.9878	.|3	0.06365|.	T|.	0.9|.	.|.	3.461|3.461	0.07532|0.07532	0.0:0.0:0.4259:0.5741|0.0:0.0:0.4259:0.5741	.|.	.|.	.|.	.|.	X|L	162|98	.|.	ENSP00000309233:K162X|.	K|Q	-|-	1|2	0|0	POMZP3|POMZP3	76078798|76078798	0.866000|0.866000	0.29940|0.29940	0.879000|0.879000	0.34478|0.34478	0.815000|0.815000	0.46073|0.46073	1.919000|1.919000	0.40015|0.40015	-0.299000|-0.299000	0.08909|0.08909	0.305000|0.305000	0.20034|0.20034	AAA|CAA	POMZP3	-	NULL	ENSG00000146707		0.532	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMZP3	HGNC	protein_coding	OTTHUMT00000341775.1	-	0.00	27	0	T	NM_012230		76240862	-1	tier1	-	no_errors	ENST00000310842	ensembl	human	known	74_37	nonsense	30.77	18	8	SNP	0.952	A
PLOD3	8985	genome.wustl.edu	37	7	100850972	100850972	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:100850972G>A	ENST00000223127.3	-	17	2220	c.1822C>T	c.(1822-1824)Ccc>Tcc	p.P608S		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	608					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCCACGGTGGGCACATTCTCG	0.672																																																	0													119.0	90.0	100.0					7																	100850972		2203	4300	6503	SO:0001583	missense	0			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1822C>T	7.37:g.100850972G>A	ENSP00000223127:p.Pro608Ser		B2R6W6|Q540C3	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.P608S	ENST00000223127.3	37	c.1822	CCDS5715.1	7	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865598	0.91511	.	.	ENSG00000106397	ENST00000223127	D	0.85013	-1.93	4.3	4.3	0.51218	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.92021	0.7472	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;0.974	D;P	0.91635	0.999;0.742	D	0.93039	0.6455	10	0.66056	D	0.02	-27.1462	14.6321	0.68663	0.0:0.0:1.0:0.0	.	235;608	Q9UG85;O60568	.;PLOD3_HUMAN	S	608	ENSP00000223127:P608S	ENSP00000223127:P608S	P	-	1	0	PLOD3	100637692	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.366000	0.97143	2.117000	0.64856	0.462000	0.41574	CCC	PLOD3	-	smart_Pro_4_hyd_alph	ENSG00000106397		0.672	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLOD3	HGNC	protein_coding	OTTHUMT00000347470.1		0.00	126	0	G			100850972	-1			no_errors	ENST00000223127	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A
POU2F1	5451	genome.wustl.edu	37	1	167343365	167343365	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:167343365G>T	ENST00000541643.3	+	7	516	c.354G>T	c.(352-354)caG>caT	p.Q118H	POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000367862.5_Missense_Mutation_p.Q130H|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.Q141H|POU2F1_ENST00000452019.1_Missense_Mutation_p.Q118H|POU2F1_ENST00000420254.3_Missense_Mutation_p.Q118H			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	118					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CGCCTGCCCAGCAACAGTTAC	0.522																																																	0													62.0	56.0	58.0					1																	167343365		2203	4300	6503	SO:0001583	missense	0			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.354G>T	1.37:g.167343365G>T	ENSP00000441285:p.Gln118His		B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.Q141H	ENST00000541643.3	37	c.423		1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403953	0.25291	.	.	ENSG00000143190	ENST00000367866;ENST00000452019;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.81	3.95	0.45737	.	0.959185	0.08731	N	0.902089	T	0.73806	0.3634	L	0.57536	1.79	0.53005	D	0.999967	P;D;D;P	0.55605	0.924;0.972;0.972;0.875	P;P;P;B	0.52217	0.46;0.46;0.693;0.271	T	0.69844	-0.5035	10	0.87932	D	0	.	9.8314	0.40944	0.2083:0.0:0.7917:0.0	.	118;130;116;118	P14859-4;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	H	141;118;116;118;118;130;26	ENSP00000356840:Q141H;ENSP00000391523:Q118H;ENSP00000356839:Q116H;ENSP00000414660:Q118H;ENSP00000441285:Q118H;ENSP00000356836:Q130H;ENSP00000415993:Q26H	ENSP00000356836:Q130H	Q	+	3	2	POU2F1	165609989	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	3.816000	0.55658	0.805000	0.34159	-0.140000	0.14226	CAG	POU2F1	-	NULL	ENSG00000143190		0.522	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	POU2F1	HGNC	protein_coding			0.00	70	0	G	NM_002697		167343365	+1			no_errors	ENST00000367866	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
PPM1D	8493	genome.wustl.edu	37	17	58740749	58740749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:58740749C>T	ENST00000305921.3	+	6	1886	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	552					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GAAGCATAGACGAAATGGCTT	0.463											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					0													83.0	78.0	79.0					17																	58740749		2203	4300	6503	SO:0001587	stop_gained	0			U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1654C>T	17.37:g.58740749C>T	ENSP00000306682:p.Arg552*	1033	Q53XP4|Q6P991|Q8IVR6	Nonsense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.R552*	ENST00000305921.3	37	c.1654	CCDS11625.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.792247	0.98492	.	.	ENSG00000170836	ENST00000305921	.	.	.	6.08	5.1	0.69264	.	0.119916	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7031	8.6569	0.34068	0.2731:0.6587:0.0:0.0683	.	.	.	.	X	552	.	ENSP00000306682:R552X	R	+	1	2	PPM1D	56095531	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.428000	0.34892	1.542000	0.49330	0.591000	0.81541	CGA	PPM1D	-	NULL	ENSG00000170836		0.463	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1D	HGNC	protein_coding	OTTHUMT00000449474.1	-	0.00	46	0	C	NM_003620		58740749	+1	tier1	-	no_errors	ENST00000305921	ensembl	human	known	74_37	nonsense	62.26	20	33	SNP	0.999	T
PPP1R3D	5509	genome.wustl.edu	37	20	58514138	58514138	+	Silent	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:58514138C>T	ENST00000370996.3	-	1	1214	c.849G>A	c.(847-849)gcG>gcA	p.A283A	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	283					dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)	p.A283A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GCATGTGCAGCGCGTGGTTGC	0.657																																																	1	Substitution - coding silent(1)	endometrium(1)											46.0	47.0	47.0					20																	58514138		2203	4300	6503	SO:0001819	synonymous_variant	0			Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.849G>A	20.37:g.58514138C>T			Q6DK02	Silent	SNP	pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21	p.A283	ENST00000370996.3	37	c.849	CCDS13483.1	20																																																																																			PPP1R3D	-	pirsf_Pase-1_Glycogen_target-su_met	ENSG00000132825		0.657	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3D	HGNC	protein_coding	OTTHUMT00000079940.2		0.00	43	0	C	NM_006242		58514138	-1			no_errors	ENST00000370996	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.026	T
PRB3	5544	genome.wustl.edu	37	12	11420581	11420581	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:11420581G>A	ENST00000279573.7	-	3	737	c.602C>T	c.(601-603)cCg>cTg	p.P201L	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.P201L|PRB3_ENST00000538488.1_Missense_Mutation_p.P180L			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	201	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.632																																																	0													83.0	114.0	104.0					12																	11420581		1628	3653	5281	SO:0001583	missense	0					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.602C>T	12.37:g.11420581G>A	ENSP00000279573:p.Pro201Leu		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.P201L	ENST00000279573.7	37	c.602		12	.	.	.	.	.	.	.	.	.	.	.	7.574	0.667426	0.14710	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.06608	3.34;3.28	0.894	0.894	0.19242	.	0.000000	0.26109	U	0.026296	T	0.13072	0.0317	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.63877	0.919	T	0.04320	-1.0960	9	0.49607	T	0.09	.	4.1826	0.10383	0.0:0.0:0.6006:0.3994	.	201	Q04118	PRB3_HUMAN	L	201;180	ENSP00000371264:P201L;ENSP00000442626:P180L	ENSP00000279573:P201L	P	-	2	0	PRB3	11311848	0.099000	0.21834	0.002000	0.10522	0.018000	0.09664	2.322000	0.43814	0.809000	0.34255	0.134000	0.15878	CCG	PRB3	-	NULL	ENSG00000197870		0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	-	0.00	130	0	G	NM_006249		11420581	-1	tier1	-	no_errors	ENST00000381842	ensembl	human	known	74_37	missense	5.26	162	9	SNP	0.023	A
PREX2	80243	genome.wustl.edu	37	8	68930087	68930087	+	Silent	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:68930087T>C	ENST00000288368.4	+	2	425	c.148T>C	c.(148-150)Tta>Cta	p.L50L	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	50	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.L50V(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCAGGCATTCTTACACAGAAT	0.378																																																	2	Substitution - Missense(2)	large_intestine(2)											125.0	105.0	112.0					8																	68930087		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.148T>C	8.37:g.68930087T>C			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L50	ENST00000288368.4	37	c.148	CCDS6201.1	8																																																																																			PREX2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000046889		0.378	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0.00	37	0	T	NM_025170		68930087	+1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	silent	25.64	29	10	SNP	1.000	C
PRL	5617	genome.wustl.edu	37	6	22287671	22287671	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:22287671T>C	ENST00000306482.1	-	5	1162	c.644A>G	c.(643-645)aAg>aGg	p.K215R	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	215					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CTTCAGGAGCTTGAGATAATT	0.453																																																	0													283.0	249.0	260.0					6																	22287671		2203	4300	6503	SO:0001583	missense	0			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.644A>G	6.37:g.22287671T>C	ENSP00000302150:p.Lys215Arg		Q15199|Q92996	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.K215R	ENST00000306482.1	37	c.644	CCDS4548.1	6	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994454	0.74703	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.89939	-2.59	5.66	5.66	0.87406	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.040904	0.85682	D	0.000000	D	0.92485	0.7614	M	0.72118	2.19	0.80722	D	1	B;D	0.71674	0.015;0.998	B;D	0.77004	0.241;0.989	D	0.91783	0.5437	10	0.39692	T	0.17	-19.7393	16.2026	0.82095	0.0:0.0:0.0:1.0	.	215;216	P01236;Q5I0G2	PRL_HUMAN;.	R	215;184	ENSP00000302150:K215R	ENSP00000302150:K215R	K	-	2	0	PRL	22395650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.461000	0.66699	2.285000	0.76669	0.533000	0.62120	AAG	PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	ENSG00000172179		0.453	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	-	0.00	49	0	T	NM_000948		22287671	-1	tier1	-	no_errors	ENST00000306482	ensembl	human	known	74_37	missense	18.18	45	10	SNP	1.000	C
PROSER1	80209	genome.wustl.edu	37	13	39585557	39585557	+	Missense_Mutation	SNP	G	G	T	rs201222446		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:39585557G>T	ENST00000352251.3	-	13	3613	c.2780C>A	c.(2779-2781)gCg>gAg	p.A927E	PROSER1_ENST00000350125.3_Missense_Mutation_p.A905E|PROSER1_ENST00000484434.3_5'UTR	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	927																	TGTTCCTGGCGCTGAAGGATA	0.478																																																	0													88.0	84.0	86.0					13																	39585557		2203	4300	6503	SO:0001583	missense	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2780C>A	13.37:g.39585557G>T	ENSP00000332034:p.Ala927Glu		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NULL	p.A927E	ENST00000352251.3	37	c.2780	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955965	0.34471	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.35789	1.29;1.29	5.98	5.98	0.97165	.	.	.	.	.	T	0.25644	0.0624	N	0.14661	0.345	0.09310	N	1	P;P	0.36438	0.493;0.553	B;B	0.37091	0.241;0.24	T	0.16217	-1.0410	8	.	.	.	-5.5433	14.9653	0.71188	0.0:0.1421:0.8579:0.0	.	905;927	A6NJ97;Q86XN7	.;PRSR1_HUMAN	E	927;905	ENSP00000332034:A927E;ENSP00000339123:A905E	.	A	-	2	0	PROSER1	38483557	0.984000	0.35163	0.060000	0.19600	0.352000	0.29268	4.733000	0.62036	2.837000	0.97791	0.591000	0.81541	GCG	PROSER1	-	NULL	ENSG00000120685		0.478	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	-	0.00	58	0	G	NM_025138		39585557	-1	tier1	-	no_errors	ENST00000352251	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.328	T
PRSS35	167681	genome.wustl.edu	37	6	84233305	84233305	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:84233305G>A	ENST00000369700.3	+	2	322	c.145G>A	c.(145-147)Gca>Aca	p.A49T	PRSS35_ENST00000536636.1_Missense_Mutation_p.A49T	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	49						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CACCAGCCCCGCATTTGAGGC	0.463																																																	0													134.0	132.0	133.0					6																	84233305		2203	4300	6503	SO:0001583	missense	0			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.145G>A	6.37:g.84233305G>A	ENSP00000358714:p.Ala49Thr		A8K7B3|Q9BQP6	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.A49T	ENST00000369700.3	37	c.145	CCDS4999.1	6	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.483468	0.01027	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.42131	0.98;0.98	5.33	-3.81	0.04294	.	1.003210	0.08029	N	0.993230	T	0.03011	0.0089	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34725	-0.9817	10	0.10902	T	0.67	-5.1424	4.7476	0.13045	0.4513:0.0:0.3262:0.2225	.	49	Q8N3Z0	PRS35_HUMAN	T	49	ENSP00000440870:A49T;ENSP00000358714:A49T	ENSP00000358714:A49T	A	+	1	0	PRSS35	84290024	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	0.024000	0.13555	-0.979000	0.03529	-1.456000	0.01031	GCA	PRSS35	-	NULL	ENSG00000146250		0.463	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	-	0.00	68	0	G	NM_153362		84233305	+1	tier1	-	no_errors	ENST00000369700	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	A
PTMAP5	150928	genome.wustl.edu	37	13	82264250	82264250	+	RNA	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:82264250C>A	ENST00000607242.1	+	0	205									prothymosin, alpha pseudogene 5																		CCATCAAGGACTTAAAGGAGA	0.522																																																	0																																												0			S38627		13q13.1	2008-11-06	2008-04-03		ENSG00000214182	ENSG00000214182			9628	pseudogene	pseudogene	"""gene sequence 150"""		"""prothymosin, alpha pseudogene 5 (gene sequence 150)"""			1612591	Standard	NG_004798		Approved				OTTHUMG00000017147		13.37:g.82264250C>A				RNA	SNP	-	NULL	ENST00000607242.1	37	NULL		13																																																																																			PTMAP5	-	-	ENSG00000214182		0.522	PTMAP5-002	KNOWN	basic	processed_transcript	PTMAP5	HGNC	pseudogene	OTTHUMT00000470311.1	-	0.00	60	0	C			82264250	+1	tier1	-	no_errors	ENST00000607242	ensembl	human	known	74_37	rna	22.22	42	12	SNP	0.989	A
PTPRK	5796	genome.wustl.edu	37	6	128298110	128298110	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:128298110G>A	ENST00000368215.3	-	26	3797	c.3798C>T	c.(3796-3798)ggC>ggT	p.G1266G	PTPRK_ENST00000368227.3_Silent_p.G1284G|PTPRK_ENST00000368210.3_Silent_p.G1285G|PTPRK_ENST00000368213.5_Silent_p.G1273G|PTPRK_ENST00000368207.3_Silent_p.G1299G|PTPRK_ENST00000532331.1_Silent_p.G1289G|PTPRK_ENST00000368226.4_Silent_p.G1267G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1266	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGGAGGTACAGCCATAATCAT	0.393																																																	0													140.0	129.0	133.0					6																	128298110		2203	4300	6503	SO:0001819	synonymous_variant	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3798C>T	6.37:g.128298110G>A			B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.G1284	ENST00000368215.3	37	c.3852		6																																																																																			PTPRK	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000152894		0.393	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	-	0.00	64	0	G			128298110	-1	tier1	-	no_errors	ENST00000368227	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	A
PTPRK	5796	genome.wustl.edu	37	6	128321471	128321472	+	Intron	DNP	TC	TC	AT			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:128321471_128321472TC>AT	ENST00000368215.3	-	16	2491				PTPRK_ENST00000368227.3_Intron|PTPRK_ENST00000368210.3_Intron|PTPRK_ENST00000368213.5_Intron|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Intron|PTPRK_ENST00000532331.1_Intron|PTPRK_ENST00000368226.4_Intron			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAACATTTTTTCTTCCTGGAGA	0.337																																																	0																																										SO:0001627	intron_variant	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2492_2492delinsAT	6.37:g.128321471_128321472delinsAT			B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	RNA	SNP	-	NULL	ENST00000368215.3	37	NULL		6																																																																																			PTPRK	-	-	ENSG00000152894		0.337	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	-	0.00	92|89	0	T|C			128321471|128321472	-1	tier1	-	no_errors	ENST00000524481	ensembl	human	known	74_37	rna	26.44|25.29	64|65	23|22	SNP	1.000	A|T
PUS3	83480	genome.wustl.edu	37	11	125763901	125763901	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:125763901G>A	ENST00000530811.1	-	3	1270	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.R409C			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	409					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TTATATGTGCGCATCTTCACT	0.473																																																	0													201.0	190.0	194.0					11																	125763901		2201	4299	6500	SO:0001583	missense	0			BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.1225C>T	11.37:g.125763901G>A	ENSP00000432386:p.Arg409Cys		B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA	p.R409C	ENST00000530811.1	37	c.1225	CCDS8466.1	11	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748221	0.69533	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.35973	1.28;1.28	5.41	3.54	0.40534	.	0.107907	0.64402	D	0.000013	T	0.57242	0.2040	M	0.75777	2.31	0.53688	D	0.999979	D	0.89917	1.0	D	0.78314	0.991	T	0.59037	-0.7529	10	0.72032	D	0.01	-1.381	11.1437	0.48417	0.1414:0.0:0.8586:0.0	.	409	Q9BZE2	PUS3_HUMAN	C	409	ENSP00000227474:R409C;ENSP00000432386:R409C	ENSP00000227474:R409C	R	-	1	0	PUS3	125269111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.886000	0.56190	0.657000	0.30906	0.591000	0.81541	CGC	PUS3	-	NULL	ENSG00000110060		0.473	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS3	HGNC	protein_coding	OTTHUMT00000386783.1		0.00	92	0	G	NM_031307		125763901	-1			no_errors	ENST00000227474	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.988	A
RAPH1	65059	genome.wustl.edu	37	2	204306090	204306090	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:204306090delG	ENST00000319170.5	-	14	2122	c.1823delC	c.(1822-1824)cctfs	p.P608fs	RAPH1_ENST00000374493.3_Frame_Shift_Del_p.P660fs|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	608					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGGGATAAAGGGGGCACAAG	0.522																																																	0													32.0	35.0	34.0					2																	204306090		1762	3453	5215	SO:0001589	frameshift_variant	0			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1823delC	2.37:g.204306090delG	ENSP00000316543:p.Pro608fs		Q96Q37|Q9C0I2	Frame_Shift_Del	DEL	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.P660fs	ENST00000319170.5	37	c.1979	CCDS2359.1	2																																																																																			RAPH1	-	superfamily_Kinase-like_dom	ENSG00000173166		0.522	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2		0.00	24	0	G	NM_025252		204306090	-1	tier1		no_errors	ENST00000374493	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.975	-
RBM42	79171	genome.wustl.edu	37	19	36122048	36122048	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:36122048C>G	ENST00000262633.4	+	3	394	c.289C>G	c.(289-291)Cag>Gag	p.Q97E	RBM42_ENST00000589559.1_Missense_Mutation_p.Q97E|RBM42_ENST00000360475.4_Missense_Mutation_p.Q97E|RBM42_ENST00000586618.1_Missense_Mutation_p.Q97E|RBM42_ENST00000589871.1_Missense_Mutation_p.Q97E|RBM42_ENST00000592202.1_Missense_Mutation_p.Q97E|RBM42_ENST00000588161.1_Missense_Mutation_p.Q97E	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	97						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACAGGTCCAGCAGACTCTGGA	0.587																																																	0													76.0	76.0	76.0					19																	36122048		2203	4300	6503	SO:0001583	missense	0			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.289C>G	19.37:g.36122048C>G	ENSP00000262633:p.Gln97Glu		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q97E	ENST00000262633.4	37	c.289	CCDS12468.1	19	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448959	0.63178	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.26660	2.05;1.72	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	L	0.54323	1.7	0.53005	D	0.999966	D;P;P;P;P	0.58268	0.982;0.954;0.949;0.954;0.713	D;D;D;D;P	0.70227	0.968;0.932;0.922;0.932;0.68	T	0.39482	-0.9612	10	0.66056	D	0.02	-14.4828	15.3598	0.74464	0.0:1.0:0.0:0.0	.	97;97;97;97;97	B4DWT0;Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;.;RBM42_HUMAN	E	97	ENSP00000262633:Q97E;ENSP00000353663:Q97E	ENSP00000262633:Q97E	Q	+	1	0	RBM42	40813888	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.903000	0.69877	2.506000	0.84524	0.555000	0.69702	CAG	RBM42	-	NULL	ENSG00000126254		0.587	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM42	HGNC	protein_coding	OTTHUMT00000459057.2	-	0.00	67	0	C	NM_024321		36122048	+1	tier1	-	no_errors	ENST00000262633	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	G
RFTN1	23180	genome.wustl.edu	37	3	16419421	16419421	+	Silent	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:16419421C>T	ENST00000334133.4	-	5	902	c.630G>A	c.(628-630)gtG>gtA	p.V210V	RFTN1_ENST00000432519.1_Silent_p.V174V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	210					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GAGCACTGCACACATCCCCAG	0.632																																																	0													74.0	75.0	75.0					3																	16419421		2203	4300	6503	SO:0001819	synonymous_variant	0			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.630G>A	3.37:g.16419421C>T			Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	NULL	p.V210	ENST00000334133.4	37	c.630	CCDS33712.1	3																																																																																			RFTN1	-	NULL	ENSG00000131378		0.632	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFTN1	HGNC	protein_coding	OTTHUMT00000346908.1	-	0.00	83	0	C	NM_015150		16419421	-1	tier1	-	no_errors	ENST00000334133	ensembl	human	known	74_37	silent	20.83	38	10	SNP	0.000	T
RGPD3	653489	genome.wustl.edu	37	2	107040934	107040934	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:107040934T>G	ENST00000409886.3	-	20	3576	c.3489A>C	c.(3487-3489)aaA>aaC	p.K1163N	RGPD3_ENST00000304514.7_Missense_Mutation_p.K1163N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1163	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATTCCTCAAATTTCTGCTTGA	0.448																																																	0													2.0	2.0	2.0					2																	107040934		411	1014	1425	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3489A>C	2.37:g.107040934T>G	ENSP00000386588:p.Lys1163Asn		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.K1163N	ENST00000409886.3	37	c.3489	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	9.918	1.211364	0.22289	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.49139	0.79;0.79	2.35	-2.12	0.07165	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.56543	0.1992	L	0.56769	1.78	0.26904	N	0.967053	D	0.64830	0.994	D	0.71184	0.972	T	0.50742	-0.8792	9	0.37606	T	0.19	-30.7503	7.4329	0.27139	0.0:0.4844:0.0:0.5156	.	1163	A6NKT7	RGPD3_HUMAN	N	1163;921;1163	ENSP00000386588:K1163N;ENSP00000303659:K1163N	ENSP00000303659:K1163N	K	-	3	2	RGPD3	106407366	1.000000	0.71417	0.992000	0.48379	0.488000	0.33401	0.748000	0.26305	-0.783000	0.04534	-1.181000	0.01715	AAA	RGPD3	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000153165		0.448	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	-	0.00	151	0	T	XM_929931		107040934	-1	tier1	-	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	19.08	106	25	SNP	1.000	G
RGS12	6002	genome.wustl.edu	37	4	3418674	3418674	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:3418674G>A	ENST00000344733.5	+	8	3366	c.2462G>A	c.(2461-2463)cGc>cAc	p.R821H	RGS12_ENST00000338806.4_Missense_Mutation_p.R173H|RGS12_ENST00000538395.1_Missense_Mutation_p.R163H|RGS12_ENST00000336727.3_Missense_Mutation_p.R821H|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Missense_Mutation_p.R219H|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.R821H	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	821	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCTACACTCGCTTTCTGAAG	0.592																																																	0													80.0	82.0	82.0					4																	3418674		2203	4300	6503	SO:0001583	missense	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2462G>A	4.37:g.3418674G>A	ENSP00000339381:p.Arg821His		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.R821H	ENST00000344733.5	37	c.2462	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761895	0.89932	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.02197	4.4;4.4;4.4;4.4;4.4;4.4	4.5	4.5	0.54988	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	H	0.96861	3.895	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.998;0.998	D;D;D;D;D;D;D;D;D	0.97110	0.966;0.977;1.0;0.977;0.964;0.984;0.977;0.95;0.916	T	0.41752	-0.9491	10	0.87932	D	0	-30.2359	16.5515	0.84473	0.0:0.0:1.0:0.0	.	163;20;163;20;163;173;219;821;821	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	H	821;821;821;219;173;163	ENSP00000339381:R821H;ENSP00000338509:R821H;ENSP00000372238:R821H;ENSP00000304459:R219H;ENSP00000342133:R173H;ENSP00000438888:R163H	ENSP00000304459:R219H	R	+	2	0	RGS12	3388472	1.000000	0.71417	0.632000	0.29296	0.773000	0.43773	9.378000	0.97191	2.219000	0.72066	0.609000	0.83330	CGC	RGS12	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	ENSG00000159788		0.592	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	-	0.00	55	0	G	NM_002926		3418674	+1	tier1	-	no_errors	ENST00000344733	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	A
RGS6	9628	genome.wustl.edu	37	14	73006768	73006768	+	Intron	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:73006768G>A	ENST00000553530.1	+	16	1575				RGS6_ENST00000404301.2_Missense_Mutation_p.R463H|RGS6_ENST00000343854.6_Missense_Mutation_p.R426H|RGS6_ENST00000556437.1_Missense_Mutation_p.R463H|RGS6_ENST00000554782.1_Missense_Mutation_p.R324H|RGS6_ENST00000402788.2_Intron|RGS6_ENST00000406236.4_Missense_Mutation_p.R463H|RGS6_ENST00000553525.1_Missense_Mutation_p.R463H|RGS6_ENST00000555571.1_Intron|RGS6_ENST00000407322.4_Missense_Mutation_p.R463H|RGS6_ENST00000434263.2_Missense_Mutation_p.R394H	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6						G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GAGCAAGGTCGTAGAACTTCC	0.378																																					Ovarian(143;1926 2468 21071 48641)												0													23.0	24.0	24.0					14																	73006768		876	1990	2866	SO:0001627	intron_variant	0			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1368+3785G>A	14.37:g.73006768G>A			C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.R463H	ENST00000553530.1	37	c.1388	CCDS9808.1	14	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656522	0.67586	.	.	ENSG00000182732	ENST00000553525;ENST00000556437;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000343854;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T	0.33654	1.61;1.61;1.63;1.61;1.61;1.4;1.58;1.61	5.23	5.23	0.72850	.	.	.	.	.	T	0.30727	0.0774	L	0.27053	0.805	0.80722	D	1	B;B;B	0.18461	0.028;0.015;0.002	B;B;B	0.16722	0.016;0.005;0.005	T	0.03922	-1.0992	9	0.39692	T	0.17	-14.6097	19.3591	0.94428	0.0:0.0:1.0:0.0	.	394;463;468	B7Z7N5;P49758-2;Q59FJ8	.;.;.	H	463;463;463;463;463;426;394;324;324	ENSP00000451030:R463H;ENSP00000451855:R463H;ENSP00000385243:R463H;ENSP00000384218:R463H;ENSP00000384612:R463H;ENSP00000341199:R426H;ENSP00000412144:R394H;ENSP00000451912:R324H	ENSP00000341199:R426H	R	+	2	0	RGS6	72076521	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.544000	0.98092	2.879000	0.98667	0.650000	0.86243	CGT	RGS6	-	NULL	ENSG00000182732		0.378	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	-	0.00	73	0	G			73006768	+1	tier1	-	no_errors	ENST00000553525	ensembl	human	known	74_37	missense	51.06	23	24	SNP	1.000	A
RIMBP2	23504	genome.wustl.edu	37	12	130929802	130929802	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:130929802G>T	ENST00000261655.4	-	7	706	c.543C>A	c.(541-543)ttC>ttA	p.F181L	RIMBP2_ENST00000535703.1_Missense_Mutation_p.F89L|RIMBP2_ENST00000536002.1_Missense_Mutation_p.F89L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	181	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGGTCCATCGAAGGGGTTGT	0.562																																																	0													130.0	110.0	117.0					12																	130929802		2203	4300	6503	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.543C>A	12.37:g.130929802G>T	ENSP00000261655:p.Phe181Leu		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.F181L	ENST00000261655.4	37	c.543	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307666	0.60305	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.57907	0.37;0.37;0.37	3.38	-3.43	0.04810	Src homology-3 domain (3);	0.131711	0.53938	D	0.000060	T	0.42988	0.1227	N	0.05050	-0.12	0.32486	N	0.540797	B;D	0.71674	0.388;0.998	B;D	0.85130	0.19;0.997	T	0.53308	-0.8457	10	0.27082	T	0.32	-21.8991	10.7649	0.46288	0.6592:0.0:0.3408:0.0	.	89;181	O15034-2;O15034	.;RIMB2_HUMAN	L	181;89;89;89	ENSP00000261655:F181L;ENSP00000440347:F89L;ENSP00000439159:F89L	ENSP00000261655:F181L	F	-	3	2	RIMBP2	129495755	0.309000	0.24518	0.977000	0.42913	0.599000	0.36880	-0.193000	0.09573	-0.624000	0.05611	0.561000	0.74099	TTC	RIMBP2	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000060709		0.562	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1		0.00	54	0	G	NM_015347		130929802	-1			no_errors	ENST00000261655	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.953	T
RIMS2	9699	genome.wustl.edu	37	8	104924382	104924382	+	Silent	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:104924382A>G	ENST00000436393.2	+	4	1369	c.1128A>G	c.(1126-1128)ggA>ggG	p.G376G	RIMS2_ENST00000406091.3_Silent_p.G598G|RIMS2_ENST00000507740.1_Silent_p.G406G|RIMS2_ENST00000262231.10_Silent_p.G453G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	676					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGATTCAGGAGCAATGCTTG	0.373										HNSCC(12;0.0054)																																							0													108.0	106.0	106.0					8																	104924382		1849	4093	5942	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1128A>G	8.37:g.104924382A>G			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.G598	ENST00000436393.2	37	c.1794		8																																																																																			RIMS2	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ	ENSG00000176406		0.373	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0.00	55	0	A	NM_001100117		104924382	+1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	34.00	33	17	SNP	1.000	G
RIMS2	9699	genome.wustl.edu	37	8	105235954	105235954	+	Silent	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:105235954G>T	ENST00000339750.2	+	1	75	c.75G>T	c.(73-75)ctG>ctT	p.L25L	RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGAGTAGCCTGTCTGCCTCCT	0.662										HNSCC(12;0.0054)																																							0													18.0	18.0	18.0					8																	105235954		875	1991	2866	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000339750.2:c.75G>T	8.37:g.105235954G>T			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.L25	ENST00000339750.2	37	c.75		8																																																																																			RIMS2	-	NULL	ENSG00000176406		0.662	RIMS2-201	KNOWN	basic	protein_coding	RIMS2	HGNC	protein_coding		-	0.00	113	0	G	NM_001100117		105235954	+1	tier1	-	no_errors	ENST00000339750	ensembl	human	known	74_37	silent	31.25	55	25	SNP	0.970	T
RIPK1	8737	genome.wustl.edu	37	6	3078089	3078089	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:3078089G>A	ENST00000259808.4	+	3	539	c.241G>A	c.(241-243)Gtc>Atc	p.V81I	RIPK1_ENST00000541791.1_Missense_Mutation_p.V81I|RIPK1_ENST00000380409.2_Missense_Mutation_p.V81I|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> I (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.V81I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCTCCTGGGCGTCATCATAGA	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)											94.0	78.0	83.0					6																	3078089		2203	4300	6503	SO:0001583	missense	0			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.241G>A	6.37:g.3078089G>A	ENSP00000259808:p.Val81Ile		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death_domain,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V81I	ENST00000259808.4	37	c.241	CCDS4482.1	6	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537501	0.45176	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;D;T	0.83992	-0.15;-1.79;-0.15	5.61	-11.2	0.00127	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.736920	0.13963	N	0.350701	T	0.31888	0.0811	N	0.05351	-0.065	0.25169	N	0.990299	B;P	0.35307	0.108;0.494	B;B	0.26416	0.009;0.069	T	0.40496	-0.9560	10	0.23302	T	0.38	-4.775	9.7305	0.40359	0.1186:0.0806:0.6089:0.1919	.	81;81	Q13546-2;Q13546	.;RIPK1_HUMAN	I	81	ENSP00000259808:V81I;ENSP00000442294:V81I;ENSP00000369773:V81I	ENSP00000259808:V81I	V	+	1	0	RIPK1	3023088	0.000000	0.05858	0.227000	0.23927	0.865000	0.49528	-0.450000	0.06803	-1.560000	0.01686	-0.302000	0.09304	GTC	RIPK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000137275		0.582	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2		0.00	53	0	G	NM_003804		3078089	+1			no_errors	ENST00000259808	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.058	A
RNF150	57484	genome.wustl.edu	37	4	141888806	141888806	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:141888806G>A	ENST00000515673.2	-	2	739	c.706C>T	c.(706-708)Cga>Tga	p.R236*	RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000420921.2_Nonsense_Mutation_p.R95*|RNF150_ENST00000507500.1_Nonsense_Mutation_p.R236*|RNF150_ENST00000306799.3_Intron|RNF150_ENST00000379512.2_Nonsense_Mutation_p.R95*			Q9ULK6	RN150_HUMAN	ring finger protein 150	236						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TTTGCATATCGAAACCTCTGG	0.378																																																	0													78.0	76.0	76.0					4																	141888806		2203	4300	6503	SO:0001587	stop_gained	0			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.706C>T	4.37:g.141888806G>A	ENSP00000425840:p.Arg236*		Q3T1D0|Q6ZNW6	Nonsense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R236*	ENST00000515673.2	37	c.706	CCDS34065.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.342044	0.97489	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000515673;ENST00000507500;ENST00000506101	.	.	.	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1327	0.65266	0.0:0.0:0.6354:0.3646	.	.	.	.	X	95;95;236;236;67	.	ENSP00000368827:R95X	R	-	1	2	RNF150	142108256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.467000	0.45093	2.890000	0.99128	0.650000	0.86243	CGA	RNF150	-	NULL	ENSG00000170153		0.378	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF150	HGNC	protein_coding	OTTHUMT00000364739.2		0.00	56	0	G	XM_291090		141888806	-1			no_errors	ENST00000515673	ensembl	human	known	74_37	nonsense	13.64	19	3	SNP	1.000	A
ROS1	6098	genome.wustl.edu	37	6	117632255	117632255	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:117632255A>C	ENST00000368508.3	-	39	6359	c.6161T>G	c.(6160-6162)gTt>gGt	p.V2054G	ROS1_ENST00000368507.3_Missense_Mutation_p.V2048G	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2054	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TACAAGGTCAACCAAGGTGAG	0.343			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													120.0	113.0	115.0					6																	117632255		2203	4300	6503	SO:0001583	missense	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6161T>G	6.37:g.117632255A>C	ENSP00000357494:p.Val2054Gly		Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V2054G	ENST00000368508.3	37	c.6161	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	A	14.08	2.427701	0.43122	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.82433	-1.61;-1.61	5.85	-1.95	0.07548	.	0.853339	0.10304	N	0.690845	T	0.45357	0.1338	N	0.05280	-0.08	0.38950	D	0.95833	B	0.27013	0.166	B	0.28916	0.096	T	0.12319	-1.0552	10	0.35671	T	0.21	.	7.0405	0.25017	0.5246:0.0:0.361:0.1144	.	2054	P08922	ROS1_HUMAN	G	2054;2048	ENSP00000357494:V2054G;ENSP00000357493:V2048G	ENSP00000357493:V2048G	V	-	2	0	ROS1	117738948	0.982000	0.34865	0.996000	0.52242	0.974000	0.67602	0.259000	0.18405	-0.101000	0.12219	-0.263000	0.10527	GTT	ROS1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000047936		0.343	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1		0.00	40	0	A			117632255	-1			no_errors	ENST00000368508	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.753	C
RTN3	10313	genome.wustl.edu	37	11	63487976	63487976	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:63487976G>T	ENST00000377819.5	+	3	2156	c.2002G>T	c.(2002-2004)Gat>Tat	p.D668Y	RTN3_ENST00000339997.4_Missense_Mutation_p.D649Y|RTN3_ENST00000540798.1_Missense_Mutation_p.D556Y|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	668					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGGAATAGTAGATAGTGAAAG	0.373																																																	0													46.0	48.0	47.0					11																	63487976		2201	4297	6498	SO:0001583	missense	0			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2002G>T	11.37:g.63487976G>T	ENSP00000367050:p.Asp668Tyr		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.D668Y	ENST00000377819.5	37	c.2002	CCDS58141.1	11	.	.	.	.	.	.	.	.	.	.	G	3.840	-0.034049	0.07543	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.26660	1.72;1.72;1.73	5.59	1.55	0.23275	.	2.897090	0.01208	N	0.007765	T	0.17109	0.0411	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24483	0.104;0.063;0.104	B;B;B	0.20955	0.032;0.014;0.032	T	0.14952	-1.0454	10	0.34782	T	0.22	0.0161	3.4237	0.07402	0.1266:0.1394:0.5901:0.1438	.	556;668;649	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	Y	668;649;556	ENSP00000367050:D668Y;ENSP00000344106:D649Y;ENSP00000442733:D556Y	ENSP00000344106:D649Y	D	+	1	0	RTN3	63244552	0.001000	0.12720	0.000000	0.03702	0.045000	0.14185	0.735000	0.26115	0.101000	0.17610	0.655000	0.94253	GAT	RTN3	-	NULL	ENSG00000133318		0.373	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1	-	0.00	43	0	G	NM_006054		63487976	+1	tier1	-	no_errors	ENST00000377819	ensembl	human	known	74_37	missense	9.09	29	3	SNP	0.000	T
RYR3	6263	genome.wustl.edu	37	15	33895328	33895328	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:33895328C>T	ENST00000389232.4	+	18	1997	c.1927C>T	c.(1927-1929)Cgg>Tgg	p.R643W	RYR3_ENST00000415757.3_Missense_Mutation_p.R643W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	643	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		TTTCAGTATCCGGCCAAACAT	0.512																																																	0													75.0	79.0	78.0					15																	33895328		2019	4174	6193	SO:0001583	missense	0				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.1927C>T	15.37:g.33895328C>T	ENSP00000373884:p.Arg643Trp		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_dom,pfscan_MIR_motif	p.R643W	ENST00000389232.4	37	c.1927	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473956	0.63737	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97186	-4.28;-4.28	5.35	4.42	0.53409	B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	M	0.89601	3.045	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99301	1.0901	10	0.87932	D	0	.	12.1659	0.54129	0.4728:0.5272:0.0:0.0	.	643;643	Q15413-2;Q15413	.;RYR3_HUMAN	W	643	ENSP00000373884:R643W;ENSP00000399610:R643W	ENSP00000354735:R643W	R	+	1	2	RYR3	31682620	1.000000	0.71417	0.989000	0.46669	0.635000	0.38103	4.255000	0.58804	1.453000	0.47775	0.644000	0.83932	CGG	RYR3	-	pfscan_B30.2/SPRY	ENSG00000198838		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	38	0	C			33895328	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23912160	23912160	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:23912160A>C	ENST00000382292.3	-	9	6128	c.5855T>G	c.(5854-5856)gTt>gGt	p.V1952G	SACS_ENST00000382298.3_Missense_Mutation_p.V1952G|SACS_ENST00000402364.1_Missense_Mutation_p.V1202G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1952					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATCATCATGAACTAAATCAGG	0.408																																																	0													81.0	79.0	80.0					13																	23912160		2203	4299	6502	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5855T>G	13.37:g.23912160A>C	ENSP00000371729:p.Val1952Gly		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.V1952G	ENST00000382292.3	37	c.5855	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121847	0.56613	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.90133	-2.38;-2.62;-2.38	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	M	0.66939	2.045	0.80722	D	1	B	0.24721	0.11	B	0.24974	0.057	D	0.87301	0.2305	10	0.48119	T	0.1	.	16.0591	0.80826	1.0:0.0:0.0:0.0	.	1952	Q9NZJ4	SACS_HUMAN	G	1952;1202;1952	ENSP00000371729:V1952G;ENSP00000385844:V1202G;ENSP00000371735:V1952G	ENSP00000371729:V1952G	V	-	2	0	SACS	22810160	1.000000	0.71417	0.445000	0.26908	0.394000	0.30568	8.962000	0.93254	2.190000	0.69967	0.482000	0.46254	GTT	SACS	-	NULL	ENSG00000151835		0.408	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0.00	32	0	A	NM_014363		23912160	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	59.57	19	28	SNP	0.998	C
SAFB2	9667	genome.wustl.edu	37	19	5600224	5600224	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:5600224T>C	ENST00000252542.4	-	12	1871	c.1607A>G	c.(1606-1608)aAg>aGg	p.K536R	SAFB2_ENST00000591310.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	536	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GTCTTCAGGCTTTTTTTCCTC	0.388																																					Ovarian(127;888 1728 23957 44128 52668)												0													206.0	182.0	190.0					19																	5600224		2203	4300	6503	SO:0001583	missense	0			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1607A>G	19.37:g.5600224T>C	ENSP00000252542:p.Lys536Arg		B4DKG3|Q8TB13	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.K536R	ENST00000252542.4	37	c.1607	CCDS32879.1	19	.	.	.	.	.	.	.	.	.	.	T	7.600	0.672638	0.14776	.	.	ENSG00000130254	ENST00000252542	T	0.22336	1.96	5.28	-1.45	0.08828	.	1.438130	0.04463	N	0.374651	T	0.12475	0.0303	N	0.11000	0.08	0.09310	N	0.999996	B	0.13145	0.007	B	0.09377	0.004	T	0.33394	-0.9870	10	0.30078	T	0.28	-1.9012	11.2771	0.49174	0.0:0.4025:0.0:0.5975	.	536	Q14151	SAFB2_HUMAN	R	536	ENSP00000252542:K536R	ENSP00000252542:K536R	K	-	2	0	SAFB2	5551224	0.002000	0.14202	0.046000	0.18839	0.561000	0.35649	0.299000	0.19138	-0.219000	0.10003	-0.408000	0.06270	AAG	SAFB2	-	NULL	ENSG00000130254		0.388	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAFB2	HGNC	protein_coding	OTTHUMT00000451016.1		0.00	62	0	T	NM_014649		5600224	-1			no_errors	ENST00000252542	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.350	C
SAGE1	55511	genome.wustl.edu	37	X	134992321	134992321	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:134992321G>A	ENST00000370709.3	+	14	1856	c.1856G>A	c.(1855-1857)aGg>aAg	p.R619K	SAGE1_ENST00000324447.3_Missense_Mutation_p.R619K|SAGE1_ENST00000537770.1_Missense_Mutation_p.R243K|SAGE1_ENST00000535938.1_Missense_Mutation_p.R619K			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	619						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGAGTACCAGGGATCAGTGT	0.388																																																	0													143.0	122.0	129.0					X																	134992321		2203	4300	6503	SO:0001583	missense	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1856G>A	X.37:g.134992321G>A	ENSP00000359743:p.Arg619Lys		Q5JNW0	Missense_Mutation	SNP	NULL	p.R619K	ENST00000370709.3	37	c.1856	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026889	0.35797	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.38722	1.12;1.12;1.2;1.12	0.869	0.869	0.19096	.	0.078401	0.52532	U	0.000077	T	0.42585	0.1209	L	0.29908	0.895	0.09310	N	1	P;D	0.58268	0.917;0.982	P;P	0.60682	0.611;0.878	T	0.17684	-1.0361	9	0.56958	D	0.05	.	.	.	.	.	243;619	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	K	619;619;243;619	ENSP00000323191:R619K;ENSP00000445959:R619K;ENSP00000438276:R243K;ENSP00000359743:R619K	ENSP00000323191:R619K	R	+	2	0	SAGE1	134819987	0.009000	0.17119	0.087000	0.20705	0.070000	0.16714	0.207000	0.17395	0.701000	0.31803	0.171000	0.16805	AGG	SAGE1	-	NULL	ENSG00000181433		0.388	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	-	0.00	43	0	G	NM_018666		134992321	+1	tier1	-	no_errors	ENST00000324447	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.085	A
SAMD9L	219285	genome.wustl.edu	37	7	92763467	92763467	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:92763467G>T	ENST00000318238.4	-	5	3034	c.1818C>A	c.(1816-1818)aaC>aaA	p.N606K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N606K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N606K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	606					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATACTGTGGTTTGTTAGTT	0.363																																																	0													100.0	99.0	99.0					7																	92763467		2203	4299	6502	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1818C>A	7.37:g.92763467G>T	ENSP00000326247:p.Asn606Lys		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.N606K	ENST00000318238.4	37	c.1818	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	G	0.109	-1.141300	0.01728	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.20738	2.05;2.05;2.05	4.86	2.89	0.33648	.	0.475155	0.21183	N	0.078782	T	0.08802	0.0218	N	0.08118	0	0.24268	N	0.995252	B	0.14438	0.01	B	0.13407	0.009	T	0.37686	-0.9695	10	0.13853	T	0.58	-5.5217	7.0064	0.24838	0.0815:0.0:0.5407:0.3778	.	606	Q8IVG5	SAM9L_HUMAN	K	606	ENSP00000326247:N606K;ENSP00000405760:N606K;ENSP00000408796:N606K	ENSP00000326247:N606K	N	-	3	2	SAMD9L	92601403	0.000000	0.05858	0.979000	0.43373	0.716000	0.41182	0.078000	0.14761	0.499000	0.27970	0.467000	0.42956	AAC	SAMD9L	-	NULL	ENSG00000177409		0.363	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0.00	79	0	G	NM_152703		92763467	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.694	T
SAP130	79595	genome.wustl.edu	37	2	128757709	128757709	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:128757709G>A	ENST00000259235.3	-	9	1236	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	SAP130_ENST00000357702.5_Silent_p.F369F|SAP130_ENST00000259234.6_Silent_p.F343F	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	369					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGCCAGTACTGAAGATTGTTT	0.507																																																	0													104.0	105.0	105.0					2																	128757709		2203	4300	6503	SO:0001819	synonymous_variant	0			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1107C>T	2.37:g.128757709G>A			B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	NULL	p.F369	ENST00000259235.3	37	c.1107	CCDS2153.1	2																																																																																			SAP130	-	NULL	ENSG00000136715		0.507	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3		0.00	25	0	G	NM_024545		128757709	-1			no_errors	ENST00000357702	ensembl	human	known	74_37	silent	11.11	16	2	SNP	0.997	A
SCN10A	6336	genome.wustl.edu	37	3	38783782	38783782	+	Splice_Site	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:38783782G>A	ENST00000449082.2	-	13	2105	c.2106C>T	c.(2104-2106)atC>atT	p.I702I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	702					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GAGCACTCACGATGTTGCCTA	0.602																																																	0													87.0	65.0	73.0					3																	38783782		2203	4300	6503	SO:0001630	splice_region_variant	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2106+1C>T	3.37:g.38783782G>A			A6NDQ1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.I702	ENST00000449082.2	37	c.2106	CCDS33736.1	3																																																																																			SCN10A	-	pfam_Ion_trans_dom	ENSG00000185313		0.602	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	-	0.00	24	0	G	NM_006514	Silent	38783782	-1	tier1	-	no_errors	ENST00000449082	ensembl	human	known	74_37	silent	25.00	12	4	SNP	0.998	A
SDR16C5	195814	genome.wustl.edu	37	8	57224771	57224771	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:57224771C>G	ENST00000303749.3	-	3	1047	c.410G>C	c.(409-411)tGt>tCt	p.C137S	SDR16C5_ENST00000522671.1_Missense_Mutation_p.C137S|SDR16C5_ENST00000396721.2_Intron	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	137					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CTCATCTGGACAGTCAAGGAA	0.353																																																	0													108.0	100.0	103.0					8																	57224771		2203	4300	6503	SO:0001583	missense	0				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.410G>C	8.37:g.57224771C>G	ENSP00000307607:p.Cys137Ser		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.C137S	ENST00000303749.3	37	c.410	CCDS6167.1	8	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532590	0.45073	.	.	ENSG00000170786	ENST00000303749;ENST00000522671;ENST00000538514	D;D	0.86956	-2.19;-2.19	5.4	3.45	0.39498	NAD(P)-binding domain (1);	0.371433	0.31685	N	0.007233	T	0.65154	0.2664	N	0.02876	-0.465	0.37275	D	0.907573	B;B	0.28208	0.203;0.002	B;B	0.25506	0.061;0.017	T	0.65034	-0.6266	10	0.09843	T	0.71	.	8.321	0.32130	0.1374:0.4851:0.3775:0.0	.	137;137	G3V145;Q8N3Y7	.;RDHE2_HUMAN	S	137	ENSP00000307607:C137S;ENSP00000431010:C137S	ENSP00000307607:C137S	C	-	2	0	SDR16C5	57387325	0.020000	0.18652	0.990000	0.47175	0.988000	0.76386	0.870000	0.28010	2.541000	0.85698	0.650000	0.86243	TGT	SDR16C5	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000170786		0.353	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR16C5	HGNC	protein_coding	OTTHUMT00000378235.1	-	0.00	77	0	C	NM_138969		57224771	-1	tier1	-	no_errors	ENST00000303749	ensembl	human	known	74_37	missense	59.02	25	36	SNP	0.842	G
SEC31B	25956	genome.wustl.edu	37	10	102248621	102248621	+	Silent	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:102248621A>G	ENST00000370345.3	-	24	3379	c.3282T>C	c.(3280-3282)acT>acC	p.T1094T		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1094					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TTACTAAGTCAGTTGCAGACA	0.567																																																	0													99.0	96.0	97.0					10																	102248621		2203	4300	6503	SO:0001819	synonymous_variant	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3282T>C	10.37:g.102248621A>G			B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1094	ENST00000370345.3	37	c.3282	CCDS7495.1	10																																																																																			SEC31B	-	NULL	ENSG00000075826		0.567	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1		0.00	55	0	A	NM_015490		102248621	-1			no_errors	ENST00000370345	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.077	G
SEPT2	4735	genome.wustl.edu	37	2	242277134	242277134	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:242277134G>T	ENST00000391973.2	+	7	1051	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L	SEPT2_ENST00000391971.2_Missense_Mutation_p.V175L|SEPT2_ENST00000360051.3_Missense_Mutation_p.V175L|SEPT2_ENST00000402092.2_Missense_Mutation_p.V175L|SEPT2_ENST00000401990.1_Missense_Mutation_p.V185L|SEPT2_ENST00000407971.1_Missense_Mutation_p.V135L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	175	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		ACACAACAAGGTGAATATTGT	0.418																																																	0													97.0	92.0	94.0					2																	242277134		2203	4300	6503	SO:0001583	missense	0			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.523G>T	2.37:g.242277134G>T	ENSP00000375834:p.Val175Leu		B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin2	p.V175L	ENST00000391973.2	37	c.523	CCDS2548.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.456157|5.456157	0.96223|0.96223	.|.	.|.	ENSG00000168385|ENSG00000168385	ENST00000457874|ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	.|T;T;T;T;T;T;T;T	.|0.59083	.|0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80314|0.80314	0.4600|0.4600	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.89917	.|1.0;0.942;0.817	.|D;P;P	.|0.66351	.|0.943;0.643;0.521	D|D	0.85159|0.85159	0.0991|0.0991	5|10	.|0.87932	.|D	.|0	.|.	18.4845|18.4845	0.90824|0.90824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|210;135;175	.|Q15019-2;B5MCX3;Q15019	.|.;.;SEPT2_HUMAN	S|L	146|175;135;175;175;185;135;175;210;30	.|ENSP00000375834:V175L;ENSP00000397195:V135L;ENSP00000353157:V175L;ENSP00000375832:V175L;ENSP00000385109:V185L;ENSP00000384525:V135L;ENSP00000385172:V175L;ENSP00000408296:V30L	.|ENSP00000353157:V175L	R|V	+|+	3|1	2|0	SEPT2|SEPT2	241925807|241925807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.625000|9.625000	0.98406|0.98406	2.366000|2.366000	0.80165|0.80165	0.655000|0.655000	0.94253|0.94253	AGG|GTG	SEPT2	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000168385		0.418	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT2	HGNC	protein_coding	OTTHUMT00000323177.3	-	0.00	48	0	G	NM_006155		242277134	+1	tier1	-	no_errors	ENST00000360051	ensembl	human	known	74_37	missense	9.43	47	5	SNP	1.000	T
ELL3	80237	genome.wustl.edu	37	15	44069382	44069382	+	5'UTR	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:44069382G>T	ENST00000319359.3	-	0	359				RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000381359.1_5'UTR|ELL3_ENST00000497465.1_5'Flank|SERF2_ENST00000474290.1_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3						DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CCAGTTCTCGGGAGAAAGAGT	0.587																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.-283C>A	15.37:g.44069382G>T			B3KQ66|B3KX08|Q6I9Z7|Q9H634	RNA	SNP	-	NULL	ENST00000319359.3	37	NULL	CCDS10102.1	15																																																																																			SERF2	-	-	ENSG00000140264		0.587	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERF2	HGNC	protein_coding	OTTHUMT00000133236.2	-	0.00	48	0	G	NM_025165		44069382	+1	tier1	-	no_errors	ENST00000474290	ensembl	human	putative	74_37	rna	8.33	44	4	SNP	0.000	T
SERPINB9	5272	genome.wustl.edu	37	6	2890645	2890645	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:2890645G>A	ENST00000380698.4	-	7	972	c.883C>T	c.(883-885)Cag>Tag	p.Q295*		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	295					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GCCTTGCCCTGTTGGAAGGCA	0.468																																																	0													117.0	111.0	113.0					6																	2890645		2203	4300	6503	SO:0001587	stop_gained	0			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.883C>T	6.37:g.2890645G>A	ENSP00000370074:p.Gln295*		B2RBW3|Q5TD03	Nonsense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.Q295*	ENST00000380698.4	37	c.883	CCDS4478.1	6	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541022	0.65085	.	.	ENSG00000170542	ENST00000380698	.	.	.	4.53	-0.587	0.11690	.	1.320840	0.04879	N	0.447338	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	7.2122	0.25939	0.0747:0.4689:0.3509:0.1054	.	.	.	.	X	295	.	ENSP00000370074:Q295X	Q	-	1	0	SERPINB9	2835644	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.070000	0.03440	0.043000	0.15746	0.563000	0.77884	CAG	SERPINB9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	ENSG00000170542		0.468	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	-	0.00	71	0	G			2890645	-1	tier1	-	no_errors	ENST00000380698	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	0.000	A
SETDB2	83852	genome.wustl.edu	37	13	50042008	50042008	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:50042008C>T	ENST00000317257.8	+	6	1078	c.253C>T	c.(253-255)Cct>Tct	p.P85S	SETDB2_ENST00000354234.4_Missense_Mutation_p.P73S|SETDB2_ENST00000258672.5_Missense_Mutation_p.P73S	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	85					chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AGATCCTATGCCTGTGACTCA	0.343																																																	0													95.0	88.0	91.0					13																	50042008		2203	4299	6502	SO:0001583	missense	0			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.253C>T	13.37:g.50042008C>T	ENSP00000326477:p.Pro85Ser		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom	p.P85S	ENST00000317257.8	37	c.253	CCDS9417.1	13	.	.	.	.	.	.	.	.	.	.	C	2.948	-0.217315	0.06101	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;T	0.85556	-1.91;-2.0;1.4	4.96	0.534	0.17127	.	0.703769	0.14235	N	0.332454	T	0.56804	0.2010	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.19445	0.036;0.006;0.007	B;B;B	0.20184	0.028;0.007;0.004	T	0.46830	-0.9163	10	0.09843	T	0.71	.	0.2358	0.00186	0.2114:0.29:0.2093:0.2894	.	85;73;85	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	S	73;85;73	ENSP00000346175:P73S;ENSP00000326477:P85S;ENSP00000258672:P73S	ENSP00000258672:P73S	P	+	1	0	SETDB2	48940009	0.061000	0.20836	0.088000	0.20740	0.580000	0.36256	0.074000	0.14662	0.255000	0.21593	0.655000	0.94253	CCT	SETDB2	-	NULL	ENSG00000136169		0.343	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	HGNC	protein_coding	OTTHUMT00000044925.1	-	0.00	52	0	C	NM_031915		50042008	+1	tier1	-	no_errors	ENST00000317257	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.029	T
SEZ6L	23544	genome.wustl.edu	37	22	26688607	26688607	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:26688607G>A	ENST00000248933.6	+	2	425	c.330G>A	c.(328-330)aaG>aaA	p.K110K	SEZ6L_ENST00000360929.3_Silent_p.K110K|SEZ6L_ENST00000529632.2_Silent_p.K110K|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.K110K|SEZ6L_ENST00000404234.3_Silent_p.K110K|SEZ6L_ENST00000402979.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	110					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCGCCCCAAGCACGCCTTGC	0.642																																																	0													43.0	36.0	39.0					22																	26688607		2203	4300	6503	SO:0001819	synonymous_variant	0			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.330G>A	22.37:g.26688607G>A			A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.K110	ENST00000248933.6	37	c.330	CCDS13833.1	22																																																																																			SEZ6L	-	NULL	ENSG00000100095		0.642	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	-	0.00	134	0	G			26688607	+1	tier1	-	no_errors	ENST00000248933	ensembl	human	known	74_37	silent	32.35	69	33	SNP	0.000	A
SIN3A	25942	genome.wustl.edu	37	15	75705182	75705182	+	Silent	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:75705182A>G	ENST00000394947.3	-	5	992	c.678T>C	c.(676-678)caT>caC	p.H226H	SIN3A_ENST00000394949.4_Silent_p.H226H|SIN3A_ENST00000360439.4_Silent_p.H226H	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						gctgggaaggatgttggggtg	0.572																																																	0													149.0	122.0	131.0					15																	75705182		2197	4294	6491	SO:0001819	synonymous_variant	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.678T>C	15.37:g.75705182A>G				Silent	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.H226	ENST00000394947.3	37	c.678	CCDS10279.1	15																																																																																			SIN3A	-	NULL	ENSG00000169375		0.572	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	-	0.00	59	0	A	NM_015477		75705182	-1	tier1	-	no_errors	ENST00000360439	ensembl	human	known	74_37	silent	17.50	66	14	SNP	1.000	G
SIPA1L1	26037	genome.wustl.edu	37	14	72206004	72206004	+	3'UTR	SNP	G	G	A	rs371724165		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:72206004G>A	ENST00000555818.1	+	0	5889				SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_3'UTR|SIPA1L1_ENST00000381232.3_3'UTR|SIPA1L1_ENST00000537413.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1						actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCCCCCTTTCGGGGAGTGCAC	0.438																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.*126G>A	14.37:g.72206004G>A			J3KP19|O95321|Q9UDU4|Q9UNU4	RNA	SNP	-	NULL	ENST00000555818.1	37	NULL	CCDS9807.1	14																																																																																			SIPA1L1	-	-	ENSG00000197555		0.438	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	-	0.00	73	0	G	NM_015556		72206004	+1	tier1	-	no_errors	ENST00000554874	ensembl	human	known	74_37	rna	11.11	32	4	SNP	0.002	A
SLC1A3	6507	genome.wustl.edu	37	5	36608463	36608463	+	5'UTR	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:36608463C>T	ENST00000265113.4	+	0	414				SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_5'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3						auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGGTTTGGCTTTCTGTGGG	0.453																																																	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.-63C>T	5.37:g.36608463C>T			B2R5T3|Q4JCQ8	RNA	SNP	-	NULL	ENST00000265113.4	37	NULL	CCDS3919.1	5																																																																																			SLC1A3	-	-	ENSG00000079215		0.453	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A3	HGNC	protein_coding	OTTHUMT00000207579.2	-	0.00	38	0	C	NM_004172		36608463	+1	tier1	-	no_errors	ENST00000506725	ensembl	human	known	74_37	rna	26.79	41	15	SNP	0.049	T
SLC6A10P	386757	genome.wustl.edu	37	16	32893398	32893398	+	RNA	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:32893398A>C	ENST00000330048.5	-	0	1416					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		GACAGCCTCAAGACTTTGTTC	0.622																																																	0																																												0			U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32893398A>C				RNA	SNP	-	NULL	ENST00000330048.5	37	NULL		16																																																																																			SLC6A10P	-	-	ENSG00000214617		0.622	SLC6A10P-002	KNOWN	basic	processed_transcript	SLC6A10P	HGNC	pseudogene	OTTHUMT00000432081.2	-	0.00	22	0	A			32893398	-1	tier1	-	no_errors	ENST00000330048	ensembl	human	known	74_37	rna	46.15	7	6	SNP	0.980	C
SLC6A2	6530	genome.wustl.edu	37	16	55733505	55733505	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:55733505G>A	ENST00000379906.2	+	11	1784	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	SLC6A2_ENST00000568943.1_Missense_Mutation_p.G510E|SLC6A2_ENST00000219833.8_Missense_Mutation_p.G510E|SLC6A2_ENST00000567238.1_Missense_Mutation_p.G405E|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G510E|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G465E|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G510E	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	510					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGATGATGGGGTTCAGGCCG	0.592																																																	0													219.0	157.0	178.0					16																	55733505		2198	4300	6498	SO:0001583	missense	0				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1529G>A	16.37:g.55733505G>A	ENSP00000369237:p.Gly510Glu		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.G510E	ENST00000379906.2	37	c.1529	CCDS10754.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.123172	0.94429	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.80653	-1.4;-1.4;-1.4	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	D	0.91685	0.5361	10	0.87932	D	0	.	18.2862	0.90114	0.0:0.0:1.0:0.0	.	510;224;405;510	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	E	510;224;510;510	ENSP00000394956:G510E;ENSP00000369237:G510E;ENSP00000219833:G510E	ENSP00000219833:G510E	G	+	2	0	SLC6A2	54291006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.315000	0.96313	2.596000	0.87737	0.650000	0.86243	GGG	SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000103546		0.592	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	-	0.00	92	0	G			55733505	+1	tier1	-	no_errors	ENST00000219833	ensembl	human	known	74_37	missense	23.29	56	17	SNP	1.000	A
SLC9A4	389015	genome.wustl.edu	37	2	103148843	103148843	+	Missense_Mutation	SNP	G	G	T	rs549137706	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:103148843G>T	ENST00000295269.4	+	12	2550	c.2093G>T	c.(2092-2094)cGg>cTg	p.R698L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	698					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCATGCTCTCGGATAGGGTCA	0.448																																																	0													97.0	96.0	96.0					2																	103148843		2203	4300	6503	SO:0001583	missense	0				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2093G>T	2.37:g.103148843G>T	ENSP00000295269:p.Arg698Leu		Q69YK0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.R698L	ENST00000295269.4	37	c.2093	CCDS33264.1	2	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885733	0.33255	.	.	ENSG00000180251	ENST00000295269	T	0.50001	0.76	4.9	-3.11	0.05299	.	1.117350	0.06971	N	0.818078	T	0.30198	0.0757	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21518	-1.0243	10	0.52906	T	0.07	.	1.3763	0.02221	0.383:0.2411:0.2502:0.1257	.	698	Q6AI14	SL9A4_HUMAN	L	698	ENSP00000295269:R698L	ENSP00000295269:R698L	R	+	2	0	SLC9A4	102515275	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.603000	0.05674	-1.006000	0.03412	-0.140000	0.14226	CGG	SLC9A4	-	NULL	ENSG00000180251		0.448	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1		0.00	67	0	G	NM_001011552.3		103148843	+1			no_errors	ENST00000295269	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.000	T
SLC9A2	6549	genome.wustl.edu	37	2	103321112	103321112	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:103321112G>T	ENST00000233969.2	+	10	2097	c.1955G>T	c.(1954-1956)aGc>aTc	p.S652I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	652					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGGAAGGACAGCAGCTTGAAT	0.512																																																	0													106.0	90.0	95.0					2																	103321112		2203	4300	6503	SO:0001583	missense	0				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1955G>T	2.37:g.103321112G>T	ENSP00000233969:p.Ser652Ile		B2RMS2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S652I	ENST00000233969.2	37	c.1955	CCDS2062.1	2	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326083	0.41197	.	.	ENSG00000115616	ENST00000233969	T	0.57273	0.41	5.25	-1.3	0.09259	.	0.606220	0.18206	N	0.148354	T	0.36166	0.0957	L	0.29908	0.895	0.26334	N	0.977475	B	0.23735	0.09	B	0.25759	0.063	T	0.26985	-1.0087	10	0.39692	T	0.17	.	10.0843	0.42408	0.5479:0.0:0.4521:0.0	.	652	Q9UBY0	SL9A2_HUMAN	I	652	ENSP00000233969:S652I	ENSP00000233969:S652I	S	+	2	0	SLC9A2	102687544	0.066000	0.20996	0.998000	0.56505	0.937000	0.57800	-0.232000	0.09055	-0.066000	0.12998	-0.302000	0.09304	AGC	SLC9A2	-	NULL	ENSG00000115616		0.512	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	-	0.00	52	0	G			103321112	+1	tier1	-	no_errors	ENST00000233969	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.997	T
SLIT2	9353	genome.wustl.edu	37	4	20569203	20569203	+	Silent	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:20569203T>C	ENST00000504154.1	+	28	3165	c.2913T>C	c.(2911-2913)acT>acC	p.T971T	SLIT2_ENST00000273739.5_Silent_p.T975T|SLIT2_ENST00000503823.1_Silent_p.T963T|SLIT2_ENST00000503837.1_Silent_p.T967T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	971	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATGGAGGAACTTGCCACTTAA	0.443																																																	0													150.0	138.0	142.0					4																	20569203		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2913T>C	4.37:g.20569203T>C			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.T971	ENST00000504154.1	37	c.2913	CCDS3426.1	4																																																																																			SLIT2	-	pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000145147		0.443	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0.00	65	0	T			20569203	+1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.984	C
SLITRK4	139065	genome.wustl.edu	37	X	142718596	142718596	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:142718596T>G	ENST00000381779.4	-	2	554	c.329A>C	c.(328-330)aAg>aCg	p.K110T	SLITRK4_ENST00000338017.4_Missense_Mutation_p.K110T|SLITRK4_ENST00000356928.1_Missense_Mutation_p.K110T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	110						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCAACTGCTTTAATGCACT	0.413																																																	0													69.0	66.0	67.0					X																	142718596		2203	4300	6503	SO:0001583	missense	0			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.329A>C	X.37:g.142718596T>G	ENSP00000371198:p.Lys110Thr		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K110T	ENST00000381779.4	37	c.329	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	T	15.23	2.770962	0.49680	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.56611	0.45;0.45;0.45	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	L	0.39085	1.19	0.58432	D	0.999999	D	0.63880	0.993	P	0.59288	0.855	T	0.58014	-0.7711	10	0.41790	T	0.15	-12.2729	13.5168	0.61545	0.0:0.0:0.0:1.0	.	110	Q8IW52	SLIK4_HUMAN	T	110	ENSP00000371198:K110T;ENSP00000349400:K110T;ENSP00000336627:K110T	ENSP00000336627:K110T	K	-	2	0	SLITRK4	142546262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.289000	0.72696	1.876000	0.54355	0.486000	0.48141	AAG	SLITRK4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000179542		0.413	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	-	0.00	54	0	T	NM_173078		142718596	-1	tier1	-	no_errors	ENST00000338017	ensembl	human	known	74_37	missense	45.45	24	20	SNP	1.000	G
SMARCC2	6601	genome.wustl.edu	37	12	56557548	56557551	+	Splice_Site	DEL	GTCT	GTCT	-			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	GTCT	GTCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:56557548_56557551delGTCT	ENST00000267064.4	-	28	3655_3656	c.3569_3570delAGAC	c.(3568-3570)gag>g	p.E1190fs	SMARCC2_ENST00000550164.1_Splice_Site_p.E1221fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Splice_Site_p.E1128fs|SMARCC2_ENST00000347471.4_Splice_Site_p.E1106fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1190	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGTGCCTGGGTCTGTGGAGAAAA	0.623																																																	0																																										SO:0001630	splice_region_variant	0			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3569-1AGAC>-	12.37:g.56557548_56557551delGTCT			F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Del	DEL	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.D1190fs	ENST00000267064.4	37	c.3570_3569	CCDS8907.1	12																																																																																			SMARCC2	-	NULL	ENSG00000139613		0.623	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1		0.00	84	0	GTCT		Frame_Shift_Del	56557551	-1	tier1		no_errors	ENST00000267064	ensembl	human	known	74_37	frame_shift_del	32.53	56	27	DEL	1.000:1.000	-
SMPD3	55512	genome.wustl.edu	37	16	68405587	68405587	+	Silent	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:68405587C>T	ENST00000219334.5	-	3	1101	c.498G>A	c.(496-498)caG>caA	p.Q166Q	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000568373.1_Silent_p.Q166Q|SMPD3_ENST00000563226.1_Silent_p.Q166Q	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	166					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AAATTTTGATCTGGGGCCGGG	0.632																																																	0													33.0	40.0	38.0					16																	68405587		2198	4300	6498	SO:0001819	synonymous_variant	0			AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.498G>A	16.37:g.68405587C>T			B7ZL82|Q2M1S8	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.Q166	ENST00000219334.5	37	c.498	CCDS10867.1	16																																																																																			SMPD3	-	NULL	ENSG00000103056		0.632	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD3	HGNC	protein_coding	OTTHUMT00000268895.3		0.00	53	0	C	NM_018667		68405587	-1			no_errors	ENST00000219334	ensembl	human	known	74_37	silent	6.45	29	2	SNP	1.000	T
SNAP91	9892	genome.wustl.edu	37	6	84265929	84265929	+	Silent	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:84265929G>T	ENST00000439399.2	-	29	2983	c.2667C>A	c.(2665-2667)ccC>ccA	p.P889P	SNAP91_ENST00000520302.1_Silent_p.P859P|SNAP91_ENST00000437520.1_Silent_p.P582P|SNAP91_ENST00000520213.1_Silent_p.P582P|SNAP91_ENST00000428679.2_Silent_p.P889P|SNAP91_ENST00000369694.2_Silent_p.P889P|SNAP91_ENST00000195649.6_Silent_p.P884P|SNAP91_ENST00000521485.1_Silent_p.P884P|SNAP91_ENST00000521743.1_Silent_p.P889P	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	889	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GAGGTTTCTTGGGACTCTGAC	0.448																																																	0													76.0	71.0	73.0					6																	84265929		1869	4108	5977	SO:0001819	synonymous_variant	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2667C>A	6.37:g.84265929G>T			A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.P889	ENST00000439399.2	37	c.2667	CCDS47455.1	6																																																																																			SNAP91	-	NULL	ENSG00000065609		0.448	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1		0.00	51	0	G			84265929	-1			no_errors	ENST00000369694	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T
HTR2C	3358	genome.wustl.edu	37	X	113865309	113865309	+	Intron	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:113865309A>G	ENST00000276198.1	+	2	649				HTR2C_ENST00000371951.1_Intron|HTR2C_ENST00000371950.3_Intron|SNORA35_ENST00000386104.1_RNA	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled						behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGGGCATCAAGCGGTGCAAA	0.552																																																	0													49.0	45.0	46.0					X																	113865309		876	1991	2867	SO:0001627	intron_variant	0				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.-80+16970A>G	X.37:g.113865309A>G			B1AMW4|Q5VUF8|Q9NP28	RNA	SNP	-	NULL	ENST00000276198.1	37	NULL	CCDS14564.1	X																																																																																			SNORA35	-	-	ENSG00000208839		0.552	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA35	HGNC	protein_coding	OTTHUMT00000057962.1	-	0.00	18	0	A	NM_000868		113865309	+1	tier1	-	no_errors	ENST00000386104	ensembl	human	known	74_37	rna	46.15	14	12	SNP	1.000	G
SNHG24	101929369	genome.wustl.edu	37	14	101442866	101442866	+	lincRNA	SNP	G	G	A	rs373309604		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:101442866G>A	ENST00000554693.2	+	0	548				SNORD113_ENST00000364630.1_RNA|SNORD114-18_ENST00000365272.1_RNA|SNORD114-16_ENST00000363044.1_RNA|SNORD114-17_ENST00000364699.1_RNA|SNORD114-19_ENST00000363072.1_RNA|SNORD113_ENST00000364166.1_RNA																							TGGATGATACGTGTGTGGAAC	0.323																																																	0								G		1,1751		0,1,875	142.0	140.0	141.0			-2.9	0.0	14		141	0,3982		0,0,1991	no	intergenic				0,1,2866	AA,AG,GG		0.0,0.0571,0.0174			101442866	1,5733	876	1991	2867			0																															14.37:g.101442866G>A				RNA	SNP	-	NULL	ENST00000554693.2	37	NULL		14																																																																																			SNORD114-19	-	-	ENSG00000199942		0.323	RP11-909M7.3-001	KNOWN	basic	lincRNA	SNORD114-19	HGNC	lincRNA	OTTHUMT00000468646.1	-	0.00	116	0	G			101442866	+1	tier1	-	no_errors	ENST00000363072	ensembl	human	known	74_37	rna	51.24	59	62	SNP	0.000	A
SNTG2	54221	genome.wustl.edu	37	2	1271173	1271173	+	Silent	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:1271173T>C	ENST00000308624.5	+	14	1243	c.1114T>C	c.(1114-1116)Ttg>Ctg	p.L372L	SNTG2_ENST00000407292.1_Silent_p.L245L	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	372	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCAAGCAAACTTGTATCTGGG	0.522																																																	0													60.0	58.0	58.0					2																	1271173		1941	4147	6088	SO:0001819	synonymous_variant	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1114T>C	2.37:g.1271173T>C			Q05AH5	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L372	ENST00000308624.5	37	c.1114	CCDS46220.1	2																																																																																			SNTG2	-	NULL	ENSG00000172554		0.522	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0.00	77	0	T	NM_018968		1271173	+1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.938	C
SNX21	90203	genome.wustl.edu	37	20	44469672	44469672	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:44469672G>A	ENST00000491381.1	+	4	910	c.842G>A	c.(841-843)cGc>cAc	p.R281H	SNX21_ENST00000342644.5_Intron|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000372542.1_Missense_Mutation_p.R272H|SNX21_ENST00000344780.4_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	281					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GGCCCAGACCGCCCCCTGCTG	0.682																																																	0													11.0	13.0	13.0					20																	44469672		2192	4277	6469	SO:0001583	missense	0			AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.842G>A	20.37:g.44469672G>A	ENSP00000418593:p.Arg281His		Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	pfam_Phox,pfam_TPR_1,superfamily_Phox,smart_Phox,pfscan_Phox	p.R281H	ENST00000491381.1	37	c.842	CCDS13377.1	20	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497599	0.26861	.	.	ENSG00000124104	ENST00000491381;ENST00000372542	T;T	0.62105	0.05;0.05	4.44	3.49	0.39957	Tetratricopeptide-like helical (1);	0.458923	0.22913	N	0.054114	T	0.43743	0.1261	N	0.16478	0.41	0.49213	D	0.999768	B;B	0.14012	0.004;0.009	B;B	0.06405	0.002;0.002	T	0.26883	-1.0090	10	0.33141	T	0.24	-9.7778	11.1973	0.48719	0.0886:0.0:0.9114:0.0	.	272;281	Q5JZH3;Q969T3	.;SNX21_HUMAN	H	281;272	ENSP00000418593:R281H;ENSP00000361620:R272H	ENSP00000361620:R272H	R	+	2	0	SNX21	43903079	0.974000	0.33945	0.961000	0.40146	0.987000	0.75469	1.786000	0.38694	1.097000	0.41459	0.462000	0.41574	CGC	SNX21	-	NULL	ENSG00000124104		0.682	SNX21-010	KNOWN	basic|CCDS	protein_coding	SNX21	HGNC	protein_coding	OTTHUMT00000079534.1	-	0.00	45	0	G	NM_033421		44469672	+1	tier1	-	no_errors	ENST00000491381	ensembl	human	known	74_37	missense	14.29	48	8	SNP	0.580	A
SNX33	257364	genome.wustl.edu	37	15	75942122	75942122	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:75942122C>T	ENST00000308527.5	+	1	1876	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	227					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GAAGGCCAATCCCCACCCATT	0.552																																																	0													120.0	111.0	114.0					15																	75942122		2197	4294	6491	SO:0001583	missense	0			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.679C>T	15.37:g.75942122C>T	ENSP00000311427:p.Pro227Ser		B1NM17	Missense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.P227S	ENST00000308527.5	37	c.679	CCDS10283.1	15	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116207	0.37339	.	.	ENSG00000173548	ENST00000308527	T	0.27720	1.65	4.88	4.88	0.63580	Phox homologous domain (3);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	N	0.22421	0.69	0.80722	D	1	P	0.45474	0.859	P	0.55667	0.781	T	0.06570	-1.0819	10	0.36615	T	0.2	-8.8081	16.7787	0.85558	0.0:1.0:0.0:0.0	.	227	Q8WV41	SNX33_HUMAN	S	227	ENSP00000311427:P227S	ENSP00000311427:P227S	P	+	1	0	SNX33	73729177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.650000	0.83521	2.538000	0.85594	0.555000	0.69702	CCC	SNX33	-	superfamily_Phox,smart_Phox,pirsf_Snx9	ENSG00000173548		0.552	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX33	HGNC	protein_coding	OTTHUMT00000286471.1	-	0.00	68	0	C	NM_153271		75942122	+1	tier1	-	no_errors	ENST00000308527	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	T
SORCS3	22986	genome.wustl.edu	37	10	106907421	106907421	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:106907421T>C	ENST00000369701.3	+	9	1576	c.1349T>C	c.(1348-1350)gTc>gCc	p.V450A		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	450					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTTGCTGCGGTCCAAGAATGG	0.488																																					NSCLC(116;1497 1690 7108 13108 14106)												0													237.0	189.0	205.0					10																	106907421		2203	4300	6503	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1349T>C	10.37:g.106907421T>C	ENSP00000358715:p.Val450Ala		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.V450A	ENST00000369701.3	37	c.1349	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509389	0.85282	.	.	ENSG00000156395	ENST00000369701	T	0.38887	1.11	5.27	5.27	0.74061	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.66458	0.2791	M	0.82323	2.585	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.71414	-0.4600	10	0.56958	D	0.05	.	15.4904	0.75602	0.0:0.0:0.0:1.0	.	450	Q9UPU3	SORC3_HUMAN	A	450	ENSP00000358715:V450A	ENSP00000358715:V450A	V	+	2	0	SORCS3	106897411	1.000000	0.71417	0.931000	0.37212	0.836000	0.47400	6.249000	0.72427	2.133000	0.65898	0.528000	0.53228	GTC	SORCS3	-	smart_VPS10	ENSG00000156395		0.488	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0.00	74	0	T	NM_014978		106907421	+1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	22.81	44	13	SNP	1.000	C
SPHKAP	80309	genome.wustl.edu	37	2	228883123	228883123	+	Missense_Mutation	SNP	C	C	T	rs201425414		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:228883123C>T	ENST00000392056.3	-	7	2493	c.2447G>A	c.(2446-2448)cGt>cAt	p.R816H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R816H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	816						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGTGACTACGTGATAATTG	0.458																																																	0													622.0	588.0	600.0					2																	228883123		2203	4300	6503	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2447G>A	2.37:g.228883123C>T	ENSP00000375909:p.Arg816His		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.R816H	ENST00000392056.3	37	c.2447	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.286994	0.01387	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11495	2.77;2.77	5.97	-0.0112	0.13993	.	0.912315	0.09679	N	0.769986	T	0.04182	0.0116	N	0.14661	0.345	0.09310	N	1	B;P	0.39782	0.408;0.688	B;B	0.32805	0.037;0.153	T	0.37009	-0.9724	10	0.15066	T	0.55	.	3.8035	0.08767	0.2036:0.5084:0.0915:0.1966	.	816;816	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	H	816	ENSP00000375909:R816H;ENSP00000339886:R816H	ENSP00000339886:R816H	R	-	2	0	SPHKAP	228591367	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.262000	0.08682	-0.116000	0.11893	-0.797000	0.03246	CGT	SPHKAP	-	NULL	ENSG00000153820		0.458	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0.00	69	0	C	NM_030623		228883123	-1	tier1	rs201425414	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.000	T
SPRED1	161742	genome.wustl.edu	37	15	38545224	38545225	+	5'UTR	INS	-	-	G	rs531519324	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:38545224_38545225insG	ENST00000299084.4	+	0	698_699				SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1						inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGTTCCCGGCTGGGGGGGTACC	0.767									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)												0																																										SO:0001623	5_prime_UTR_variant	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.-162->G	15.37:g.38545231_38545231dupG			B2RPJ8|Q05D53|Q8N256	RNA	INS	-	NULL	ENST00000299084.4	37	NULL	CCDS32193.1	15																																																																																			SPRED1	-	-	ENSG00000166068		0.767	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	HGNC	protein_coding	OTTHUMT00000418217.1		0.00	26	0	-			38545225	+1	tier1		no_errors	ENST00000561205	ensembl	human	known	74_37	rna	28.57	15	6	INS	0.997:0.996	G
SRSF1	6426	genome.wustl.edu	37	17	56084379	56084379	+	Silent	SNP	G	G	A	rs371522057		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:56084379G>A	ENST00000258962.4	-	1	328	c.120C>T	c.(118-120)ggC>ggT	p.G40G	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000584773.1_Silent_p.G40G|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000585096.1_Silent_p.G40G|SRSF1_ENST00000582730.2_Silent_p.G40G	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	40	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGCGGATAGCGCCGTATTTGT	0.602																																																	0													188.0	147.0	161.0					17																	56084379		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.120C>T	17.37:g.56084379G>A			B2R6Z7|D3DTZ3|Q13809	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G40	ENST00000258962.4	37	c.120	CCDS11600.1	17																																																																																			SRSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000136450		0.602	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF1	HGNC	protein_coding	OTTHUMT00000443335.1		0.00	71	0	G	NM_006924		56084379	-1			no_errors	ENST00000258962	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.998	A
SSBP2	23635	genome.wustl.edu	37	5	80762872	80762872	+	Intron	SNP	A	A	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:80762872A>T	ENST00000320672.4	-	9	781				SSBP2_ENST00000515395.1_Missense_Mutation_p.L165I|SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000505980.1_Intron|SSBP2_ENST00000509053.1_Intron	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2						regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TGTAATGATAACCAAGGGTCA	0.418																																																	0													70.0	67.0	68.0					5																	80762872		2203	4300	6503	SO:0001627	intron_variant	0			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.571-12T>A	5.37:g.80762872A>T			B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.L165I	ENST00000320672.4	37	c.493	CCDS4056.1	5	.	.	.	.	.	.	.	.	.	.	a	17.73	3.460764	0.63513	.	.	ENSG00000145687	ENST00000504985;ENST00000515395	.	.	.	6.08	4.92	0.64577	.	0.273259	0.24630	N	0.036899	T	0.66366	0.2782	.	.	.	0.21527	N	0.99965	P;P	0.44776	0.843;0.843	D;D	0.66716	0.946;0.946	T	0.59193	-0.7500	7	.	.	.	-6.2957	12.3864	0.55335	0.9347:0.0:0.0653:0.0	.	165;165	E9PB74;B7Z665	.;.	I	101;165	.	.	L	-	1	2	SSBP2	80798628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.522000	0.73783	1.127000	0.42034	-0.332000	0.08345	TTA	SSBP2	-	NULL	ENSG00000145687		0.418	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP2	HGNC	protein_coding	OTTHUMT00000239249.1	-	0.00	70	0	A	NM_012446		80762872	-1	tier1	-	no_errors	ENST00000515395	ensembl	human	novel	74_37	missense	33.33	40	20	SNP	1.000	T
ST3GAL6	10402	genome.wustl.edu	37	3	98475373	98475373	+	5'UTR	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:98475373T>C	ENST00000394162.1	+	0	445				ST3GAL6_ENST00000265261.6_Intron|ST3GAL6_ENST00000483910.1_Intron|ST3GAL6_ENST00000462152.1_Intron	NM_001271145.1|NM_006100.3	NP_001258074.1|NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						ACACAGATTCTTAAAAGTGCA	0.448																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000394162.1:c.-23T>C	3.37:g.98475373T>C			B2RCH2|B3KMI1|D3DN39|F8W6U0	RNA	SNP	-	NULL	ENST00000394162.1	37	NULL	CCDS2933.1	3																																																																																			ST3GAL6	-	-	ENSG00000064225		0.448	ST3GAL6-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL6	HGNC	protein_coding		-	0.00	23	0	T	NM_006100		98475373	+1	tier1	-	no_errors	ENST00000465004	ensembl	human	known	74_37	rna	28.57	10	4	SNP	0.001	C
STAG1	10274	genome.wustl.edu	37	3	136240195	136240195	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:136240195C>T	ENST00000383202.2	-	7	792	c.536G>A	c.(535-537)tGt>tAt	p.C179Y	STAG1_ENST00000236698.5_Missense_Mutation_p.C179Y|STAG1_ENST00000480733.1_Missense_Mutation_p.C179Y|STAG1_ENST00000434713.2_De_novo_Start_OutOfFrame	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	179					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AATAAATTCACAAAAGTTTGA	0.368																																																	0													88.0	89.0	89.0					3																	136240195		2203	4300	6503	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.536G>A	3.37:g.136240195C>T	ENSP00000372689:p.Cys179Tyr		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.C179Y	ENST00000383202.2	37	c.536	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700328	0.88924	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	T;T;T	0.43294	1.59;1.59;0.95	5.78	5.78	0.91487	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72061	0.3414	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.76494	0.999;0.994;0.999;0.999	D;D;D;D	0.77004	0.989;0.979;0.985;0.983	T	0.72693	-0.4216	10	0.35671	T	0.21	.	20.0024	0.97423	0.0:1.0:0.0:0.0	.	196;179;179;179	Q4LE48;C9JJQ0;Q6P275;Q8WVM7	.;.;.;STAG1_HUMAN	Y	179	ENSP00000372689:C179Y;ENSP00000236698:C179Y;ENSP00000420789:C179Y	ENSP00000236698:C179Y	C	-	2	0	STAG1	137722885	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.722000	0.93159	0.467000	0.42956	TGT	STAG1	-	pfam_STAG,superfamily_ARM-type_fold	ENSG00000118007		0.368	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	-	0.00	64	0	C	NM_005862		136240195	-1	tier1	-	no_errors	ENST00000383202	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
STK25	10494	genome.wustl.edu	37	2	242441080	242441080	+	Missense_Mutation	SNP	C	C	T	rs200593123		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:242441080C>T	ENST00000316586.4	-	3	423	c.74G>A	c.(73-75)cGc>cAc	p.R25H	STK25_ENST00000535007.1_5'UTR|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000401869.1_Missense_Mutation_p.R25H|STK25_ENST00000405883.3_Intron|STK25_ENST00000403346.3_Missense_Mutation_p.R25H|STK25_ENST00000405585.1_Intron	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	25	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTTGCCAATGCGGTCGAGCTT	0.622																																					NSCLC(99;1100 1566 7679 28647 48345)												0													152.0	120.0	131.0					2																	242441080		2203	4300	6503	SO:0001583	missense	0			D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.74G>A	2.37:g.242441080C>T	ENSP00000325748:p.Arg25His		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R25H	ENST00000316586.4	37	c.74	CCDS2549.1	2	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570453	0.28003	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000436402;ENST00000426941;ENST00000420551	T;T;T;T;T;T	0.39997	1.81;1.81;1.81;1.05;1.05;1.05	3.78	1.95	0.26073	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067963	0.64402	D	0.000014	T	0.31513	0.0799	L	0.45698	1.435	0.80722	D	1	P;P	0.37573	0.6;0.563	B;B	0.32149	0.141;0.048	T	0.10800	-1.0614	10	0.62326	D	0.03	.	9.9645	0.41717	0.0:0.8268:0.0:0.1732	.	25;25	B4DZ52;O00506	.;STK25_HUMAN	H	25;25;25;25;25;40	ENSP00000325748:R25H;ENSP00000384162:R25H;ENSP00000385687:R25H;ENSP00000412617:R25H;ENSP00000414191:R25H;ENSP00000404552:R40H	ENSP00000325748:R25H	R	-	2	0	STK25	242089753	1.000000	0.71417	0.573000	0.28510	0.003000	0.03518	7.541000	0.82084	0.341000	0.23771	-0.253000	0.11424	CGC	STK25	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000115694		0.622	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK25	HGNC	protein_coding	OTTHUMT00000257265.4		0.00	50	0	C	NM_006374		242441080	-1			no_errors	ENST00000316586	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
STX16	8675	genome.wustl.edu	37	20	57251268	57251268	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:57251268G>A	ENST00000371141.4	+	9	1623	c.899G>A	c.(898-900)cGg>cAg	p.R300Q	STX16_ENST00000359617.4_Missense_Mutation_p.R247Q|STX16_ENST00000355957.5_Missense_Mutation_p.R283Q|STX16_ENST00000361770.5_Missense_Mutation_p.R283Q|STX16_ENST00000361830.3_Missense_Mutation_p.R300Q|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000371132.4_Missense_Mutation_p.R279Q|STX16_ENST00000358029.4_Missense_Mutation_p.R296Q	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	300					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			AAGAAGAATCGGAAGATGCTT	0.413																																																	0													222.0	216.0	218.0					20																	57251268		2203	4300	6503	SO:0001583	missense	0			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.899G>A	20.37:g.57251268G>A	ENSP00000360183:p.Arg300Gln		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R300Q	ENST00000371141.4	37	c.899	CCDS13468.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.678214	0.96764	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	T;T;T;T;T;T;T	0.69685	0.47;0.44;-0.42;0.44;0.48;0.45;0.44	5.74	4.77	0.60923	.	.	.	.	.	T	0.82006	0.4943	M	0.85945	2.785	0.53688	D	0.999979	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.74023	0.96;0.982;0.979;0.941	D	0.83408	0.0026	9	0.44086	T	0.13	.	13.3514	0.60603	0.0787:0.0:0.9213:0.0	.	296;283;279;300	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	Q	283;283;247;300;247;279;296;300;194;114	ENSP00000348229:R283Q;ENSP00000355408:R283Q;ENSP00000352634:R247Q;ENSP00000360183:R300Q;ENSP00000360173:R279Q;ENSP00000350723:R296Q;ENSP00000354445:R300Q	ENSP00000360180:R247Q	R	+	2	0	STX16	56684674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.830000	0.75319	1.502000	0.48669	0.563000	0.77884	CGG	STX16	-	NULL	ENSG00000124222		0.413	STX16-002	KNOWN	basic|CCDS	protein_coding	STX16	HGNC	protein_coding	OTTHUMT00000080517.2	-	0.00	42	0	G	NM_001001433		57251268	+1	tier1	-	no_errors	ENST00000361830	ensembl	human	known	74_37	missense	46.05	41	35	SNP	1.000	A
STX17	55014	genome.wustl.edu	37	9	102691114	102691114	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:102691114C>T	ENST00000259400.6	+	3	314	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	STX17_ENST00000534052.1_Missense_Mutation_p.R60C|STX17_ENST00000525640.1_Missense_Mutation_p.R60C|RP11-60I3.4_ENST00000524512.1_RNA	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	60					autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAATGCAGGACGTACAGTTCA	0.338																																																	0													85.0	89.0	88.0					9																	102691114		2203	4300	6503	SO:0001583	missense	0			AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.178C>T	9.37:g.102691114C>T	ENSP00000259400:p.Arg60Cys		Q4VXC2	Missense_Mutation	SNP	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R60C	ENST00000259400.6	37	c.178	CCDS6745.1	9	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182595	0.78677	.	.	ENSG00000136874	ENST00000259400;ENST00000525640;ENST00000534052	T;T;T	0.24538	1.85;1.85;1.85	4.86	4.86	0.63082	t-SNARE (1);	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.976;0.994	T	0.45833	-0.9234	10	0.87932	D	0	-8.3548	15.1636	0.72803	0.0:1.0:0.0:0.0	.	60;60	P56962;B4DJ69	STX17_HUMAN;.	C	60	ENSP00000259400:R60C;ENSP00000435981:R60C;ENSP00000433484:R60C	ENSP00000259400:R60C	R	+	1	0	STX17	101730935	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	4.475000	0.60210	2.240000	0.73641	0.460000	0.39030	CGT	STX17	-	superfamily_t-SNARE	ENSG00000136874		0.338	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	STX17	HGNC	protein_coding	OTTHUMT00000053398.3	-	0.00	55	0	C	NM_017919		102691114	+1	tier1	-	no_errors	ENST00000259400	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	T
SVOPL	136306	genome.wustl.edu	37	7	138279284	138279285	+	IGR	INS	-	-	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:138279284_138279285insA	ENST00000419765.3	-	0	1523				SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000436657.1_3'UTR|SVOPL_ENST00000421622.1_3'UTR|SVOPL_ENST00000288513.5_3'UTR	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like							integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AACCAAGTTTTAAAAAAATGCA	0.322																																																	0																																										SO:0001628	intergenic_variant	0			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870		7.37:g.138279291_138279291dupA				RNA	INS	-	NULL	ENST00000419765.3	37	NULL	CCDS47721.1	7																																																																																			SVOPL	-	-	ENSG00000157703		0.322	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4		0.00	114	0	-	NM_174959		138279285	-1	tier1		no_errors	ENST00000463557	ensembl	human	known	74_37	rna	21.62	58	16	INS	0.030:0.003	A
SYNE1	23345	genome.wustl.edu	37	6	152765647	152765647	+	Missense_Mutation	SNP	C	C	T	rs138915528	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:152765647C>T	ENST00000367255.5	-	30	4337	c.3736G>A	c.(3736-3738)Gaa>Aaa	p.E1246K	SYNE1_ENST00000367253.4_Missense_Mutation_p.E1246K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1236K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1312K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1246K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1253K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1253K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E1246K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1246					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTAATTCTTCGAGAGAATTT	0.348										HNSCC(10;0.0054)			C|||	2	0.000399361	0.0008	0.0	5008	,	,		17824	0.001		0.0	False		,,,				2504	0.0																0								C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	81.0	81.0	81.0		3757,3736	5.1	1.0	6	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1253/8750,1246/8798	152765647	1,13005	2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3736G>A	6.37:g.152765647C>T	ENSP00000356224:p.Glu1246Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E1246K	ENST00000367255.5	37	c.3736	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269292	0.59540	0.0	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88277	0.6;0.59;0.5;0.59;0.67;-2.21;-2.36;-2.36	5.96	5.09	0.68999	.	0.091297	0.47093	N	0.000245	T	0.79736	0.4497	M	0.66939	2.045	0.80722	D	1	B;P;B;B;P;P	0.50943	0.137;0.9;0.117;0.092;0.9;0.94	B;B;B;B;B;B	0.42062	0.028;0.13;0.025;0.033;0.13;0.374	T	0.78866	-0.2035	10	0.13853	T	0.58	.	11.2371	0.48946	0.0:0.8606:0.0:0.1394	.	1229;1246;1236;1246;1246;1253	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	K	1246;1253;1246;1253;1312;1246;1236;1246	ENSP00000356224:E1246K;ENSP00000396024:E1253K;ENSP00000265368:E1246K;ENSP00000390975:E1253K;ENSP00000341887:E1312K;ENSP00000356222:E1246K;ENSP00000356217:E1236K;ENSP00000414510:E1246K	ENSP00000265368:E1246K	E	-	1	0	SYNE1	152807340	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	3.589000	0.53972	1.528000	0.49103	0.655000	0.94253	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	97	0	C	NM_182961		152765647	-1	tier1	rs138915528	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	35.00	52	28	SNP	1.000	T
SYT17	51760	genome.wustl.edu	37	16	19195254	19195254	+	Missense_Mutation	SNP	G	G	T	rs144009523	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:19195254G>T	ENST00000355377.2	+	5	1134	c.736G>T	c.(736-738)Ggg>Tgg	p.G246W	SYT17_ENST00000568115.1_Missense_Mutation_p.G185W|SYT17_ENST00000562711.2_Missense_Mutation_p.G242W|SYT17_ENST00000562034.1_Missense_Mutation_p.G185W	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	246	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AAAGCAGACCGGGGTCAAACG	0.607																																																	0													122.0	113.0	117.0					16																	19195254		2197	4300	6497	SO:0001583	missense	0				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.736G>T	16.37:g.19195254G>T	ENSP00000347538:p.Gly246Trp		O43330|Q9NZ18	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.G246W	ENST00000355377.2	37	c.736	CCDS10575.1	16	.	.	.	.	.	.	.	.	.	.	g	19.45	3.829487	0.71258	.	.	ENSG00000103528	ENST00000355377	T	0.69306	-0.39	5.65	5.65	0.86999	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000007	T	0.80999	0.4732	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.81951	-0.0698	10	0.87932	D	0	.	19.7405	0.96228	0.0:0.0:1.0:0.0	.	246;185	Q9BSW7;B4DJB2	SYT17_HUMAN;.	W	246	ENSP00000347538:G246W	ENSP00000347538:G246W	G	+	1	0	SYT17	19102755	0.999000	0.42202	0.283000	0.24790	0.752000	0.42762	3.768000	0.55295	2.661000	0.90470	0.558000	0.71614	GGG	SYT17	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000103528		0.607	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT17	HGNC	protein_coding	OTTHUMT00000254286.2		0.00	58	0	G	NM_016524		19195254	+1			no_errors	ENST00000355377	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.650	T
TAS2R60	338398	genome.wustl.edu	37	7	143140667	143140667	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:143140667C>T	ENST00000332690.1	+	1	122	c.122C>T	c.(121-123)gCt>gTt	p.A41V	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	41					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ATCACTGCTGCTCTGGGCGTG	0.498																																																	0													240.0	216.0	224.0					7																	143140667		2203	4300	6503	SO:0001583	missense	0			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.122C>T	7.37:g.143140667C>T	ENSP00000327724:p.Ala41Val		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.A41V	ENST00000332690.1	37	c.122	CCDS5885.1	7	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.587120	0.00872	.	.	ENSG00000185899	ENST00000332690	T	0.33216	1.42	5.68	-1.28	0.09318	.	1.093040	0.07163	N	0.851052	T	0.09024	0.0223	N	0.03324	-0.35	0.09310	N	1	P	0.35551	0.509	B	0.31290	0.127	T	0.13335	-1.0513	10	0.02654	T	1	.	4.0512	0.09796	0.1608:0.4119:0.0:0.4273	.	41	P59551	T2R60_HUMAN	V	41	ENSP00000327724:A41V	ENSP00000327724:A41V	A	+	2	0	TAS2R60	142850789	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.459000	0.06728	-0.042000	0.13535	-0.290000	0.09829	GCT	TAS2R60	-	pfam_TAS2_rcpt	ENSG00000185899		0.498	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R60	HGNC	protein_coding	OTTHUMT00000337541.1	-	0.00	76	0	C			143140667	+1	tier1	-	no_errors	ENST00000332690	ensembl	human	known	74_37	missense	43.40	29	23	SNP	0.000	T
TBC1D23	55773	genome.wustl.edu	37	3	100039744	100039744	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:100039744A>C	ENST00000394144.4	+	18	1954	c.1947A>C	c.(1945-1947)aaA>aaC	p.K649N	TBC1D23_ENST00000344949.5_Missense_Mutation_p.K634N|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.K512N	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	649					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.?(2)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						CCAAAAAAAAACATCCTGAAC	0.338																																																	2	Unknown(2)	skin(2)											73.0	74.0	74.0					3																	100039744		2203	4300	6503	SO:0001583	missense	0			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1947A>C	3.37:g.100039744A>C	ENSP00000377700:p.Lys649Asn		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom	p.K649N	ENST00000394144.4	37	c.1947	CCDS56265.1	3	.	.	.	.	.	.	.	.	.	.	A	16.77	3.216137	0.58452	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.34859	1.34;1.34;1.37	5.25	1.6	0.23607	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.47716	1.5	0.58432	D	0.999999	D;D	0.67145	0.994;0.996	P;D	0.63793	0.829;0.918	T	0.20840	-1.0263	9	.	.	.	.	10.0527	0.42225	0.7244:0.0:0.2756:0.0	.	649;634	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	N	634;649;512	ENSP00000340693:K634N;ENSP00000377700:K649N;ENSP00000418059:K512N	.	K	+	3	2	TBC1D23	101522434	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.817000	0.27281	0.408000	0.25621	0.533000	0.62120	AAA	TBC1D23	-	NULL	ENSG00000036054		0.338	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1	-	0.00	41	0	A	NM_018309		100039744	+1	tier1	-	no_errors	ENST00000394144	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.999	C
TBC1D8	11138	genome.wustl.edu	37	2	101654942	101654942	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:101654942G>T	ENST00000376840.4	-	7	1210	c.1211C>A	c.(1210-1212)aCc>aAc	p.T404N	TBC1D8_ENST00000409318.1_Missense_Mutation_p.T419N			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	404					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						ATCCGCAGAGGTGTCGTAGTG	0.597																																																	0													165.0	169.0	168.0					2																	101654942		2141	4246	6387	SO:0001583	missense	0			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1211C>A	2.37:g.101654942G>T	ENSP00000366036:p.Thr404Asn		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.T419N	ENST00000376840.4	37	c.1256	CCDS46375.1	2	.	.	.	.	.	.	.	.	.	.	G	3.810	-0.039839	0.07497	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03094	4.05;4.05	5.03	1.71	0.24356	.	0.595751	0.15679	N	0.250015	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.45026	-0.9289	10	0.25751	T	0.34	-10.3837	8.2118	0.31488	0.0:0.3485:0.4089:0.2425	.	419;404	B7Z6L4;O95759	.;TBCD8_HUMAN	N	404;419	ENSP00000366036:T404N;ENSP00000386856:T419N	ENSP00000366036:T404N	T	-	2	0	TBC1D8	101021374	1.000000	0.71417	0.008000	0.14137	0.065000	0.16274	1.579000	0.36536	1.063000	0.40649	0.655000	0.94253	ACC	TBC1D8	-	NULL	ENSG00000204634		0.597	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D8	HGNC	protein_coding	OTTHUMT00000376092.1	-	0.00	37	0	G	NM_007063		101654942	-1	tier1	-	no_errors	ENST00000409318	ensembl	human	known	74_37	missense	56.25	14	18	SNP	0.000	T
TBX20	57057	genome.wustl.edu	37	7	35244122	35244122	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:35244122T>G	ENST00000408931.3	-	7	1489	c.963A>C	c.(961-963)gaA>gaC	p.E321D		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	321					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CCAAGACATCTTCTTCTCCTC	0.498																																																	0													80.0	76.0	77.0					7																	35244122		1941	4143	6084	SO:0001583	missense	0			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.963A>C	7.37:g.35244122T>G	ENSP00000386170:p.Glu321Asp		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.E321D	ENST00000408931.3	37	c.963	CCDS43568.1	7	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846406	0.32606	.	.	ENSG00000164532	ENST00000408931	D	0.88201	-2.35	5.51	-2.26	0.06867	.	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	N	0.24115	0.695	0.40941	D	0.984469	B	0.02656	0.0	B	0.04013	0.001	T	0.51332	-0.8719	10	0.11485	T	0.65	.	1.2405	0.01962	0.2462:0.3357:0.092:0.3262	.	321	Q9UMR3	TBX20_HUMAN	D	321	ENSP00000386170:E321D	ENSP00000386170:E321D	E	-	3	2	TBX20	35210647	0.995000	0.38212	0.859000	0.33776	0.994000	0.84299	0.432000	0.21461	-0.802000	0.04421	-0.285000	0.09966	GAA	TBX20	-	NULL	ENSG00000164532		0.498	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	-	0.00	71	0	T	NM_020417		35244122	-1	tier1	-	no_errors	ENST00000408931	ensembl	human	known	74_37	missense	51.85	26	28	SNP	0.981	G
TGOLN2	10618	genome.wustl.edu	37	2	85553696	85553696	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:85553696C>A	ENST00000409232.3	-	2	1220	c.1159G>T	c.(1159-1161)Gca>Tca	p.A387S	TGOLN2_ENST00000409015.1_Missense_Mutation_p.A387S|TGOLN2_ENST00000444342.2_Missense_Mutation_p.A387S|TGOLN2_ENST00000398263.2_Missense_Mutation_p.A329S|TGOLN2_ENST00000282120.2_Missense_Mutation_p.A231S|TGOLN2_ENST00000377386.3_Missense_Mutation_p.A387S			O43493	TGON2_HUMAN	trans-golgi network protein 2	387						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											ACCAGATATGCAAAGAAGTGG	0.552																																																	0													77.0	79.0	78.0					2																	85553696		1935	4141	6076	SO:0001583	missense	0			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1159G>T	2.37:g.85553696C>A	ENSP00000386443:p.Ala387Ser		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	NULL	p.A387S	ENST00000409232.3	37	c.1159	CCDS56126.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.535374	0.96460	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.15718	2.53;2.53;2.4;2.55;2.52;2.52	4.68	4.68	0.58851	.	.	.	.	.	T	0.37019	0.0988	L	0.59436	1.845	0.44275	D	0.997136	D;D;D;D	0.89917	0.992;0.999;1.0;1.0	D;D;D;D	0.91635	0.936;0.997;0.996;0.999	T	0.02654	-1.1128	9	0.34782	T	0.22	-22.5733	15.1379	0.72583	0.0:1.0:0.0:0.0	.	387;387;329;387	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	S	387;231;329;387;387;387	ENSP00000366603:A387S;ENSP00000282120:A231S;ENSP00000381312:A329S;ENSP00000386443:A387S;ENSP00000387035:A387S;ENSP00000391190:A387S	ENSP00000282120:A231S	A	-	1	0	TGOLN2	85407207	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.802000	0.75175	2.430000	0.82344	0.655000	0.94253	GCA	TGOLN2	-	NULL	ENSG00000152291		0.552	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TGOLN2	HGNC	protein_coding	OTTHUMT00000329045.2	-	0.00	41	0	C	NM_006464		85553696	-1	tier1	-	no_errors	ENST00000377386	ensembl	human	known	74_37	missense	42.11	11	8	SNP	1.000	A
THBD	7056	genome.wustl.edu	37	20	23028837	23028837	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:23028837G>T	ENST00000377103.2	-	1	1541	c.1305C>A	c.(1303-1305)gaC>gaA	p.D435E		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	435	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	AGATGAAACCGTCGTCCAGGA	0.617																																																	0													60.0	53.0	55.0					20																	23028837		2203	4300	6503	SO:0001583	missense	0				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1305C>A	20.37:g.23028837G>T	ENSP00000366307:p.Asp435Glu		Q8IV29|Q9UC32	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin	p.D435E	ENST00000377103.2	37	c.1305	CCDS13148.1	20	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.843485	0.00568	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.80653	-1.4	4.82	-7.69	0.01263	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Thrombomodulin-like, EGF-like (1);	0.673590	0.13166	N	0.408702	T	0.44993	0.1320	N	0.02379	-0.575	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	10	0.26408	T	0.33	-8.8188	2.4186	0.04442	0.1716:0.1341:0.3954:0.2989	.	435	P07204	TRBM_HUMAN	E	435;417	ENSP00000366307:D435E	ENSP00000366307:D435E	D	-	3	2	THBD	22976837	0.000000	0.05858	0.031000	0.17742	0.041000	0.13682	-5.200000	0.00142	-2.116000	0.00830	-2.329000	0.00250	GAC	THBD	-	pirsf_CD93/CD141,pfam_Tme5_EGF-like,smart_EG-like_dom	ENSG00000178726		0.617	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBD	HGNC	protein_coding	OTTHUMT00000078307.2	-	0.00	70	0	G			23028837	-1	tier1	-	no_errors	ENST00000377103	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.015	T
TIMELESS	8914	genome.wustl.edu	37	12	56817448	56817448	+	Silent	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:56817448C>T	ENST00000553532.1	-	17	2160	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	TIMELESS_ENST00000229201.4_Silent_p.E669E|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.E670E(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						cctcctcctcctcttcttctt	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	49.0	50.0					12																	56817448		2203	4300	6503	SO:0001819	synonymous_variant	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2010G>A	12.37:g.56817448C>T				Silent	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E670	ENST00000553532.1	37	c.2010	CCDS8918.1	12																																																																																			TIMELESS	-	NULL	ENSG00000111602		0.527	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	-	0.00	28	0	C	NM_003920		56817448	-1	tier1	-	no_errors	ENST00000553532	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.863	T
TMPRSS11B	132724	genome.wustl.edu	37	4	69100186	69100186	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:69100186A>G	ENST00000332644.5	-	5	625	c.464T>C	c.(463-465)cTc>cCc	p.L155P		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	155	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AATACCCATGAGTTTAATGGA	0.313																																																	0													95.0	94.0	94.0					4																	69100186		2203	4300	6503	SO:0001583	missense	0			BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.464T>C	4.37:g.69100186A>G	ENSP00000330475:p.Leu155Pro		A8K4D9	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L155P	ENST00000332644.5	37	c.464	CCDS3521.1	4	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986215	0.53934	.	.	ENSG00000185873	ENST00000332644	T	0.38722	1.12	5.16	5.16	0.70880	.	0.436398	0.16942	N	0.193226	T	0.58293	0.2112	L	0.61218	1.895	0.24550	N	0.994029	D	0.71674	0.998	D	0.63488	0.915	T	0.53315	-0.8456	10	0.72032	D	0.01	.	11.65	0.51284	1.0:0.0:0.0:0.0	.	155	Q86T26	TM11B_HUMAN	P	155	ENSP00000330475:L155P	ENSP00000330475:L155P	L	-	2	0	TMPRSS11B	68782781	0.010000	0.17322	0.012000	0.15200	0.091000	0.18340	2.640000	0.46579	2.075000	0.62263	0.533000	0.62120	CTC	TMPRSS11B	-	pirsf_Pept_S1A_HAT/DESC1	ENSG00000185873		0.313	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11B	HGNC	protein_coding	OTTHUMT00000251431.2	-	0.00	68	0	A	NM_182502		69100186	-1	tier1	-	no_errors	ENST00000332644	ensembl	human	known	74_37	missense	18.75	39	9	SNP	0.020	G
TMPRSS15	5651	genome.wustl.edu	37	21	19704467	19704467	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr21:19704467G>T	ENST00000284885.3	-	14	1621	c.1588C>A	c.(1588-1590)Ctg>Atg	p.L530M		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	530	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGCTCCCACAGCTCAAAAGGT	0.403																																																	0													129.0	128.0	128.0					21																	19704467		2203	4300	6503	SO:0001583	missense	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1588C>A	21.37:g.19704467G>T	ENSP00000284885:p.Leu530Met		Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.L530M	ENST00000284885.3	37	c.1588	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376270	0.61735	.	.	ENSG00000154646	ENST00000284885	T	0.20881	2.04	5.43	3.63	0.41609	CUB (5);	0.000000	0.64402	D	0.000005	T	0.48589	0.1508	M	0.86805	2.84	0.40867	D	0.983887	D	0.89917	1.0	D	0.91635	0.999	T	0.53136	-0.8481	9	.	.	.	.	10.5068	0.44839	0.1573:0.0:0.8427:0.0	.	530	P98073	ENTK_HUMAN	M	530	ENSP00000284885:L530M	.	L	-	1	2	TMPRSS15	18626338	0.998000	0.40836	0.819000	0.32651	0.930000	0.56654	1.004000	0.29822	0.780000	0.33566	0.650000	0.86243	CTG	TMPRSS15	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000154646		0.403	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	-	0.00	48	0	G	NM_002772		19704467	-1	tier1	-	no_errors	ENST00000284885	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.992	T
TNC	3371	genome.wustl.edu	37	9	117826297	117826297	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:117826297C>A	ENST00000350763.4	-	12	3949	c.3538G>T	c.(3538-3540)Gcc>Tcc	p.A1180S	TNC_ENST00000341037.4_Missense_Mutation_p.A1180S|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1180S|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1180	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGTTTGAGGGCATCCCAGCCC	0.522																																																	0													112.0	117.0	115.0					9																	117826297		2203	4300	6503	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3538G>T	9.37:g.117826297C>A	ENSP00000265131:p.Ala1180Ser		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.A1180S	ENST00000350763.4	37	c.3538	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	3.228	-0.158046	0.06544	.	.	ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613	T;T;T	0.47177	0.85;0.85;0.85	5.78	3.78	0.43462	Fibronectin, type III (4);	0.374296	0.25663	N	0.029133	T	0.26882	0.0658	N	0.16708	0.43	0.80722	D	1	B;B	0.19331	0.035;0.006	B;B	0.26864	0.074;0.026	T	0.08953	-1.0697	10	0.02654	T	1	.	9.9727	0.41763	0.2119:0.7122:0.0:0.0759	.	1180;1180	E9PC84;P24821	.;TENA_HUMAN	S	1180	ENSP00000265131:A1180S;ENSP00000339553:A1180S;ENSP00000411406:A1180S	ENSP00000339553:A1180S	A	-	1	0	TNC	116866118	0.673000	0.27539	1.000000	0.80357	0.968000	0.65278	0.362000	0.20284	1.443000	0.47586	0.655000	0.94253	GCC	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.522	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	-	0.00	33	0	C	NM_002160		117826297	-1	tier1	-	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	18.75	26	6	SNP	0.999	A
TNS1	7145	genome.wustl.edu	37	2	218678420	218678420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:218678420G>A	ENST00000171887.4	-	26	4989	c.4537C>T	c.(4537-4539)Cag>Tag	p.Q1513*	TNS1_ENST00000419504.1_Nonsense_Mutation_p.Q1500*|TNS1_ENST00000430930.1_Nonsense_Mutation_p.Q1492*	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1513	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTTTTATTCTGCTGCATGATG	0.592																																																	0													136.0	136.0	136.0					2																	218678420		2203	4300	6503	SO:0001587	stop_gained	0			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4537C>T	2.37:g.218678420G>A	ENSP00000171887:p.Gln1513*		Q4ZG71|Q6IPI5	Nonsense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Q1513*	ENST00000171887.4	37	c.4537	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	G	48	13.929793	0.99770	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	.	.	.	5.15	4.27	0.50696	.	0.070369	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	13.834	0.63398	0.0732:0.0:0.9268:0.0	.	.	.	.	X	1513;651;1500;1492	.	ENSP00000171887:Q1513X	Q	-	1	0	TNS1	218386665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.757000	0.85209	1.410000	0.46936	0.561000	0.74099	CAG	TNS1	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000079308		0.592	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2		0.00	55	0	G	NM_022648		218678420	-1			no_errors	ENST00000171887	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	A
TPH2	121278	genome.wustl.edu	37	12	72366400	72366400	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:72366400G>T	ENST00000333850.3	+	6	851	c.710G>T	c.(709-711)cGa>cTa	p.R237L		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	237					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.R237L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CATGCTTGCCGAGAGTATTTG	0.463																																																	1	Substitution - Missense(1)	lung(1)											288.0	295.0	293.0					12																	72366400		2203	4300	6503	SO:0001583	missense	0			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.710G>T	12.37:g.72366400G>T	ENSP00000329093:p.Arg237Leu		A6NGA4|Q14CB0	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.R237L	ENST00000333850.3	37	c.710	CCDS31859.1	12	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875850	0.72180	.	.	ENSG00000139287	ENST00000333850	D	0.99567	-6.18	5.48	3.67	0.42095	Aromatic amino acid hydroxylase, C-terminal (3);	0.166435	0.52532	D	0.000078	D	0.99208	0.9725	M	0.86343	2.81	0.53688	D	0.999971	B	0.29805	0.257	B	0.40038	0.317	D	0.99643	1.0989	10	0.62326	D	0.03	-7.8066	9.1108	0.36725	0.2214:0.0:0.7786:0.0	.	237	Q8IWU9	TPH2_HUMAN	L	237	ENSP00000329093:R237L	ENSP00000329093:R237L	R	+	2	0	TPH2	70652667	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	2.980000	0.49321	0.691000	0.31592	0.462000	0.41574	CGA	TPH2	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase	ENSG00000139287		0.463	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	HGNC	protein_coding	OTTHUMT00000405234.1	-	0.00	69	0	G	NM_173353		72366400	+1	tier1	-	no_errors	ENST00000333850	ensembl	human	known	74_37	missense	8.33	43	4	SNP	0.965	T
TPH2	121278	genome.wustl.edu	37	12	72388269	72388269	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:72388269A>C	ENST00000333850.3	+	8	1133	c.992A>C	c.(991-993)aAg>aCg	p.K331T		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	331					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.K331M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCGGATCCTAAGTTTGCTCAG	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											153.0	148.0	150.0					12																	72388269		2203	4300	6503	SO:0001583	missense	0			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.992A>C	12.37:g.72388269A>C	ENSP00000329093:p.Lys331Thr		A6NGA4|Q14CB0	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.K331T	ENST00000333850.3	37	c.992	CCDS31859.1	12	.	.	.	.	.	.	.	.	.	.	A	13.49	2.252871	0.39797	.	.	ENSG00000139287	ENST00000333850	D	0.99454	-5.92	5.91	5.91	0.95273	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	N	0.11064	0.09	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	D	0.95911	0.8923	10	0.22706	T	0.39	-19.856	16.3483	0.83171	1.0:0.0:0.0:0.0	.	331	Q8IWU9	TPH2_HUMAN	T	331	ENSP00000329093:K331T	ENSP00000329093:K331T	K	+	2	0	TPH2	70674536	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	4.572000	0.60886	2.254000	0.74563	0.533000	0.62120	AAG	TPH2	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase	ENSG00000139287		0.398	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	HGNC	protein_coding	OTTHUMT00000405234.1	-	0.00	104	0	A	NM_173353		72388269	+1	tier1	-	no_errors	ENST00000333850	ensembl	human	known	74_37	missense	35.94	41	23	SNP	1.000	C
TRIM6	117854	genome.wustl.edu	37	11	5626645	5626645	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:5626645C>T	ENST00000278302.5	+	4	738	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_Missense_Mutation_p.R25W|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R228W|TRIM6_ENST00000445329.1_Missense_Mutation_p.R25W|TRIM6_ENST00000380097.3_Missense_Mutation_p.R228W|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_Missense_Mutation_p.R25W|TRIM6_ENST00000380107.1_Missense_Mutation_p.R174W|TRIM6_ENST00000506134.1_Missense_Mutation_p.R25W	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	200					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGTGGAGCAACGGGAGCTGAA	0.488											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													91.0	94.0	93.0					11																	5626645		2201	4297	6498	SO:0001583	missense	0			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.598C>T	11.37:g.5626645C>T	ENSP00000278302:p.Arg200Trp	627	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R228W	ENST00000278302.5	37	c.682	CCDS31390.1	11	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379592	0.61845	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T;T	0.30448	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;1.53	4.87	3.96	0.45880	.	.	.	.	.	T	0.57373	0.2049	M	0.86028	2.79	0.23150	N	0.998211	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.917;0.949;0.999;0.998	T	0.49031	-0.8981	9	0.87932	D	0	.	9.7352	0.40384	0.0:0.9015:0.0:0.0985	.	25;174;228;228;200	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	W	200;25;25;174;228;25;107;25;25;228;228	ENSP00000278302:R200W;ENSP00000414108:R25W;ENSP00000427704:R25W;ENSP00000369450:R174W;ENSP00000369440:R228W;ENSP00000399215:R25W;ENSP00000421802:R25W;ENSP00000421079:R25W;ENSP00000346916:R228W	ENSP00000278302:R200W	R	+	1	2	TRIM34;TRIM6;TRIM6-TRIM34	5583221	0.022000	0.18835	0.986000	0.45419	0.775000	0.43874	0.218000	0.17622	1.380000	0.46344	0.655000	0.94253	CGG	TRIM6-TRIM34	-	NULL	ENSG00000258588		0.488	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	HGNC	protein_coding	OTTHUMT00000143376.2	-	0.00	60	0	C	NM_001003818		5626645	+1	tier1	-	no_errors	ENST00000354852	ensembl	human	known	74_37	missense	60.53	15	23	SNP	0.987	T
TRIOBP	11078	genome.wustl.edu	37	22	38151139	38151139	+	Missense_Mutation	SNP	G	G	A	rs376340052		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:38151139G>A	ENST00000406386.3	+	14	5774	c.5519G>A	c.(5518-5520)cGt>cAt	p.R1840H	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R127H|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R127H	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1840	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					ATCGACCTGCGTTCCTGCACG	0.627																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	73.0	53.0	60.0		5519,380,380	4.8	1.0	22		60	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TRIOBP	NM_001039141.2,NM_007032.5,NM_138632.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1840/2366,127/653,127/432	38151139	1,13005	2203	4300	6503	SO:0001583	missense	0			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.5519G>A	22.37:g.38151139G>A	ENSP00000384312:p.Arg1840His		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R1840H	ENST00000406386.3	37	c.5519	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215786	0.79352	0.0	1.16E-4	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000452519;ENST00000417857	D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	4.77	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.95341	0.8488	L	0.48642	1.525	0.41833	D	0.990086	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.95546	0.8616	9	0.49607	T	0.09	.	17.8134	0.88623	0.0:0.0:1.0:0.0	.	127;127;1840	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	H	1840;127;127;86;56;56	ENSP00000384312:R1840H;ENSP00000383913:R127H;ENSP00000386026:R127H;ENSP00000396946:R86H;ENSP00000407542:R56H;ENSP00000387881:R56H	ENSP00000386026:R127H	R	+	2	0	TRIOBP	36481085	0.999000	0.42202	0.992000	0.48379	0.985000	0.73830	3.263000	0.51546	2.182000	0.69389	0.655000	0.94253	CGT	TRIOBP	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000100106		0.627	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	-	0.00	27	0	G			38151139	+1	tier1	-	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	44.12	19	15	SNP	0.993	A
TRPS1	7227	genome.wustl.edu	37	8	116426999	116426999	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:116426999T>G	ENST00000220888.5	-	6	3257	c.3098A>C	c.(3097-3099)cAa>cCa	p.Q1033P	TRPS1_ENST00000519076.1_Missense_Mutation_p.Q787P|TRPS1_ENST00000395715.3_Missense_Mutation_p.Q1046P|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q1037P			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1033	Mediates interaction with RNF4. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTGCAAAGGTTGCATCCTTTT	0.448									Langer-Giedion syndrome																																								0													144.0	136.0	138.0					8																	116426999		1902	4120	6022	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3098A>C	8.37:g.116426999T>G	ENSP00000220888:p.Gln1033Pro		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.Q1046P	ENST00000220888.5	37	c.3137		8	.	.	.	.	.	.	.	.	.	.	T	6.727	0.502915	0.12822	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	D;D;D;D	0.98419	-4.92;-4.89;-4.87;-4.89	5.62	5.62	0.85841	.	0.061993	0.64402	D	0.000002	D	0.93713	0.7991	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	D	0.90387	0.4392	10	0.37606	T	0.19	.	15.8115	0.78568	0.0:0.0:0.0:1.0	.	1037;1033;1046	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	P	1046;1033;787;1037	ENSP00000379065:Q1046P;ENSP00000220888:Q1033P;ENSP00000428910:Q787P;ENSP00000428680:Q1037P	ENSP00000220888:Q1033P	Q	-	2	0	TRPS1	116496175	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.241000	0.72369	2.131000	0.65755	0.533000	0.62120	CAA	TRPS1	-	NULL	ENSG00000104447		0.448	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0.00	71	0	T	NM_014112		116426999	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	20.37	43	11	SNP	1.000	G
TSPY2	64591	genome.wustl.edu	37	Y	6114771	6114771	+	Silent	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrY:6114771C>T	ENST00000320701.4	+	1	508	c.462C>T	c.(460-462)agC>agT	p.S154S	TSPY2_ENST00000383042.1_Silent_p.S154S	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	154					cell differentiation (GO:0030154)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				liver(1)|lung(4)|prostate(1)|skin(1)	7						TCATCCAGAGCGTCCCTGGCT	0.592																																																	0																																										SO:0001819	synonymous_variant	0			AF106331	CCDS35465.1	Yp11.2	2010-05-12			ENSG00000168757	ENSG00000168757			23924	protein-coding gene	gene with protein product						10773691	Standard	NM_022573		Approved	TSPYQ1	uc004fqr.1	A6NKD2	OTTHUMG00000040957	ENST00000320701.4:c.462C>T	Y.37:g.6114771C>T				Silent	SNP	pfam_NAP_family	p.S154	ENST00000320701.4	37	c.462	CCDS35465.1	Y																																																																																			TSPY2	-	pfam_NAP_family	ENSG00000168757		0.592	TSPY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSPY2	HGNC	protein_coding	OTTHUMT00000098313.1	-	0.00	12	0	C	NM_022573		6114771	+1	tier1	-	no_errors	ENST00000320701	ensembl	human	known	74_37	silent	66.67	2	4	SNP	0.775	T
TTN	7273	genome.wustl.edu	37	2	179402367	179402367	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:179402367G>A	ENST00000591111.1	-	305	94868	c.94644C>T	c.(94642-94644)ctC>ctT	p.L31548L	TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Silent_p.L24316L|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.L24249L|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Silent_p.L33189L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.L30621L|TTN_ENST00000460472.2_Silent_p.L24124L|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31548	Ig-like 140.				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)			TTGCTTGCAGGAGAAGCTTAC	0.448																																																	0													83.0	85.0	84.0					2																	179402367		1933	4143	6076	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94644C>T	2.37:g.179402367G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L30621	ENST00000591111.1	37	c.91863		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	93	0	G	NM_133378		179402367	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	28.57	65	26	SNP	0.973	A
TTN	7273	genome.wustl.edu	37	2	179412266	179412266	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:179412266C>T	ENST00000591111.1	-	289	89388	c.89164G>A	c.(89164-89166)Gtc>Atc	p.V29722I	TTN_ENST00000342175.6_Missense_Mutation_p.V22490I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22423I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V31363I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28795I|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22298I|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29722	Fibronectin type-III 116. {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)			GTGCGCTTGACACTGGAATTG	0.413																																																	0													79.0	78.0	78.0					2																	179412266		1899	4113	6012	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89164G>A	2.37:g.179412266C>T	ENSP00000465570:p.Val29722Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V28795I	ENST00000591111.1	37	c.86383		2	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200812	0.38905	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.92	4.07	0.47477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45518	0.1346	L	0.45228	1.405	0.51767	D	0.999932	B;B;B;B	0.15719	0.002;0.002;0.002;0.014	B;B;B;B	0.17098	0.005;0.005;0.01;0.017	T	0.39210	-0.9625	9	0.87932	D	0	.	11.4504	0.50149	0.0:0.849:0.0:0.151	.	22298;22423;22490;29722	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	28795;22298;22490;22423;22295	ENSP00000343764:V28795I;ENSP00000434586:V22298I;ENSP00000340554:V22490I;ENSP00000352154:V22423I	ENSP00000340554:V22490I	V	-	1	0	TTN	179120512	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.059000	0.71133	0.779000	0.33543	-0.136000	0.14681	GTC	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	38	0	C	NM_133378		179412266	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179429645	179429645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:179429645C>A	ENST00000591111.1	-	276	76515	c.76291G>T	c.(76291-76293)Gaa>Taa	p.E25431*	TTN_ENST00000342175.6_Nonsense_Mutation_p.E18199*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E18132*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E27072*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E24504*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E18007*|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25431					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)			GGTCCAGGTTCTTTAAATGGA	0.413																																																	0													100.0	96.0	98.0					2																	179429645		1866	4102	5968	SO:0001587	stop_gained	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76291G>T	2.37:g.179429645C>A	ENSP00000465570:p.Glu25431*		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	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E24504*	ENST00000591111.1	37	c.73510		2	.	.	.	.	.	.	.	.	.	.	C	64	82.429846	0.99994	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.02	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1273	0.86717	0.0:0.7633:0.2366:0.0	.	.	.	.	X	24504;18007;18199;18132;18005	.	ENSP00000340554:E18199X	E	-	1	0	TTN	179137891	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.065000	0.57513	1.529000	0.49120	0.650000	0.86243	GAA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	59	0	C	NM_133378		179429645	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	20.00	32	8	SNP	0.966	A
TTN	7273	genome.wustl.edu	37	2	179472775	179472775	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:179472775T>G	ENST00000591111.1	-	226	48040	c.47816A>C	c.(47815-47817)gAc>gCc	p.D15939A	TTN_ENST00000342175.6_Missense_Mutation_p.D8707A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8640A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D17580A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15012A|TTN_ENST00000460472.2_Missense_Mutation_p.D8515A			Q8WZ42	TITIN_HUMAN	titin	15939	Fibronectin type-III 16. {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)			AGAGCTTGTGTCAGTGACTCT	0.423																																																	0													80.0	79.0	80.0					2																	179472775		1870	4101	5971	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47816A>C	2.37:g.179472775T>G	ENSP00000465570:p.Asp15939Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D15012A	ENST00000591111.1	37	c.45035		2	.	.	.	.	.	.	.	.	.	.	T	10.07	1.250790	0.22880	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46054	0.1373	L	0.31804	0.96	0.51233	D	0.999911	B;B;B;B	0.33171	0.248;0.248;0.248;0.4	B;B;B;B	0.34180	0.103;0.103;0.103;0.177	T	0.48305	-0.9047	9	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	8515;8640;8707;15939	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	15012;8515;8707;8640;8515	ENSP00000343764:D15012A;ENSP00000434586:D8515A;ENSP00000340554:D8707A;ENSP00000352154:D8640A	ENSP00000340554:D8707A	D	-	2	0	TTN	179181020	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.291000	0.51764	2.371000	0.80710	0.533000	0.62120	GAC	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	36	0	T	NM_133378		179472775	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	28.57	20	8	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179548772	179548772	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:179548772T>G	ENST00000591111.1	-	131	32033	c.31809A>C	c.(31807-31809)aaA>aaC	p.K10603N	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K10920N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K9676N|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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)			GTTTCAGAACTTTTTCTTCTG	0.368																																																	0													84.0	82.0	83.0					2																	179548772		1801	4070	5871	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31809A>C	2.37:g.179548772T>G	ENSP00000465570:p.Lys10603Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K9676N	ENST00000591111.1	37	c.29028		2	.	.	.	.	.	.	.	.	.	.	T	6.066	0.380518	0.11466	.	.	ENSG00000155657	ENST00000342992	T	0.70516	-0.49	5.06	0.0133	0.14095	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.68787	0.3039	L	0.48362	1.52	0.19300	N	0.999974	B	0.33299	0.407	B	0.43950	0.437	T	0.63928	-0.6526	9	0.87932	D	0	.	9.0768	0.36527	0.0:0.428:0.0:0.572	.	10603	Q8WZ42	TITIN_HUMAN	N	9676	ENSP00000343764:K9676N	ENSP00000343764:K9676N	K	-	3	2	TTN	179257017	0.038000	0.19896	0.051000	0.19133	0.314000	0.28054	0.091000	0.15046	-0.133000	0.11537	-0.400000	0.06385	AAA	TTN	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	108	0	T	NM_133378		179548772	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	20.91	87	23	SNP	0.093	G
TTN	7273	genome.wustl.edu	37	2	179614061	179614061	+	Intron	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:179614061G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.Q4356K|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			GCCTGACATTGTATGAATTCA	0.418																																																	0													88.0	94.0	92.0					2																	179614061		2203	4298	6501	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3789C>A	2.37:g.179614061G>T			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_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q4356K	ENST00000591111.1	37	c.13066		2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608721	0.46527	.	.	ENSG00000155657	ENST00000360870	T	0.57273	0.41	6.08	5.2	0.72013	.	.	.	.	.	T	0.40067	0.1102	N	0.19112	0.55	0.54753	D	0.99998	B	0.12013	0.005	B	0.12837	0.008	T	0.14420	-1.0473	9	0.36615	T	0.2	.	15.7516	0.77989	0.0:0.0:0.8622:0.1378	.	4356	Q8WZ42-6	.	K	4356	ENSP00000354117:Q4356K	ENSP00000354117:Q4356K	Q	-	1	0	TTN	179322306	0.294000	0.24380	0.008000	0.14137	0.004000	0.04260	2.171000	0.42453	1.565000	0.49641	0.655000	0.94253	CAA	TTN	-	NULL	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	48	0	G	NM_133378		179614061	-1	tier1	-	no_errors	ENST00000360870	ensembl	human	known	74_37	missense	23.73	45	14	SNP	0.060	T
TUBA3C	7278	genome.wustl.edu	37	13	19751310	19751310	+	Silent	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:19751310G>T	ENST00000400113.3	-	4	917	c.813C>A	c.(811-813)acC>acA	p.T271T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	271					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCGGGGCGTAGGTGGCCAGGG	0.607																																																	0													126.0	116.0	119.0					13																	19751310		2203	4300	6503	SO:0001819	synonymous_variant	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.813C>A	13.37:g.19751310G>T			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.T271	ENST00000400113.3	37	c.813	CCDS9284.1	13																																																																																			TUBA3C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom	ENSG00000198033		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	-	0.00	94	0	G	NM_006001		19751310	-1	tier1	-	no_errors	ENST00000400113	ensembl	human	known	74_37	silent	65.14	38	71	SNP	1.000	T
TXLNG	55787	genome.wustl.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																																	0																																										SO:0001589	frameshift_variant	0			AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs		Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	pfam_Taxilin_fam	p.R326fs	ENST00000380122.5	37	c.968_969	CCDS14178.1	X																																																																																			TXLNG	-	pfam_Taxilin_fam	ENSG00000086712		0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNG	HGNC	protein_coding	OTTHUMT00000055912.1		0.00	48	0	AG	NM_018360		16850850	+1	tier1		no_errors	ENST00000380122	ensembl	human	known	74_37	frame_shift_del	14.29	18	3	DEL	1.000:1.000	-
UHRF1BP1L	23074	genome.wustl.edu	37	12	100466569	100466569	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:100466569C>A	ENST00000279907.7	-	12	1642	c.1430G>T	c.(1429-1431)cGt>cTt	p.R477L	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R127L|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.R477L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	477										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GGGGGAAGAACGACATTGTTC	0.343																																																	0													81.0	87.0	85.0					12																	100466569		2203	4300	6503	SO:0001583	missense	0				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1430G>T	12.37:g.100466569C>A	ENSP00000279907:p.Arg477Leu		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.R477L	ENST00000279907.7	37	c.1430	CCDS31882.1	12	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781021	0.90282	.	.	ENSG00000111647	ENST00000279907;ENST00000545232;ENST00000356828;ENST00000548045;ENST00000551973;ENST00000550544	T;T;T;T	0.39592	2.82;2.78;1.46;1.07	5.76	4.88	0.63580	.	0.051315	0.85682	D	0.000000	T	0.55016	0.1894	M	0.69823	2.125	0.80722	D	1	P;P	0.51537	0.946;0.505	P;B	0.52109	0.69;0.157	T	0.61272	-0.7096	10	0.72032	D	0.01	-8.6684	14.578	0.68265	0.0:0.9301:0.0:0.0699	.	477;477	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	L	477;127;477;66;127;66	ENSP00000279907:R477L;ENSP00000444824:R127L;ENSP00000349285:R477L;ENSP00000448226:R127L	ENSP00000279907:R477L	R	-	2	0	UHRF1BP1L	98990700	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.904000	0.63279	1.442000	0.47568	0.591000	0.81541	CGT	UHRF1BP1L	-	NULL	ENSG00000111647		0.343	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1		0.00	79	0	C	NM_001006947		100466569	-1			no_errors	ENST00000279907	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A
ULK3	25989	genome.wustl.edu	37	15	75134697	75134697	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:75134697A>G	ENST00000440863.2	-	2	258	c.167T>C	c.(166-168)gTg>gCg	p.V56A	ULK3_ENST00000568667.1_Missense_Mutation_p.V67A|ULK3_ENST00000569437.1_Missense_Mutation_p.V56A	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GAGGTTCTCCACCGATGCCTT	0.542																																																	0													207.0	206.0	206.0					15																	75134697		2017	4170	6187	SO:0001583	missense	0			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.167T>C	15.37:g.75134697A>G	ENSP00000400312:p.Val56Ala		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_dom	p.V56A	ENST00000440863.2	37	c.167	CCDS45305.1	15	.	.	.	.	.	.	.	.	.	.	A	15.44	2.833116	0.50951	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.63580	-0.05	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.125415	0.53938	D	0.000041	T	0.47078	0.1426	N	0.20483	0.58	0.40923	D	0.984324	B;B;B	0.29232	0.238;0.03;0.228	B;B;B	0.27380	0.079;0.038;0.078	T	0.45745	-0.9240	10	0.29301	T	0.29	-14.4488	14.4989	0.67707	1.0:0.0:0.0:0.0	.	67;56;56	B4DFT0;Q6PHR2;Q6PHR2-3	.;ULK3_HUMAN;.	A	56;67	ENSP00000400312:V56A	ENSP00000393658:V67A	V	-	2	0	ULK3	72921750	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	5.075000	0.64407	2.020000	0.59435	0.533000	0.62120	GTG	ULK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000140474		0.542	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ULK3	HGNC	protein_coding	OTTHUMT00000421734.4	-	0.00	47	0	A	NM_015518		75134697	-1	tier1	-	no_errors	ENST00000440863	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	G
UNC80	285175	genome.wustl.edu	37	2	210704160	210704160	+	Splice_Site	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:210704160A>C	ENST00000439458.1	+	19	3336	c.3256A>C	c.(3256-3258)Agg>Cgg	p.R1086R	UNC80_ENST00000272845.6_Splice_Site_p.R1081R	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	1086					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CATAGGTAAAAGTATGTCTGT	0.468																																																	0													52.0	49.0	50.0					2																	210704160		692	1591	2283	SO:0001630	splice_region_variant	0			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.3256+1A>C	2.37:g.210704160A>C			B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Silent	SNP	NULL	p.R1086	ENST00000439458.1	37	c.3256	CCDS46504.1	2																																																																																			UNC80	-	NULL	ENSG00000144406		0.468	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		-	0.00	62	0	A	NM_182587	Silent	210704160	+1	tier1	-	no_errors	ENST00000439458	ensembl	human	known	74_37	silent	26.79	41	15	SNP	0.978	C
UPF3A	65110	genome.wustl.edu	37	13	115067491	115067491	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:115067491G>A	ENST00000375299.3	+	9	1349	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L	UPF3A_ENST00000351487.5_Silent_p.L398L|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	431	Required for association with EIF4A3 and ECJ core components CASC3, MAGOH and RBM8A.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		AAGAGCGACTGGCAAACAAGG	0.552																																																	0													22.0	29.0	26.0					13																	115067491		2162	4276	6438	SO:0001819	synonymous_variant	0			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.1293G>A	13.37:g.115067491G>A			A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	pfam_Nonsense_mediated_decay_UPF3	p.L431	ENST00000375299.3	37	c.1293	CCDS9543.1	13																																																																																			UPF3A	-	NULL	ENSG00000169062		0.552	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	HGNC	protein_coding	OTTHUMT00000045968.2	-	0.00	44	0	G			115067491	+1	tier1	-	no_errors	ENST00000375299	ensembl	human	known	74_37	silent	16.28	36	7	SNP	0.521	A
USP42	84132	genome.wustl.edu	37	7	6196639	6196639	+	Missense_Mutation	SNP	G	G	A	rs368427289		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:6196639G>A	ENST00000306177.5	+	16	4054	c.3896G>A	c.(3895-3897)cGg>cAg	p.R1299Q		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1299					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AAACACTTACGGATGGAAAGC	0.502																																																	0								G	GLN/ARG	0,3832		0,0,1916	36.0	37.0	37.0		3896	4.9	0.3	7		37	1,8237		0,1,4118	no	missense	USP42	NM_032172.2	43	0,1,6034	AA,AG,GG		0.0121,0.0,0.0083	benign	1299/1317	6196639	1,12069	1916	4119	6035	SO:0001583	missense	0			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.3896G>A	7.37:g.6196639G>A	ENSP00000301962:p.Arg1299Gln		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R1299Q	ENST00000306177.5	37	c.3896	CCDS47535.1	7	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169615	0.38315	0.0	1.21E-4	ENSG00000106346	ENST00000306177	T	0.19938	2.11	5.78	4.91	0.64330	.	0.108687	0.38164	N	0.001800	T	0.14917	0.0360	L	0.27053	0.805	0.09310	N	1	B;B;B	0.20164	0.042;0.015;0.009	B;B;B	0.17098	0.017;0.011;0.005	T	0.15925	-1.0420	10	0.52906	T	0.07	.	9.138	0.36886	0.1646:0.0:0.8354:0.0	.	1195;1299;1299	A4D2N7;Q9H9J4-2;Q9H9J4	.;.;UBP42_HUMAN	Q	1299	ENSP00000301962:R1299Q	ENSP00000301962:R1299Q	R	+	2	0	USP42	6163164	0.974000	0.33945	0.254000	0.24359	0.586000	0.36452	2.410000	0.44592	1.469000	0.48083	-0.137000	0.14449	CGG	USP42	-	NULL	ENSG00000106346		0.502	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3	-	0.00	58	0	G	XM_166526		6196639	+1	tier1	-	no_errors	ENST00000306177	ensembl	human	known	74_37	missense	34.04	31	16	SNP	0.199	A
VAT1L	57687	genome.wustl.edu	37	16	77918635	77918635	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:77918635T>G	ENST00000302536.2	+	7	1166	c.1013T>G	c.(1012-1014)cTc>cGc	p.L338R		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	338							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTGGAAAAACTCATAGGGCTC	0.493																																																	0													48.0	50.0	49.0					16																	77918635		2198	4300	6498	SO:0001583	missense	0			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1013T>G	16.37:g.77918635T>G	ENSP00000303129:p.Leu338Arg		Q8IYW8	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.L338R	ENST00000302536.2	37	c.1013	CCDS32492.1	16	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667981	0.88348	.	.	ENSG00000171724	ENST00000302536	T	0.11712	2.75	5.92	5.92	0.95590	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.01757	-1.1280	10	0.87932	D	0	-3.0E-4	16.0209	0.80493	0.0:0.0:0.0:1.0	.	338	Q9HCJ6	VAT1L_HUMAN	R	338	ENSP00000303129:L338R	ENSP00000303129:L338R	L	+	2	0	VAT1L	76476136	1.000000	0.71417	0.951000	0.38953	0.968000	0.65278	7.698000	0.84413	2.266000	0.75297	0.455000	0.32223	CTC	VAT1L	-	smart_PKS_ER	ENSG00000171724		0.493	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAT1L	HGNC	protein_coding	OTTHUMT00000434010.1	-	0.00	80	0	T	NM_020927		77918635	+1	tier1	-	no_errors	ENST00000302536	ensembl	human	known	74_37	missense	24.07	41	13	SNP	1.000	G
WASF2	10163	genome.wustl.edu	37	1	27736419	27736419	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:27736419G>T	ENST00000430629.2	-	8	1321	c.1106C>A	c.(1105-1107)cCa>cAa	p.P369Q	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	369	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGCTGGTGGTGGAGGAGGAGG	0.652																																																	0													81.0	83.0	83.0					1																	27736419		2203	4300	6503	SO:0001583	missense	0			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1106C>A	1.37:g.27736419G>T	ENSP00000396211:p.Pro369Gln		B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P369Q	ENST00000430629.2	37	c.1106	CCDS304.1	1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282335	0.40394	.	.	ENSG00000158195	ENST00000430629	T	0.54279	0.58	4.58	4.58	0.56647	.	0.511880	0.18937	N	0.127047	T	0.68476	0.3005	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63871	-0.6539	10	0.18710	T	0.47	-4.1412	16.9582	0.86265	0.0:0.0:1.0:0.0	.	369	Q9Y6W5	WASF2_HUMAN	Q	369	ENSP00000396211:P369Q	ENSP00000396211:P369Q	P	-	2	0	WASF2	27609006	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.747000	0.62141	2.095000	0.63458	0.551000	0.68910	CCA	WASF2	-	NULL	ENSG00000158195		0.652	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	HGNC	protein_coding	OTTHUMT00000009516.1		0.00	101	0	G	NM_006990		27736419	-1			no_errors	ENST00000430629	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
WASH6P	653440	genome.wustl.edu	37	X	155250630	155250630	+	RNA	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:155250630G>T	ENST00000461007.1	+	0	0				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										AAAAGCATGAGTGGGGTGATG	0.547																																																	0																																												0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155250630G>T			A6NGF1|Q8N305	RNA	SNP	-	NULL	ENST00000461007.1	37	NULL		X	.	.	.	.	.	.	.	.	.	.	g	7.583	0.669107	0.14776	.	.	ENSG00000182484	ENST00000359512	.	.	.	0.361	0.361	0.16107	.	.	.	.	.	T	0.40196	0.1107	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39396	-0.9616	4	0.87932	D	0	-4.2833	.	.	.	.	.	.	.	I	2	.	ENSP00000352498:S2I	S	+	2	0	WASH6P	154903824	0.029000	0.19370	0.022000	0.16811	0.145000	0.21501	1.206000	0.32321	0.405000	0.25532	0.149000	0.16113	AGT	WASH6P	-	-	ENSG00000182484		0.547	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	HGNC	pseudogene	OTTHUMT00000058840.1	-	0.00	180	0	G	NG_008380		155250630	+1	tier1	-	no_errors	ENST00000476066	ensembl	human	known	74_37	rna	26.89	87	32	SNP	0.022	T
WDR17	116966	genome.wustl.edu	37	4	177095823	177095823	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:177095823A>G	ENST00000280190.4	+	28	3676	c.3520A>G	c.(3520-3522)Aga>Gga	p.R1174G	WDR17_ENST00000507824.2_Missense_Mutation_p.R1149G|WDR17_ENST00000393643.2_Missense_Mutation_p.R1150G|WDR17_ENST00000508596.1_Missense_Mutation_p.R1135G			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1174										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ACTGGCTATCAGAAGACAGTA	0.343																																																	0													138.0	128.0	131.0					4																	177095823		2203	4300	6503	SO:0001583	missense	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3520A>G	4.37:g.177095823A>G	ENSP00000280190:p.Arg1174Gly		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R1174G	ENST00000280190.4	37	c.3520	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.26|12.26	1.886009|1.886009	0.33348|0.33348	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.52057	.|0.68;0.68;0.68	5.14|5.14	-1.67|-1.67	0.08238|0.08238	.|.	.|0.119515	.|0.56097	.|N	.|0.000032	T|T	0.31136|0.31136	0.0787|0.0787	L|L	0.39566|0.39566	1.225|1.225	0.38945|0.38945	D|D	0.958239|0.958239	.|B;B;B	.|0.09022	.|0.002;0.0;0.001	.|B;B;B	.|0.06405	.|0.002;0.001;0.002	T|T	0.04128|0.04128	-1.0975|-1.0975	5|10	.|0.52906	.|T	.|0.07	-1.6333|-1.6333	5.6532|5.6532	0.17629|0.17629	0.5244:0.2674:0.2083:0.0|0.5244:0.2674:0.2083:0.0	.|.	.|1150;1135;1174	.|E7EP77;E7EQX0;Q8IZU2	.|.;.;WDR17_HUMAN	R|G	408|1135;1150;1174;1150	.|ENSP00000422763:R1135G;ENSP00000377258:R1150G;ENSP00000280190:R1174G	.|ENSP00000280190:R1174G	Q|R	+|+	2|1	0|2	WDR17|WDR17	177332817|177332817	1.000000|1.000000	0.71417|0.71417	0.525000|0.525000	0.27900|0.27900	0.745000|0.745000	0.42441|0.42441	2.165000|2.165000	0.42396|0.42396	-0.181000|-0.181000	0.10619|0.10619	0.482000|0.482000	0.46254|0.46254	CAG|AGA	WDR17	-	NULL	ENSG00000150627		0.343	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0.00	119	0	A			177095823	+1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.980	G
WDR33	55339	genome.wustl.edu	37	2	128477228	128477228	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:128477228delG	ENST00000322313.4	-	16	2529	c.2371delC	c.(2371-2373)cggfs	p.R791fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	791					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGTTCTCCCGGGGGCCTGGA	0.617																																																	0													24.0	29.0	27.0					2																	128477228		2202	4297	6499	SO:0001589	frameshift_variant	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2371delC	2.37:g.128477228delG	ENSP00000325377:p.Arg791fs		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R791fs	ENST00000322313.4	37	c.2371	CCDS2150.1	2																																																																																			WDR33	-	NULL	ENSG00000136709		0.617	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2		0.00	41	0	G	NM_018383		128477228	-1	tier1		no_errors	ENST00000322313	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	1.000	-
WHSC1L1	54904	genome.wustl.edu	37	8	38187059	38187059	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:38187059G>T	ENST00000317025.8	-	6	1935	c.1418C>A	c.(1417-1419)gCg>gAg	p.A473E	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A473E|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A473E|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A473E	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	473					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.A473V(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCTTGCTGCCGCAGTTTTCCA	0.483			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	2	Substitution - Missense(2)	kidney(2)											101.0	100.0	100.0					8																	38187059		2203	4300	6503	SO:0001583	missense	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1418C>A	8.37:g.38187059G>T	ENSP00000313983:p.Ala473Glu		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.A473E	ENST00000317025.8	37	c.1418	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040090	0.93630	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	D;D;D;T	0.96856	-4.15;-4.08;-4.08;-0.96	5.76	5.76	0.90799	.	0.000000	0.47852	U	0.000202	D	0.97136	0.9064	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	0.998;0.997;1.0;0.998	P;D;D;P	0.79784	0.87;0.917;0.993;0.87	D	0.95008	0.8149	10	0.13108	T	0.6	.	19.9719	0.97287	0.0:0.0:1.0:0.0	.	473;473;473;473	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	E	473;473;410;473;473	ENSP00000393284:A473E;ENSP00000313983:A473E;ENSP00000434730:A473E;ENSP00000313410:A473E	ENSP00000313410:A473E	A	-	2	0	WHSC1L1	38306216	1.000000	0.71417	0.848000	0.33437	0.984000	0.73092	6.868000	0.75516	2.718000	0.92993	0.650000	0.86243	GCG	WHSC1L1	-	NULL	ENSG00000147548		0.483	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	-	0.00	100	0	G	NM_023034		38187059	-1	tier1	-	no_errors	ENST00000317025	ensembl	human	known	74_37	missense	6.19	91	6	SNP	1.000	T
XDH	7498	genome.wustl.edu	37	2	31598302	31598302	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:31598302A>C	ENST00000379416.3	-	15	1594	c.1546T>G	c.(1546-1548)Ttc>Gtc	p.F516V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	516				FFF -> LLL (in Ref. 3; AAA75287). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AACTTGAAGAAGAAGCTGAGG	0.597																																					Colon(66;682 1445 30109 40147)												0													98.0	97.0	98.0					2																	31598302		2203	4300	6503	SO:0001583	missense	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1546T>G	2.37:g.31598302A>C	ENSP00000368727:p.Phe516Val		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.F516V	ENST00000379416.3	37	c.1546	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	A	28.5	4.926717	0.92319	.	.	ENSG00000158125	ENST00000379416	T	0.28666	1.6	5.32	5.32	0.75619	Xanthine dehydrogenase, small subunit (1);CO dehydrogenase flavoprotein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69258	-0.5192	10	0.87932	D	0	.	14.9579	0.71131	1.0:0.0:0.0:0.0	.	516	P47989	XDH_HUMAN	V	516	ENSP00000368727:F516V	ENSP00000368727:F516V	F	-	1	0	XDH	31451806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	2.017000	0.59298	0.533000	0.62120	TTC	XDH	-	pfam_CO_DH_flav_C,superfamily_CO_DH_flav_C,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu	ENSG00000158125		0.597	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	-	0.00	47	0	A	NM_000379		31598302	-1	tier1	-	no_errors	ENST00000379416	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	C
XIRP1	165904	genome.wustl.edu	37	3	39229334	39229334	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:39229334G>A	ENST00000340369.3	-	2	1831	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	XIRP1_ENST00000396251.1_Missense_Mutation_p.R535W|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	535	Interaction with CTNNB1. {ECO:0000250}.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTGATGCCCCGCACCACGTCG	0.617																																																	0													64.0	62.0	63.0					3																	39229334		2203	4300	6503	SO:0001583	missense	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1603C>T	3.37:g.39229334G>A	ENSP00000343140:p.Arg535Trp		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.R535W	ENST00000340369.3	37	c.1603	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594110	0.66219	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.07327	3.2;3.57	5.17	4.28	0.50868	.	0.063724	0.64402	D	0.000009	T	0.24812	0.0602	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66979	0.948;0.927	T	0.01030	-1.1475	10	0.87932	D	0	.	13.0329	0.58854	0.0:0.0:0.8377:0.1623	.	535;535	Q702N8;Q702N8-2	XIRP1_HUMAN;.	W	535	ENSP00000379550:R535W;ENSP00000343140:R535W	ENSP00000343140:R535W	R	-	1	2	XIRP1	39204338	0.987000	0.35691	0.979000	0.43373	0.983000	0.72400	2.087000	0.41653	1.278000	0.44430	0.655000	0.94253	CGG	XIRP1	-	NULL	ENSG00000168334		0.617	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	-	0.00	68	0	G	XM_093522		39229334	-1	tier1	-	no_errors	ENST00000340369	ensembl	human	known	74_37	missense	20.00	40	10	SNP	0.994	A
XIST	7503	genome.wustl.edu	37	X	73062940	73062940	+	lincRNA	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:73062940A>C	ENST00000429829.1	-	0	9648					NR_001564.2				X inactive specific transcript (non-protein coding)																		CGCTTGCTTAACAAGGTCAGG	0.458																																																	0													54.0	52.0	53.0					X																	73062940		876	1991	2867			0			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73062940A>C				RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.458	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	-	0.00	25	0	A	NR_001564		73062940	-1	tier1	-	no_errors	ENST00000429829	ensembl	human	known	74_37	rna	19.35	24	6	SNP	0.003	C
XPC	7508	genome.wustl.edu	37	3	14187441	14187441	+	Nonstop_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:14187441T>C	ENST00000285021.7	-	16	3037	c.2823A>G	c.(2821-2823)tgA>tgG	p.*941W	AC093495.4_ENST00000420253.1_RNA|XPC_ENST00000449060.2_Nonstop_Mutation_p.*904W|RP11-434D12.1_ENST00000608606.1_Intron|RP11-434D12.1_ENST00000601399.1_Intron|AC093495.4_ENST00000428681.3_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	0					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGCGCTCAGCTCACAGCTGCT	0.597			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	0													61.0	68.0	66.0					3																	14187441		1906	4118	6024	SO:0001578	stop_lost	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2823A>G	3.37:g.14187441T>C	ENSP00000285021:p.*941Cysext*40		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Nonstop_Mutation	SNP	pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr	p.*941W	ENST00000285021.7	37	c.2823	CCDS46763.1	3	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694595	0.68386	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	.	.	.	5.09	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.21416	N	0.999696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0385	0.47816	0.1391:0.0:0.0:0.8609	.	.	.	.	W	941;904	.	.	X	-	3	0	XPC	14162442	1.000000	0.71417	0.987000	0.45799	0.622000	0.37654	4.339000	0.59322	2.037000	0.60232	0.377000	0.23210	TGA	XPC	-	NULL	ENSG00000154767		0.597	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XPC	HGNC	protein_coding	OTTHUMT00000340517.3	-	0.00	41	0	T	NM_004628		14187441	-1	tier1	-	no_errors	ENST00000285021	ensembl	human	known	74_37	nonstop	12.90	27	4	SNP	0.998	C
ZBTB20	26137	genome.wustl.edu	37	3	114057910	114057910	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:114057910T>G	ENST00000474710.1	-	5	2346	c.2168A>C	c.(2167-2169)aAg>aCg	p.K723T	ZBTB20_ENST00000357258.3_Missense_Mutation_p.K650T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.K650T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.K650T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.K650T|ZBTB20_ENST00000462705.1_Missense_Mutation_p.K650T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.K650T	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	723						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TTGGTCAAACTTTGCTGGGCA	0.557																																					NSCLC(69;748 1344 9802 11203 30933)												0													78.0	76.0	77.0					3																	114057910		2203	4300	6503	SO:0001583	missense	0			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2168A>C	3.37:g.114057910T>G	ENSP00000419153:p.Lys723Thr		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K723T	ENST00000474710.1	37	c.2168	CCDS54626.1	3	.	.	.	.	.	.	.	.	.	.	T	16.45	3.126356	0.56721	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.09911	2.95;2.95;2.95;2.95;2.93;2.95;2.95	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.100067	0.64402	D	0.000002	T	0.16685	0.0401	N	0.10972	0.075	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.34204	-0.9838	10	0.28530	T	0.3	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	723	Q9HC78	ZBT20_HUMAN	T	650;650;650;650;723;650;650	ENSP00000420324:K650T;ENSP00000377375:K650T;ENSP00000418092:K650T;ENSP00000419902:K650T;ENSP00000419153:K723T;ENSP00000349803:K650T;ENSP00000417307:K650T	ENSP00000349803:K650T	K	-	2	0	ZBTB20	115540600	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.103000	0.64578	2.371000	0.80710	0.533000	0.62120	AAG	ZBTB20	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181722		0.557	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	-	0.00	41	0	T	NM_015642		114057910	-1	tier1	-	no_errors	ENST00000474710	ensembl	human	known	74_37	missense	21.05	30	8	SNP	1.000	G
ZBTB7B	51043	genome.wustl.edu	37	1	154987712	154987712	+	Silent	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:154987712G>T	ENST00000368426.3	+	3	713	c.576G>T	c.(574-576)ccG>ccT	p.P192P	ZBTB7B_ENST00000535420.1_Silent_p.P192P|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Silent_p.P226P|ZBTB7B_ENST00000292176.2_Silent_p.P192P	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	192	Pro-rich.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P192P(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCGCCACCGCCACCTCGGC	0.657																																																	1	Substitution - coding silent(1)	lung(1)											33.0	36.0	35.0					1																	154987712		2200	4295	6495	SO:0001819	synonymous_variant	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.576G>T	1.37:g.154987712G>T			B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P226	ENST00000368426.3	37	c.678	CCDS1081.1	1																																																																																			ZBTB7B	-	NULL	ENSG00000160685		0.657	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1		0.00	49	0	G	NM_015872		154987712	+1			no_errors	ENST00000417934	ensembl	human	known	74_37	silent	8.11	34	3	SNP	0.046	T
ZC3H10	84872	genome.wustl.edu	37	12	56515093	56515093	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:56515093G>T	ENST00000257940.2	+	3	1023	c.747G>T	c.(745-747)aaG>aaT	p.K249N	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	249							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TGCTCAGGAAGCGGGTAGAGG	0.517																																																	0													73.0	73.0	73.0					12																	56515093		2203	4300	6503	SO:0001583	missense	0			BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.747G>T	12.37:g.56515093G>T	ENSP00000257940:p.Lys249Asn			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.K249N	ENST00000257940.2	37	c.747	CCDS8903.1	12	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693760	0.30052	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.13	3.27	0.37495	.	0.063153	0.64402	D	0.000010	T	0.36524	0.0970	N	0.19112	0.55	0.80722	D	1	D	0.60575	0.988	P	0.49140	0.601	T	0.19160	-1.0314	9	0.72032	D	0.01	-13.3228	6.9254	0.24412	0.3627:0.0:0.6373:0.0	.	249	Q96K80	ZC3HA_HUMAN	N	249	.	ENSP00000257940:K249N	K	+	3	2	ZC3H10	54801360	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.235000	0.43044	0.656000	0.30886	0.655000	0.94253	AAG	ZC3H10	-	NULL	ENSG00000135482		0.517	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H10	HGNC	protein_coding	OTTHUMT00000407826.1	-	0.00	47	0	G	NM_032786		56515093	+1	tier1	-	no_errors	ENST00000257940	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
ZFHX4	79776	genome.wustl.edu	37	8	77617713	77617713	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:77617713A>G	ENST00000521891.2	+	2	1838	c.1390A>G	c.(1390-1392)Agt>Ggt	p.S464G	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S464G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S464G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S464G|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	464					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)			CCCTGTCAAAAGTGAACCCAC	0.453										HNSCC(33;0.089)																																							0													71.0	72.0	71.0					8																	77617713		2002	4177	6179	SO:0001583	missense	0				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.1390A>G	8.37:g.77617713A>G	ENSP00000430497:p.Ser464Gly		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S464G	ENST00000521891.2	37	c.1390	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	2.408	-0.335969	0.05278	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51071	0.72;0.77;0.73;0.73	5.65	4.48	0.54585	.	0.000000	0.52532	U	0.000071	T	0.32285	0.0824	N	0.24115	0.695	0.49915	D	0.999837	P;P;P;P	0.40794	0.61;0.729;0.729;0.572	B;B;B;B	0.35770	0.104;0.21;0.21;0.106	T	0.08432	-1.0722	10	0.39692	T	0.17	.	13.0106	0.58729	0.8653:0.1347:0.0:0.0	.	464;464;464;464	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	G	464	ENSP00000430497:S464G;ENSP00000399605:S464G;ENSP00000050961:S464G;ENSP00000430848:S464G	ENSP00000050961:S464G	S	+	1	0	ZFHX4	77780268	1.000000	0.71417	0.977000	0.42913	0.432000	0.31715	3.532000	0.53553	1.124000	0.41980	0.533000	0.62120	AGT	ZFHX4	-	NULL	ENSG00000091656		0.453	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2		0.00	16	0	A	NM_024721		77617713	+1			no_errors	ENST00000521891	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	G
ZFP30	22835	genome.wustl.edu	37	19	38126486	38126486	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:38126486A>C	ENST00000351218.2	-	6	1513	c.956T>G	c.(955-957)cTt>cGt	p.L319R	ZFP30_ENST00000514101.2_Missense_Mutation_p.L319R|ZFP30_ENST00000392144.1_Missense_Mutation_p.L319R|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	319					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)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCAGTATGAAGTTTGTGATG	0.453																																																	0													94.0	91.0	92.0					19																	38126486		2203	4300	6503	SO:0001583	missense	0			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.956T>G	19.37:g.38126486A>C	ENSP00000343581:p.Leu319Arg		Q58EY8	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.L319R	ENST00000351218.2	37	c.956	CCDS33005.1	19	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590453	0.46214	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.18016	2.24;2.24;2.24	3.99	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31461	N	0.007609	T	0.24699	0.0599	N	0.26162	0.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02457	-1.1156	10	0.87932	D	0	.	7.2759	0.26283	0.8962:0.0:0.1038:0.0	.	319;319	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	R	319;319;319;234	ENSP00000343581:L319R;ENSP00000422930:L319R;ENSP00000375988:L319R	ENSP00000343581:L319R	L	-	2	0	ZFP30	42818326	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.900000	0.28431	1.803000	0.52742	0.533000	0.62120	CTT	ZFP30	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000120784		0.453	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP30	HGNC	protein_coding	OTTHUMT00000109601.2	-	0.00	64	0	A	NM_014898		38126486	-1	tier1	-	no_errors	ENST00000351218	ensembl	human	known	74_37	missense	27.78	39	15	SNP	0.930	C
ZFPM2	23414	genome.wustl.edu	37	8	106813335	106813335	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:106813335A>C	ENST00000407775.2	+	8	1275	c.1025A>C	c.(1024-1026)tAc>tCc	p.Y342S	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Y73S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Y210S|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Y210S|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	342					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTCTGTAGCTACACTGCTGAT	0.458																																																	0													199.0	192.0	194.0					8																	106813335		2012	4195	6207	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1025A>C	8.37:g.106813335A>C	ENSP00000384179:p.Tyr342Ser		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y342S	ENST00000407775.2	37	c.1025	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	A	14.85	2.659897	0.47572	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);	0.057548	0.64402	D	0.000001	T	0.43500	0.1250	L	0.52206	1.635	0.58432	D	0.999999	D	0.76494	0.999	P	0.56343	0.796	T	0.12863	-1.0531	10	0.27785	T	0.31	.	16.1988	0.82053	1.0:0.0:0.0:0.0	.	342	Q8WW38	FOG2_HUMAN	S	342;210;210;73	ENSP00000384179:Y342S;ENSP00000430757:Y210S;ENSP00000428720:Y210S;ENSP00000367733:Y73S	ENSP00000367733:Y73S	Y	+	2	0	ZFPM2	106882511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.947000	0.75959	2.284000	0.76573	0.528000	0.53228	TAC	ZFPM2	-	smart_Znf_C2H2-like	ENSG00000169946		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0.00	66	0	A			106813335	+1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	15.69	43	8	SNP	1.000	C
ZNF251	90987	genome.wustl.edu	37	8	145979173	145979174	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:145979173_145979174insA	ENST00000292562.7	-	4	446_447	c.171_172insT	c.(169-174)cctgtcfs	p.V58fs	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGCTTAGGGACAGGGAATCCTG	0.574																																																	0																																										SO:0001589	frameshift_variant	0			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.172dupT	8.37:g.145979174_145979174dupA	ENSP00000292562:p.Val58fs		Q2M219	Frame_Shift_Ins	INS	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.V57fs	ENST00000292562.7	37	c.172_171	CCDS47944.1	8																																																																																			ZNF251	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198169		0.574	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1		0.00	28	0	-	NM_138367		145979174	-1	tier1		no_errors	ENST00000292562	ensembl	human	known	74_37	frame_shift_ins	17.86	23	5	INS	0.159:0.156	A
ZNF486	90649	genome.wustl.edu	37	19	20308762	20308762	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:20308762T>C	ENST00000335117.8	+	4	1300	c.1243T>C	c.(1243-1245)Tat>Cat	p.Y415H	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TGGCAAAGCGTATACTACATC	0.403																																																	0													32.0	34.0	34.0					19																	20308762		2190	4288	6478	SO:0001583	missense	0			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.1243T>C	19.37:g.20308762T>C	ENSP00000335042:p.Tyr415His		Q0VG00	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.Y415H	ENST00000335117.8	37	c.1243	CCDS46029.1	19	.	.	.	.	.	.	.	.	.	.	-	7.975	0.749935	0.15778	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.17528	2.27	0.149	0.149	0.14863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23727	0.0574	L	0.52759	1.655	0.09310	N	1	D	0.55800	0.973	P	0.56163	0.793	T	0.11616	-1.0580	9	0.87932	D	0	.	4.6416	0.12552	0.0:4.0E-4:0.0:0.9996	.	415	Q96H40	ZN486_HUMAN	H	454;415	ENSP00000335042:Y415H	ENSP00000335042:Y415H	Y	+	1	0	ZNF486	20169762	0.989000	0.36119	0.280000	0.24747	0.280000	0.26924	2.864000	0.48404	0.166000	0.19597	0.164000	0.16699	TAT	ZNF486	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256229		0.403	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	-	0.00	55	0	T	NM_052852		20308762	+1	tier1	-	no_errors	ENST00000335117	ensembl	human	known	74_37	missense	36.36	35	20	SNP	0.039	C
ZNF681	148213	genome.wustl.edu	37	19	23927700	23927700	+	Silent	SNP	T	T	G			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:23927700T>G	ENST00000402377.3	-	4	793	c.652A>C	c.(652-654)Aga>Cga	p.R218R	ZNF681_ENST00000395385.3_Silent_p.R149R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	218					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATATGAATTCTTTTATGTTTA	0.313																																																	0													35.0	36.0	36.0					19																	23927700		2202	4294	6496	SO:0001819	synonymous_variant	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.652A>C	19.37:g.23927700T>G			B3KVF7	Silent	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.R218	ENST00000402377.3	37	c.652	CCDS12414.2	19																																																																																			ZNF681	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196172		0.313	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	-	0.00	92	0	T	NM_138286		23927700	-1	tier1	-	no_errors	ENST00000402377	ensembl	human	known	74_37	silent	32.94	57	28	SNP	0.100	G
ZNF578	147660	genome.wustl.edu	37	19	52960340	52960340	+	Intron	SNP	T	T	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:52960340T>A	ENST00000421239.2	+	2	123				ZNF578_ENST00000596382.1_3'UTR	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		cttgttacaatcttttgttgt	0.443																																																	0																																										SO:0001627	intron_variant	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.-122+129T>A	19.37:g.52960340T>A			B4DR51|I3L1Y6	RNA	SNP	-	NULL	ENST00000421239.2	37	NULL	CCDS54310.1	19																																																																																			ZNF578	-	-	ENSG00000258405		0.443	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	-	0.00	23	0	T	NM_152472		52960340	+1	tier1	-	no_errors	ENST00000596382	ensembl	human	known	74_37	rna	23.53	13	4	SNP	0.072	A
ZNF304	57343	genome.wustl.edu	37	19	57868215	57868215	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:57868215G>T	ENST00000282286.5	+	3	1151	c.978G>T	c.(976-978)caG>caT	p.Q326H	ZNF304_ENST00000443917.2_Missense_Mutation_p.Q373H|ZNF304_ENST00000598744.1_Missense_Mutation_p.Q284H|ZNF304_ENST00000391705.3_Missense_Mutation_p.Q326H			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	326					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(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TTCAGCATCAGAGAGTTCACA	0.458																																																	0													74.0	67.0	69.0					19																	57868215		2203	4300	6503	SO:0001583	missense	0			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.978G>T	19.37:g.57868215G>T	ENSP00000282286:p.Gln326His			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.Q326H	ENST00000282286.5	37	c.978	CCDS12950.1	19	.	.	.	.	.	.	.	.	.	.	g	12.62	1.993410	0.35131	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.54479	0.57;0.57;0.57	3.92	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52869	0.1761	M	0.86097	2.795	0.25188	N	0.990155	P;D	0.61080	0.798;0.989	B;B	0.42827	0.245;0.399	T	0.55029	-0.8204	9	0.52906	T	0.07	.	4.1436	0.10205	0.209:0.1957:0.5953:0.0	.	326;373	Q9HCX3;E7EQD3	ZN304_HUMAN;.	H	326;326;373	ENSP00000282286:Q326H;ENSP00000375586:Q326H;ENSP00000401642:Q373H	ENSP00000282286:Q326H	Q	+	3	2	ZNF304	62560027	0.020000	0.18652	0.615000	0.29064	0.991000	0.79684	1.786000	0.38694	1.243000	0.43853	0.580000	0.79431	CAG	ZNF304	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000131845		0.458	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF304	HGNC	protein_coding	OTTHUMT00000465785.1		0.00	59	0	G			57868215	+1			no_errors	ENST00000282286	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.993	T
ZNF746	155061	genome.wustl.edu	37	7	149190005	149190005	+	Nonsense_Mutation	SNP	G	G	T	rs534376643		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:149190005G>T	ENST00000340622.3	-	4	745	c.465C>A	c.(463-465)tgC>tgA	p.C155*	ZNF746_ENST00000458143.2_Nonsense_Mutation_p.C155*|ZNF746_ENST00000461958.2_Nonsense_Mutation_p.C155*			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	155	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGCGCCAGTTGCAGGGCTCCT	0.577																																																	0													77.0	67.0	70.0					7																	149190005		2203	4300	6503	SO:0001587	stop_gained	0			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.465C>A	7.37:g.149190005G>T	ENSP00000345140:p.Cys155*		A8K6Z9|Q6ZRF9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C155*	ENST00000340622.3	37	c.465	CCDS5897.1	7	.	.	.	.	.	.	.	.	.	.	.	37	6.392824	0.97529	.	.	ENSG00000181220	ENST00000340622;ENST00000458143;ENST00000461958	.	.	.	5.33	2.08	0.27032	.	0.000000	0.49916	D	0.000125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-20.4897	9.3459	0.38109	0.2854:0.0:0.7146:0.0	.	.	.	.	X	155;155;142	.	ENSP00000345140:C155X	C	-	3	2	ZNF746	148820938	0.000000	0.05858	0.962000	0.40283	0.944000	0.59088	-0.889000	0.04144	0.638000	0.30545	0.609000	0.83330	TGC	ZNF746	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000181220		0.577	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	-	0.00	132	0	G	NM_152557		149190005	-1	tier1	-	no_errors	ENST00000458143	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.891	T
ZNF831	128611	genome.wustl.edu	37	20	57767649	57767650	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:57767649_57767650insT	ENST00000371030.2	+	1	1575_1576	c.1575_1576insT	c.(1576-1578)tggfs	p.W526fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	526							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCGGGACCCCTGGTCCAGGAC	0.703																																																	0																																										SO:0001589	frameshift_variant	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1576dupT	20.37:g.57767650_57767650dupT	ENSP00000360069:p.Trp526fs		Q5TDR4|Q8TCP0	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.W525fs	ENST00000371030.2	37	c.1575_1576	CCDS42894.1	20																																																																																			ZNF831	-	NULL	ENSG00000124203		0.703	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2		0.00	12	0	-	NM_178457		57767650	+1	tier1		no_errors	ENST00000371030	ensembl	human	novel	74_37	frame_shift_ins	38.46	8	5	INS	0.000:0.000	T
ZNF90	7643	genome.wustl.edu	37	19	20191096	20191096	+	Intron	SNP	G	G	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:20191096G>T	ENST00000418063.2	+	1	115				ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						GTTATTAGATGTATTGTAGAC	0.483																																																	0																																										SO:0001627	intron_variant	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.3+2152G>T	19.37:g.20191096G>T			B9EH87	RNA	SNP	-	NULL	ENST00000418063.2	37	NULL	CCDS46028.1	19																																																																																			ZNF90	-	-	ENSG00000213988		0.483	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	-	0.00	31	0	G	NM_007138		20191096	+1	tier1	-	no_errors	ENST00000492328	ensembl	human	known	74_37	rna	13.79	25	4	SNP	1.000	T
ZNF99	7652	genome.wustl.edu	37	19	22940806	22940806	+	Silent	SNP	G	G	A			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:22940806G>A	ENST00000596209.1	-	4	1995	c.1905C>T	c.(1903-1905)acC>acT	p.T635T	ZNF99_ENST00000397104.3_Silent_p.T544T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	635					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T544T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTTTCTAAGGGTTGAGGACT	0.378																																																	1	Substitution - coding silent(1)	prostate(1)											37.0	39.0	38.0					19																	22940806		1989	4186	6175	SO:0001819	synonymous_variant	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1905C>T	19.37:g.22940806G>A			M0R335	Silent	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.T544	ENST00000596209.1	37	c.1632	CCDS59369.1	19																																																																																			ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1		0.00	64	0	G	XM_065124		22940806	-1			no_errors	ENST00000397104	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.112	A
ZP3	7784	genome.wustl.edu	37	7	76069838	76069838	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:76069838A>T	ENST00000394857.3	+	7	1028	c.970A>T	c.(970-972)Aaa>Taa	p.K324*	ZP3_ENST00000336517.4_Nonsense_Mutation_p.K273*|ZP3_ENST00000416245.1_Nonsense_Mutation_p.K148*|ZP3_ENST00000467555.1_3'UTR	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	324					binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ATGCTGTAACAAAGGTGACTG	0.527																																																	0													97.0	101.0	99.0					7																	76069838		2203	4300	6503	SO:0001587	stop_gained	0			M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.970A>T	7.37:g.76069838A>T	ENSP00000378326:p.Lys324*		Q06633|Q29RW0	Nonsense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.K324*	ENST00000394857.3	37	c.970	CCDS47618.1	7	.	.	.	.	.	.	.	.	.	.	a	18.09	3.545854	0.65198	.	.	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121;ENST00000416245	.	.	.	4.96	-2.17	0.07059	.	0.317042	0.32357	U	0.006208	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.2314	1.0105	0.01496	0.4377:0.1526:0.2621:0.1475	.	.	.	.	X	273;324;324;148	.	ENSP00000337310:K273X	K	+	1	0	ZP3	75907774	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.336000	0.19823	-0.554000	0.06150	0.459000	0.35465	AAA	ZP3	-	NULL	ENSG00000188372		0.527	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP3	HGNC	protein_coding	OTTHUMT00000253004.1	-	0.00	88	0	A			76069838	+1	tier1	-	no_errors	ENST00000394857	ensembl	human	known	74_37	nonsense	16.00	63	12	SNP	0.000	T
