#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
ABCF1	23	genome.wustl.edu	37	6	30545853	30545854	+	Splice_Site	INS	-	-	A	rs555740367		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:30545853_30545854insA	ENST00000326195.8	+	4	329_330	c.217_218insA	c.(217-219)caa>cAaa	p.Q73fs	ABCF1_ENST00000376545.3_Splice_Site_p.Q73fs|ABCF1_ENST00000396515.4_Splice_Site_p.Q73fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	73					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTCTCAGCAGCAAAAAAAAAAG	0.495																																																	0																																										SO:0001630	splice_region_variant	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.217-1->A	6.37:g.30545863_30545863dupA			A2BF75|O14897|Q69YP6	Frame_Shift_Ins	INS	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K77fs	ENST00000326195.8	37	c.217_218	CCDS34380.1	6																																																																																			ABCF1	-	NULL	ENSG00000204574		0.495	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3		0.00	23	0	-		Frame_Shift_Ins	30545854	+1	tier1		no_errors	ENST00000326195	ensembl	human	known	74_37	frame_shift_ins	11.54	23	3	INS	1.000:1.000	A
ABI3BP	25890	genome.wustl.edu	37	3	100541483	100541483	+	Intron	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:100541483C>T	ENST00000284322.5	-	19	1707				ABI3BP_ENST00000495063.1_Missense_Mutation_p.R866H|ABI3BP_ENST00000471714.1_Missense_Mutation_p.R953H|ABI3BP_ENST00000383691.4_Missense_Mutation_p.R230H	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTTCTGAGACGTGGACGACG	0.458																																																	0																																										SO:0001627	intron_variant	0			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1598-14404G>A	3.37:g.100541483C>T			B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R230H	ENST00000284322.5	37	c.689	CCDS46880.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.29|12.29	1.892755|1.892755	0.33442|0.33442	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000383692;ENST00000383691;ENST00000495063|ENST00000495591;ENST00000471901	T;T;T|.	0.23754|.	1.89;1.89;1.89|.	3.65|3.65	-2.98|-2.98	0.05513|0.05513	.|.	.|.	.|.	.|.	.|.	T|T	0.21347|0.21347	0.0514|0.0514	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.09022|.	0.001;0.002;0.001;0.001|.	B;B;B;B|.	0.04013|.	0.001;0.001;0.001;0.001|.	T|T	0.28964|0.28964	-1.0027|-1.0027	8|4	0.46703|.	T|.	0.11|.	.|.	4.547|4.547	0.12085|0.12085	0.1658:0.2865:0.0:0.5477|0.1658:0.2865:0.0:0.5477	.|.	230;866;953;200|.	B4DSV9;Q5JPC9;D3YTG3;D3YTD6|.	.;.;.;.|.	H|I	953;200;230;866|332;76	ENSP00000420524:R953H;ENSP00000373189:R230H;ENSP00000433993:R866H|.	ENSP00000373189:R230H|.	R|V	-|-	2|1	0|0	ABI3BP|ABI3BP	102024173|102024173	0.121000|0.121000	0.22262|0.22262	0.820000|0.820000	0.32676|0.32676	0.938000|0.938000	0.57974|0.57974	-2.085000|-2.085000	0.01362|0.01362	-0.698000|-0.698000	0.05085|0.05085	0.591000|0.591000	0.81541|0.81541	CGT|GTC	ABI3BP	-	NULL	ENSG00000154175		0.458	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	-	0.00	100	0	C			100541483	-1	tier1	-	no_errors	ENST00000383691	ensembl	human	known	74_37	missense	31.97	83	39	SNP	0.814	T
ACAT1	38	genome.wustl.edu	37	11	108018099	108018099	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:108018099G>A	ENST00000265838.4	+	12	1357	c.1266G>A	c.(1264-1266)atG>atA	p.M422I		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	422					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	CTTCTGCCATGCTAATTCAGA	0.473																																																	0													139.0	123.0	129.0					11																	108018099		2201	4298	6499	SO:0001583	missense	0			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1266G>A	11.37:g.108018099G>A	ENSP00000265838:p.Met422Ile		B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.M422I	ENST00000265838.4	37	c.1266	CCDS8339.1	11	.	.	.	.	.	.	.	.	.	.	G	1.974	-0.435863	0.04636	.	.	ENSG00000075239	ENST00000265838	D	0.92149	-2.98	5.57	-0.9	0.10544	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.921636	0.09563	N	0.785245	T	0.70988	0.3287	N	0.02420	-0.555	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.66654	-0.5869	10	0.02654	T	1	-12.2986	0.2342	0.00184	0.3389:0.2294:0.2017:0.23	.	422	P24752	THIL_HUMAN	I	422	ENSP00000265838:M422I	ENSP00000265838:M422I	M	+	3	0	ACAT1	107523309	0.358000	0.24947	0.323000	0.25347	0.914000	0.54420	-0.282000	0.08445	-0.106000	0.12110	0.655000	0.94253	ATG	ACAT1	-	pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000075239		0.473	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	HGNC	protein_coding	OTTHUMT00000389474.1		0.00	47	0	G	NM_000019		108018099	+1			no_errors	ENST00000265838	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.592	A
ACSM1	116285	genome.wustl.edu	37	16	20682982	20682982	+	Missense_Mutation	SNP	G	G	A	rs146437386		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:20682982G>A	ENST00000307493.4	-	4	690	c.623C>T	c.(622-624)cCa>cTa	p.P208L	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.P208L	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	208					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.P208Q(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGTGTGTTCTGGGGATGCTGA	0.468																																																	1	Substitution - Missense(1)	skin(1)											126.0	110.0	116.0					16																	20682982		2201	4300	6501	SO:0001583	missense	0			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.623C>T	16.37:g.20682982G>A	ENSP00000301956:p.Pro208Leu		Q08AH2|Q96A20	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.P208L	ENST00000307493.4	37	c.623	CCDS10587.1	16	.	.	.	.	.	.	.	.	.	.	G	3.904	-0.021369	0.07634	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.39787	1.06;1.06	5.19	2.0	0.26442	AMP-dependent synthetase/ligase (1);	0.178051	0.27640	N	0.018465	T	0.37376	0.1001	L	0.59436	1.845	0.09310	N	0.999993	P	0.42518	0.782	B	0.39503	0.301	T	0.22661	-1.0210	10	0.29301	T	0.29	.	12.8316	0.57748	0.0:0.0:0.5808:0.4192	.	208	Q08AH1	ACSM1_HUMAN	L	208	ENSP00000301956:P208L;ENSP00000428047:P208L	ENSP00000301956:P208L	P	-	2	0	ACSM1	20590483	0.867000	0.29959	0.070000	0.20053	0.086000	0.17979	2.302000	0.43637	0.748000	0.32831	-0.182000	0.12963	CCA	ACSM1	-	pfam_AMP-dep_Synth/Lig	ENSG00000166743		0.468	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM1	HGNC	protein_coding	OTTHUMT00000254412.1		0.00	45	0	G	NM_052956		20682982	-1			no_errors	ENST00000307493	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.010	A
ACTL9	284382	genome.wustl.edu	37	19	8808742	8808742	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:8808742C>T	ENST00000324436.3	-	1	430	c.310G>A	c.(310-312)Gtg>Atg	p.V104M		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	104						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TCTGGGAGCACGCGGGCTGCC	0.697																																																	0													18.0	21.0	20.0					19																	8808742		2199	4298	6497	SO:0001583	missense	0				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.310G>A	19.37:g.8808742C>T	ENSP00000316674:p.Val104Met		A8K893|Q6X960	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.V104M	ENST00000324436.3	37	c.310	CCDS12207.1	19	.	.	.	.	.	.	.	.	.	.	C	1.334	-0.595942	0.03771	.	.	ENSG00000181786	ENST00000324436	D	0.94576	-3.46	3.47	-6.94	0.01633	.	14.077800	0.00166	U	0.000003	D	0.84960	0.5588	N	0.12637	0.245	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.73248	-0.4043	10	0.87932	D	0	.	0.7649	0.01013	0.3308:0.303:0.1053:0.2609	.	104	Q8TC94	ACTL9_HUMAN	M	104	ENSP00000316674:V104M	ENSP00000316674:V104M	V	-	1	0	ACTL9	8669742	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.125000	0.10579	-1.720000	0.01380	-0.448000	0.05591	GTG	ACTL9	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000181786		0.697	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL9	HGNC	protein_coding	OTTHUMT00000459953.1	-	0.00	29	0	C	NM_178525		8808742	-1	tier1	-	no_errors	ENST00000324436	ensembl	human	known	74_37	missense	75.00	7	21	SNP	0.000	T
ADAM7	8756	genome.wustl.edu	37	8	24348310	24348310	+	Splice_Site	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:24348310A>G	ENST00000175238.6	+	13	1349		c.e13-1		RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Splice_Site|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Splice_Site	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGTTATTGCCAGGAGTGTACT	0.398																																																	0													210.0	198.0	202.0					8																	24348310		2203	4300	6503	SO:0001630	splice_region_variant	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1267-1A>G	8.37:g.24348310A>G			A8K8X7|O75959|Q6PEJ6	Splice_Site	SNP	-	e13-2	ENST00000175238.6	37	c.1267-2	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	A	19.39	3.817997	0.71028	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1241	0.65208	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM7	24404200	1.000000	0.71417	0.997000	0.53966	0.893000	0.52053	7.320000	0.79064	2.279000	0.76181	0.533000	0.62120	.	ADAM7	-	-	ENSG00000069206		0.398	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1		0.00	66	0	A	NM_003817	Intron	24348310	+1			no_errors	ENST00000175238	ensembl	human	known	74_37	splice_site	7.14	26	2	SNP	0.999	G
ADAMTS1	9510	genome.wustl.edu	37	21	28210407	28210407	+	Silent	SNP	A	A	G	rs148288841		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr21:28210407A>G	ENST00000284984.3	-	9	2849	c.2395T>C	c.(2395-2397)Ttg>Ctg	p.L799L		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	799	Spacer.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CTGTACCTCAAGACAACACCT	0.473																																																	0								A		1,4405	2.1+/-5.4	0,1,2202	71.0	62.0	65.0		2395	-0.9	0.3	21	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous	ADAMTS1	NM_006988.3		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		799/968	28210407	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2395T>C	21.37:g.28210407A>G			D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.L799	ENST00000284984.3	37	c.2395	CCDS33524.1	21																																																																																			ADAMTS1	-	pfam_ADAM_spacer1	ENSG00000154734		0.473	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	-	0.00	37	0	A			28210407	-1	tier1	rs148288841	no_errors	ENST00000284984	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.904	G
ADAMTS9	56999	genome.wustl.edu	37	3	64589620	64589620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:64589620C>T	ENST00000498707.1	-	25	4067	c.3725G>A	c.(3724-3726)tGg>tAg	p.W1242*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.W1214*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1242	TSP type-1 8. {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)		CAAGGCCTTCCATTGCCCACA	0.557																																																	0													122.0	125.0	124.0					3																	64589620		2203	4300	6503	SO:0001587	stop_gained	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.3725G>A	3.37:g.64589620C>T	ENSP00000418735:p.Trp1242*		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Nonsense_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.W1242*	ENST00000498707.1	37	c.3725	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.576722|6.576722	0.97676|0.97676	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|.	.|.	.|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47192|.	0.1432|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34477|.	-0.9827|.	4|.	.|0.02654	.|T	.|1	.|.	18.9748|18.9748	0.92731|0.92731	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	298|1214;1242	.|.	.|ENSP00000295903:W1214X	G|W	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64564660|64564660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.320000|7.320000	0.79064|0.79064	2.721000|2.721000	0.93114|0.93114	0.650000|0.650000	0.86243|0.86243	GGA|TGG	ADAMTS9	-	smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.557	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1		0.00	55	0	C			64589620	-1			no_errors	ENST00000498707	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T
ADCY10	55811	genome.wustl.edu	37	1	167815044	167815044	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:167815044C>T	ENST00000367851.4	-	21	2948	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	ADCY10_ENST00000367848.1_Missense_Mutation_p.E830K|ADCY10_ENST00000545172.1_Missense_Mutation_p.E769K	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	922					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTGTGGCACTCGATCACCTCA	0.512																																																	0													114.0	103.0	107.0					1																	167815044		2203	4300	6503	SO:0001583	missense	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2764G>A	1.37:g.167815044C>T	ENSP00000356825:p.Glu922Lys		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.E922K	ENST00000367851.4	37	c.2764	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	C	5.305	0.241628	0.10077	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.29655	1.56;1.56;1.56	5.96	0.185	0.15096	.	0.308537	0.28021	N	0.016912	T	0.07548	0.0190	L	0.31294	0.92	0.32029	N	0.599757	B;B;B	0.27971	0.196;0.196;0.07	B;B;B	0.15052	0.012;0.012;0.005	T	0.22068	-1.0227	9	0.27785	T	0.31	-10.9562	11.6569	0.51324	0.0:0.4322:0.4932:0.0746	.	769;830;922	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	K	769;922;830	ENSP00000441992:E769K;ENSP00000356825:E922K;ENSP00000356822:E830K	ENSP00000356822:E830K	E	-	1	0	ADCY10	166081668	0.118000	0.22208	0.210000	0.23637	0.008000	0.06430	0.228000	0.17814	0.105000	0.17753	-0.137000	0.14449	GAG	ADCY10	-	pirsf_Adenylate_cylcase_typ10	ENSG00000143199		0.512	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	-	0.00	22	0	C	NM_018417		167815044	-1	tier1	-	no_errors	ENST00000367851	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.035	T
ADH1B	125	genome.wustl.edu	37	4	100232043	100232043	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:100232043C>T	ENST00000305046.8	-	8	1049	c.982G>A	c.(982-984)Ggt>Agt	p.G328S	ADH1B_ENST00000394887.3_Missense_Mutation_p.G288S			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	328					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TTTGGGATACCTTCTTTACTC	0.333																																																	0													119.0	122.0	121.0					4																	100232043		2203	4299	6502	SO:0001583	missense	0			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.982G>A	4.37:g.100232043C>T	ENSP00000306606:p.Gly328Ser		A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.G328S	ENST00000305046.8	37	c.982	CCDS34033.1	4	.	.	.	.	.	.	.	.	.	.	C	0	-2.618416	0.00118	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.05025	3.51;3.51	3.66	-1.05	0.10036	GroES-like (1);Alcohol dehydrogenase, C-terminal (1);	1.119760	0.06588	N	0.751566	T	0.01730	0.0055	N	0.00335	-1.625	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.42327	-0.9458	10	0.02654	T	1	-0.1345	13.7798	0.63077	0.377:0.623:0.0:0.0	.	315;288;328	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	S	328;288;315	ENSP00000306606:G328S;ENSP00000378351:G288S	ENSP00000306606:G328S	G	-	1	0	ADH1B	100451066	0.000000	0.05858	0.111000	0.21465	0.012000	0.07955	-0.321000	0.08018	-0.014000	0.14175	-0.397000	0.06425	GGT	ADH1B	-	pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	ENSG00000196616		0.333	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH1B	HGNC	protein_coding	OTTHUMT00000364853.1	-	0.00	73	0	C	NM_000668		100232043	-1	tier1	-	no_errors	ENST00000305046	ensembl	human	known	74_37	missense	56.67	13	17	SNP	0.001	T
ADRA2A	150	genome.wustl.edu	37	10	112838072	112838072	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:112838072G>A	ENST00000280155.2	+	1	1283	c.318G>A	c.(316-318)ctG>ctA	p.L106L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	91					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTTCTCGCTGGCCAACGAGG	0.622																																					Esophageal Squamous(173;605 2658 7278 49362)												0													84.0	70.0	75.0					10																	112838072		2203	4300	6503	SO:0001819	synonymous_variant	0			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.318G>A	10.37:g.112838072G>A			B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt	p.L106	ENST00000280155.2	37	c.318	CCDS7569.2	10																																																																																			ADRA2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADR_fam	ENSG00000150594		0.622	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2	-	0.00	45	0	G	NM_000681		112838072	+1	tier1	-	no_errors	ENST00000280155	ensembl	human	known	74_37	silent	59.57	19	28	SNP	1.000	A
AFAP1	60312	genome.wustl.edu	37	4	7780445	7780445	+	Intron	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:7780445G>A	ENST00000360265.4	-	12	1880				AFAP1_ENST00000382543.3_Intron|AFAP1_ENST00000420658.1_Intron|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000358461.2_Intron|AFAP1_ENST00000513842.1_Intron			Q8N556	AFAP1_HUMAN	actin filament associated protein 1							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GCTCCACCAAGTGCACTTGAA	0.582																																																	0													64.0	58.0	60.0					4																	7780445		2203	4300	6503	SO:0001627	intron_variant	0			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1645+43C>T	4.37:g.7780445G>A			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	RNA	SNP	-	NULL	ENST00000360265.4	37	NULL	CCDS3397.1	4																																																																																			AFAP1-AS1	-	-	ENSG00000272620		0.582	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1-AS1	HGNC	protein_coding	OTTHUMT00000246842.2	-	0.00	33	0	G	NM_021638		7780445	+1	tier1	-	no_errors	ENST00000608442	ensembl	human	known	74_37	rna	38.71	19	12	SNP	0.000	A
AHRR	57491	genome.wustl.edu	37	5	434629	434629	+	Missense_Mutation	SNP	C	C	T	rs370481942		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:434629C>T	ENST00000505113.1	+	11	1830	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	AHRR_ENST00000512529.1_Missense_Mutation_p.R442W|AHRR_ENST00000506456.1_Missense_Mutation_p.R452W|AHRR_ENST00000316418.5_Missense_Mutation_p.R614W	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	596	Needed for transcriptional repression. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCACGGCGTGCGGGGGGCTCA	0.662																																																	0								C	TRP/ARG,TRP/ARG	0,4178		0,0,2089	21.0	25.0	24.0		1786,1840	0.6	0.0	5		24	1,8425		0,1,4212	no	missense,missense	AHRR	NM_001242412.1,NM_020731.4	101,101	0,1,6301	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging,probably-damaging	596/702,614/720	434629	1,12603	2089	4213	6302	SO:0001583	missense	0			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1786C>T	5.37:g.434629C>T	ENSP00000424601:p.Arg596Trp		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.R614W	ENST00000505113.1	37	c.1840	CCDS56355.1	5	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695604	0.30052	0.0	1.19E-4	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.22743	2.27;2.26;1.94;1.94	4.03	0.645	0.17782	.	1.348380	0.04746	N	0.423775	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	D;P;D	0.60575	0.988;0.937;0.963	B;B;P	0.46975	0.436;0.332;0.533	T	0.13737	-1.0498	10	0.72032	D	0.01	.	4.0979	0.10000	0.0:0.4318:0.2304:0.3377	.	452;596;614	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	W	596;614;442;452	ENSP00000424601:R596W;ENSP00000323816:R614W;ENSP00000424880:R442W;ENSP00000426932:R452W	ENSP00000323816:R614W	R	+	1	2	AHRR	487629	0.000000	0.05858	0.031000	0.17742	0.004000	0.04260	0.197000	0.17197	0.286000	0.22352	-0.680000	0.03767	CGG	AHRR	-	NULL	ENSG00000063438		0.662	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1		0.00	25	0	C	NM_020731		434629	+1			no_errors	ENST00000316418	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.002	T
AK4	205	genome.wustl.edu	37	1	65690447	65690447	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:65690447G>A	ENST00000327299.7	+	4	656	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	AK4_ENST00000545314.1_Missense_Mutation_p.V151I|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000546702.1_Missense_Mutation_p.V99I|AK4_ENST00000395334.2_Missense_Mutation_p.V151I	NM_013410.3	NP_037542.1			adenylate kinase 4											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						TATTGATGACGTCACTGGTGA	0.408																																																	0													138.0	133.0	135.0					1																	65690447		2203	4300	6503	SO:0001583	missense	0			AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"""Adenylate kinases"""	363	protein-coding gene	gene with protein product		103030	"""adenylate kinase 3"", ""adenylate kinase 3-like 1"""	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	ENST00000327299.7:c.451G>A	1.37:g.65690447G>A	ENSP00000322175:p.Val151Ile			Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.V151I	ENST00000327299.7	37	c.451	CCDS629.1	1	.	.	.	.	.	.	.	.	.	.	G	5.280	0.237135	0.10023	.	.	ENSG00000162433	ENST00000545314;ENST00000546702;ENST00000395334;ENST00000327299	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.15	-9.24	0.00669	Adenylate kinase, active site lid domain (2);	0.527545	0.20670	N	0.087857	T	0.34716	0.0907	N	0.21583	0.68	0.31538	N	0.660328	B	0.02656	0.0	B	0.01281	0.0	T	0.03898	-1.0994	10	0.22109	T	0.4	-9.8744	12.3198	0.54979	0.2372:0.1721:0.5907:0.0	.	151	P27144	KAD4_HUMAN	I	151;99;151;151	ENSP00000445912:V151I;ENSP00000448458:V99I;ENSP00000378743:V151I;ENSP00000322175:V151I	ENSP00000322175:V151I	V	+	1	0	AK4	65463035	0.020000	0.18652	0.272000	0.24630	0.366000	0.29705	-0.209000	0.09358	-1.926000	0.01061	-0.219000	0.12488	GTC	AK4	-	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,tigrfam_Adenyl_kin_sub	ENSG00000162433		0.408	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK4	HGNC	protein_coding	OTTHUMT00000025040.2	-	0.00	64	0	G	NM_013410		65690447	+1	tier1	-	no_errors	ENST00000327299	ensembl	human	known	74_37	missense	25.76	49	17	SNP	0.431	A
ALAS2	212	genome.wustl.edu	37	X	55041310	55041310	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:55041310C>T	ENST00000330807.5	-	9	1444	c.1307G>A	c.(1306-1308)cGg>cAg	p.R436Q	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.R423Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.R399Q	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	436					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CTTGAGCAGCCGCACAGATTC	0.597																																																	0													36.0	29.0	31.0					X																	55041310		2202	4298	6500	SO:0001583	missense	0				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1307G>A	X.37:g.55041310C>T	ENSP00000332369:p.Arg436Gln		A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth	p.R436Q	ENST00000330807.5	37	c.1307	CCDS14366.1	X	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344938	0.24426	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.95205	-3.64;-3.64;-3.64	5.64	2.9	0.33743	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.339032	0.31834	N	0.006998	D	0.88164	0.6363	N	0.25060	0.705	0.42109	D	0.991372	B;B;B	0.23937	0.083;0.083;0.094	B;B;B	0.24394	0.036;0.036;0.053	T	0.81874	-0.0732	10	0.36615	T	0.2	-6.0401	9.3295	0.38012	0.0:0.7526:0.0:0.2474	.	399;423;436	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	Q	436;423;399	ENSP00000332369:R436Q;ENSP00000379501:R423Q;ENSP00000337131:R399Q	ENSP00000332369:R436Q	R	-	2	0	ALAS2	55058035	0.555000	0.26530	0.954000	0.39281	0.039000	0.13416	1.223000	0.32527	0.659000	0.30945	0.600000	0.82982	CGG	ALAS2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth	ENSG00000158578		0.597	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	-	0.00	24	0	C	NM_000032		55041310	-1	tier1	-	no_errors	ENST00000330807	ensembl	human	known	74_37	missense	67.65	11	23	SNP	0.994	T
ALMS1	7840	genome.wustl.edu	37	2	73646442	73646442	+	Silent	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:73646442G>T	ENST00000264448.6	+	3	753	c.642G>T	c.(640-642)ctG>ctT	p.L214L	ALMS1_ENST00000409009.1_Silent_p.L172L|ALMS1_ENST00000377715.1_Silent_p.L214L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	214					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.L214L(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTTCTCCACTGCTAGGTAATG	0.413																																																	1	Substitution - coding silent(1)	ovary(1)											125.0	122.0	123.0					2																	73646442		1836	4095	5931	SO:0001819	synonymous_variant	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.642G>T	2.37:g.73646442G>T			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.L214	ENST00000264448.6	37	c.642	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.413	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1		0.00	24	0	G	NM_015120		73646442	+1			no_errors	ENST00000264448	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	T
ANGPT1	284	genome.wustl.edu	37	8	108509537	108509537	+	IGR	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:108509537G>A								ANGPT1 (160787 upstream) : RNA5SP275 (387184 downstream)																							TCCAGATGTTGAAGTTTCTGG	0.448																																																	0													155.0	143.0	147.0					8																	108509537		2203	4300	6503	SO:0001628	intergenic_variant	0																															8.37:g.108509537G>A				Nonsense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.Q84*		37	c.250		8	.	.	.	.	.	.	.	.	.	.	G	43	9.855863	0.99280	.	.	ENSG00000154188	ENST00000517746;ENST00000297450	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000297450:Q84X	Q	-	1	0	ANGPT1	108578713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.136000	0.94489	2.880000	0.98712	0.650000	0.86243	CAA	ANGPT1	-	NULL	ENSG00000154188	0	0.448					ANGPT1	HGNC				0.00	27	0	G			108509537	-1			no_errors	ENST00000517746	ensembl	human	known	74_37	nonsense	17.86	23	5	SNP	1.000	A
ANK3	288	genome.wustl.edu	37	10	61833950	61833950	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:61833950T>C	ENST00000280772.2	-	37	6880	c.6689A>G	c.(6688-6690)cAc>cGc	p.H2230R	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2230					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AACCCGATTGTGGTCATCTTC	0.418																																																	0													217.0	201.0	206.0					10																	61833950		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6689A>G	10.37:g.61833950T>C	ENSP00000280772:p.His2230Arg		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.H2230R	ENST00000280772.2	37	c.6689	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.150855	0.00328	.	.	ENSG00000151150	ENST00000280772	T	0.61392	0.11	6.05	0.361	0.16107	.	0.159168	0.29653	N	0.011554	T	0.31734	0.0806	N	0.16478	0.41	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30650	-0.9971	10	0.02654	T	1	.	10.1002	0.42499	0.0:0.0656:0.4293:0.5051	.	2230	Q12955	ANK3_HUMAN	R	2230	ENSP00000280772:H2230R	ENSP00000280772:H2230R	H	-	2	0	ANK3	61503956	1.000000	0.71417	0.991000	0.47740	0.769000	0.43574	2.635000	0.46537	0.129000	0.18514	-0.329000	0.08387	CAC	ANK3	-	NULL	ENSG00000151150		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0.00	57	0	T	NM_020987		61833950	-1	tier1	-	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	45.95	20	17	SNP	0.956	C
ANKZF1	55139	genome.wustl.edu	37	2	220099605	220099605	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:220099605C>T	ENST00000323348.5	+	10	1436	c.1262C>T	c.(1261-1263)aCt>aTt	p.T421I	ANKZF1_ENST00000410034.3_Missense_Mutation_p.T421I|GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.T211I	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	421						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGAGTTGACTGTGGGGACT	0.507																																																	0													64.0	73.0	70.0					2																	220099605		2164	4271	6435	SO:0001583	missense	0			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1262C>T	2.37:g.220099605C>T	ENSP00000321617:p.Thr421Ile		Q9NVZ4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T421I	ENST00000323348.5	37	c.1262	CCDS42821.1	2	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684072	0.47991	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.35973	1.28;1.51;1.28	5.5	5.5	0.81552	.	0.044865	0.85682	D	0.000000	T	0.54919	0.1888	M	0.71581	2.175	0.58432	D	0.999996	D	0.56035	0.974	P	0.57425	0.82	T	0.52215	-0.8605	10	0.46703	T	0.11	-8.0875	16.7108	0.85385	0.0:1.0:0.0:0.0	.	421	Q9H8Y5	ANKZ1_HUMAN	I	421;211;421	ENSP00000321617:T421I;ENSP00000386815:T211I;ENSP00000386337:T421I	ENSP00000321617:T421I	T	+	2	0	ANKZF1	219807849	1.000000	0.71417	0.358000	0.25811	0.051000	0.14879	5.682000	0.68182	2.861000	0.98227	0.655000	0.94253	ACT	ANKZF1	-	NULL	ENSG00000163516		0.507	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKZF1	HGNC	protein_coding	OTTHUMT00000335790.1	-	0.00	85	0	C	NM_018089		220099605	+1	tier1	-	no_errors	ENST00000323348	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.999	T
ANXA10	11199	genome.wustl.edu	37	4	169086462	169086462	+	Silent	SNP	C	C	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:169086462C>G	ENST00000359299.3	+	6	651	c.465C>G	c.(463-465)ctC>ctG	p.L155L		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	155						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GAGATACTCTCATGAACTTGG	0.313																																																	0													74.0	77.0	76.0					4																	169086462		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.465C>G	4.37:g.169086462C>G			Q96IQ5|Q9UJV4	Silent	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX	p.L155	ENST00000359299.3	37	c.465	CCDS34096.1	4																																																																																			ANXA10	-	pfam_Annexin_repeat,smart_Annexin_repeat	ENSG00000109511		0.313	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA10	HGNC	protein_coding	OTTHUMT00000364348.2	-	0.00	56	0	C	NM_007193		169086462	+1	tier1	-	no_errors	ENST00000359299	ensembl	human	known	74_37	silent	75.47	13	40	SNP	0.986	G
AP4E1	23431	genome.wustl.edu	37	15	51240354	51240354	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:51240354G>A	ENST00000261842.5	+	11	1420	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	AP4E1_ENST00000560508.1_Silent_p.E363E	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	438					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGCTGGCTGAGAAATATCCTT	0.353																																																	0													90.0	87.0	88.0					15																	51240354		2196	4294	6490	SO:0001819	synonymous_variant	0			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1314G>A	15.37:g.51240354G>A			A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.E438	ENST00000261842.5	37	c.1314	CCDS32240.1	15																																																																																			AP4E1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	ENSG00000081014		0.353	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1		0.00	53	0	G			51240354	+1			no_errors	ENST00000261842	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	A
ARMC6	93436	genome.wustl.edu	37	19	19162794	19162794	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:19162794G>T	ENST00000535612.1	+	5	1075	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	ARMC6_ENST00000546344.1_Missense_Mutation_p.D122Y|ARMC6_ENST00000269932.6_Missense_Mutation_p.D190Y|ARMC6_ENST00000392335.2_Missense_Mutation_p.D190Y|ARMC6_ENST00000392336.3_Missense_Mutation_p.D215Y	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	215					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GAATCGGCAAGACCTGGTGAA	0.602																																																	0													89.0	59.0	69.0					19																	19162794		2203	4300	6503	SO:0001583	missense	0			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.643G>T	19.37:g.19162794G>T	ENSP00000444156:p.Asp215Tyr		B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D215Y	ENST00000535612.1	37	c.643	CCDS56089.1	19	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485106	0.26598	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000269932;ENST00000546344;ENST00000541898;ENST00000535288;ENST00000545190;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.19	2.5	0.30297	Armadillo-like helical (1);Armadillo-type fold (1);	0.550786	0.19867	N	0.104297	T	0.70343	0.3213	L	0.51422	1.61	0.51482	D	0.999923	D	0.58620	0.983	P	0.57776	0.827	T	0.70414	-0.4878	10	0.56958	D	0.05	-6.7993	9.8387	0.40985	0.2234:0.0:0.7765:0.0	.	215	Q6NXE6	ARMC6_HUMAN	Y	190;215;190;190;122;190;122;126;126;215	ENSP00000376147:D190Y;ENSP00000444156:D215Y;ENSP00000441948:D190Y;ENSP00000269932:D190Y;ENSP00000444341:D122Y;ENSP00000446037:D190Y;ENSP00000437580:D122Y;ENSP00000376148:D215Y	ENSP00000269932:D190Y	D	+	1	0	ARMC6	19023794	1.000000	0.71417	0.946000	0.38457	0.278000	0.26855	3.714000	0.54889	0.986000	0.38683	0.462000	0.41574	GAC	ARMC6	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000105676		0.602	ARMC6-001	KNOWN	basic|CCDS	protein_coding	ARMC6	HGNC	protein_coding	OTTHUMT00000403226.1	-	0.00	36	0	G	NM_033415		19162794	+1	tier1	-	no_errors	ENST00000392336	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.998	T
ARSF	416	genome.wustl.edu	37	X	3002339	3002339	+	Silent	SNP	A	A	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:3002339A>T	ENST00000381127.1	+	6	683	c.462A>T	c.(460-462)ccA>ccT	p.P154P	ARSF_ENST00000537104.1_Silent_p.P154P|ARSF_ENST00000359361.2_Silent_p.P154P	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	154					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				GCCACCATCCATATAATTATG	0.483																																																	0													142.0	112.0	122.0					X																	3002339		2203	4300	6503	SO:0001819	synonymous_variant	0			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.462A>T	X.37:g.3002339A>T			Q8TCC5	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.P154	ENST00000381127.1	37	c.462	CCDS14123.1	X																																																																																			ARSF	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000062096		0.483	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	HGNC	protein_coding	OTTHUMT00000055652.1	-	0.00	23	0	A			3002339	+1	tier1	-	no_errors	ENST00000359361	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.000	T
ASXL3	80816	genome.wustl.edu	37	18	31319073	31319073	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:31319073A>G	ENST00000269197.5	+	11	1705	c.1705A>G	c.(1705-1707)Acc>Gcc	p.T569A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGAGACCAGTACCCCCAAAAT	0.423																																																	0													66.0	63.0	64.0					18																	31319073		1898	4127	6025	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1705A>G	18.37:g.31319073A>G	ENSP00000269197:p.Thr569Ala		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.T569A	ENST00000269197.5	37	c.1705	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	A	0.040	-1.289890	0.01387	.	.	ENSG00000141431	ENST00000269197	T	0.13420	2.59	5.47	-1.22	0.09494	.	1.305430	0.04941	N	0.458687	T	0.03783	0.0107	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33599	-0.9862	10	0.05721	T	0.95	.	1.4787	0.02432	0.3442:0.2505:0.283:0.1223	.	569	Q9C0F0	ASXL3_HUMAN	A	569	ENSP00000269197:T569A	ENSP00000269197:T569A	T	+	1	0	ASXL3	29573071	0.000000	0.05858	0.000000	0.03702	0.287000	0.27160	-0.158000	0.10070	-0.127000	0.11661	0.383000	0.25322	ACC	ASXL3	-	NULL	ENSG00000141431		0.423	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0.00	44	0	A			31319073	+1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.000	G
ATP10D	57205	genome.wustl.edu	37	4	47548682	47548682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:47548682G>T	ENST00000273859.3	+	10	1707	c.1438G>T	c.(1438-1440)Gaa>Taa	p.E480*	ATP10D_ENST00000504445.1_Nonsense_Mutation_p.E465*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	480					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E480Q(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTCTGAAGATGAAGATTTTAT	0.468																																																	1	Substitution - Missense(1)	lung(1)											112.0	113.0	113.0					4																	47548682		2203	4300	6503	SO:0001587	stop_gained	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1438G>T	4.37:g.47548682G>T	ENSP00000273859:p.Glu480*		A2RRC8|D6REN2|Q8NC70|Q96SR3	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.E480*	ENST00000273859.3	37	c.1438	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426030	0.83667	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	.	.	.	4.78	4.78	0.61160	.	0.217391	0.31601	N	0.007377	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-4.6253	16.9659	0.86285	0.0:0.0:1.0:0.0	.	.	.	.	X	480;465	.	ENSP00000273859:E480X	E	+	1	0	ATP10D	47243439	1.000000	0.71417	0.979000	0.43373	0.929000	0.56500	6.454000	0.73493	2.499000	0.84300	0.491000	0.48974	GAA	ATP10D	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.468	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1		0.00	56	0	G	NM_020453		47548682	+1			no_errors	ENST00000273859	ensembl	human	known	74_37	nonsense	8.00	23	2	SNP	1.000	T
ATP11A	23250	genome.wustl.edu	37	13	113496688	113496688	+	Missense_Mutation	SNP	G	G	T	rs139662421		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:113496688G>T	ENST00000487903.1	+	17	1892	c.1804G>T	c.(1804-1806)Gca>Tca	p.A602S	ATP11A_ENST00000283558.8_Missense_Mutation_p.A602S|ATP11A_ENST00000375645.3_Missense_Mutation_p.A602S|ATP11A_ENST00000375630.2_Missense_Mutation_p.A602S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	602					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGAGCGTAACGCAGTGGTGAG	0.547																																																	0													53.0	45.0	48.0					13																	113496688		2201	4297	6498	SO:0001583	missense	0			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1804G>T	13.37:g.113496688G>T	ENSP00000420387:p.Ala602Ser		Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,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.A602S	ENST00000487903.1	37	c.1804	CCDS32011.1	13	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175368	0.57692	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	4.9	4.9	0.64082	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.108509	0.64402	D	0.000006	D	0.88880	0.6557	L	0.46947	1.48	0.80722	D	1	P;B;P	0.50819	0.939;0.4;0.731	P;P;P	0.58266	0.836;0.734;0.669	D	0.89898	0.4042	10	0.66056	D	0.02	.	18.4568	0.90724	0.0:0.0:1.0:0.0	.	602;602;602	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	S	602;602;602;602;43	ENSP00000420387:A602S;ENSP00000364781:A602S;ENSP00000364796:A602S;ENSP00000283558:A602S	ENSP00000283558:A602S	A	+	1	0	ATP11A	112544689	1.000000	0.71417	0.400000	0.26346	0.030000	0.12068	8.963000	0.93385	2.421000	0.82119	0.563000	0.77884	GCA	ATP11A	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000068650		0.547	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3		0.00	50	0	G	NM_015205		113496688	+1			no_errors	ENST00000375630	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
ATP13A4	84239	genome.wustl.edu	37	3	193156843	193156843	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:193156843C>A	ENST00000342695.4	-	22	2853	c.2531G>T	c.(2530-2532)gGt>gTt	p.G844V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G825V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	844						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ACCACACATACCTACAAAGTA	0.373																																																	0													217.0	185.0	196.0					3																	193156843		2203	4300	6503	SO:0001583	missense	0			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2531G>T	3.37:g.193156843C>A	ENSP00000339182:p.Gly844Val		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.G844V	ENST00000342695.4	37	c.2531	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889884	0.91889	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.64618	-0.11;-0.11	5.96	5.96	0.96718	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.81659	0.4869	M	0.83852	2.665	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.82396	-0.0478	10	0.59425	D	0.04	-15.2304	18.9858	0.92769	0.0:1.0:0.0:0.0	.	844	Q4VNC1	AT134_HUMAN	V	825;844	ENSP00000376238:G825V;ENSP00000339182:G844V	ENSP00000339182:G844V	G	-	2	0	ATP13A4	194639537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.433000	0.80362	2.832000	0.97577	0.655000	0.94253	GGT	ATP13A4	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000127249		0.373	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	-	0.00	56	0	C	NM_032279		193156843	-1	tier1	-	no_errors	ENST00000342695	ensembl	human	known	74_37	missense	38.33	37	23	SNP	1.000	A
ATP6V0A1	535	genome.wustl.edu	37	17	40642555	40642555	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:40642555C>T	ENST00000343619.4	+	11	1197	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N	ATP6V0A1_ENST00000544137.1_Silent_p.N4N|ATP6V0A1_ENST00000393829.2_Silent_p.N358N|ATP6V0A1_ENST00000585525.1_Silent_p.N315N|ATP6V0A1_ENST00000264649.6_Silent_p.N365N|ATP6V0A1_ENST00000537728.1_Silent_p.N315N|ATP6V0A1_ENST00000546249.1_Silent_p.N358N	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	358					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGCAGACAAACCAGACTCCCC	0.393																																																	0													127.0	123.0	124.0					17																	40642555		2203	4300	6503	SO:0001819	synonymous_variant	0			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1074C>T	17.37:g.40642555C>T			B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	pfam_V-ATPase_116kDa_su	p.N365	ENST00000343619.4	37	c.1095	CCDS45684.1	17																																																																																			ATP6V0A1	-	pfam_V-ATPase_116kDa_su	ENSG00000033627		0.393	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	-	0.00	46	0	C	NM_001130020		40642555	+1	tier1	-	no_errors	ENST00000264649	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.986	T
ATP8B4	79895	genome.wustl.edu	37	15	50152608	50152608	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:50152608C>A	ENST00000284509.6	-	28	3503	c.3362G>T	c.(3361-3363)cGc>cTc	p.R1121L	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R1121L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1121						Golgi apparatus (GO:0005794)|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)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCTTGACCTGCGGGTCCGAGG	0.512																																																	0													89.0	83.0	85.0					15																	50152608		2196	4295	6491	SO:0001583	missense	0			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3362G>T	15.37:g.50152608C>A	ENSP00000284509:p.Arg1121Leu		Q9H727	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,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.R1121L	ENST00000284509.6	37	c.3362	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157911	0.57368	.	.	ENSG00000104043	ENST00000284509	T	0.40225	1.04	5.48	5.48	0.80851	.	0.123056	0.56097	D	0.000039	T	0.43831	0.1265	M	0.67397	2.05	0.41605	D	0.988874	P;B	0.45902	0.868;0.052	P;B	0.46718	0.525;0.023	T	0.30621	-0.9972	10	0.11794	T	0.64	.	10.3045	0.43672	0.0:0.9103:0.0:0.0896	.	199;1121	Q6PG43;Q8TF62	.;AT8B4_HUMAN	L	1121	ENSP00000284509:R1121L	ENSP00000284509:R1121L	R	-	2	0	ATP8B4	47939900	0.998000	0.40836	0.999000	0.59377	0.973000	0.67179	2.424000	0.44714	2.574000	0.86865	0.455000	0.32223	CGC	ATP8B4	-	NULL	ENSG00000104043		0.512	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	-	0.00	47	0	C	NM_024837		50152608	-1	tier1	-	no_errors	ENST00000284509	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	A
BPIFB4	149954	genome.wustl.edu	37	20	31671358	31671358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:31671358C>T	ENST00000375483.3	+	3	355	c.355C>T	c.(355-357)Cga>Tga	p.R119*		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	119						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CAGGGACCTCCGAAACAGTGG	0.587																																																	0													73.0	67.0	69.0					20																	31671358		2203	4300	6503	SO:0001587	stop_gained	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.355C>T	20.37:g.31671358C>T	ENSP00000364632:p.Arg119*		Q5TDX6	Nonsense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.R119*	ENST00000375483.3	37	c.355	CCDS13213.2	20	.	.	.	.	.	.	.	.	.	.	C	9.908	1.208715	0.22205	.	.	ENSG00000186191	ENST00000375483	.	.	.	3.28	1.2	0.21068	.	1.013370	0.07936	N	0.978416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5271	5.8243	0.18544	0.2231:0.5604:0.2165:0.0	.	.	.	.	X	119	.	ENSP00000364632:R119X	R	+	1	2	BPIFB4	31135019	0.746000	0.28272	0.035000	0.18076	0.037000	0.13140	2.038000	0.41184	0.190000	0.20209	-0.502000	0.04539	CGA	BPIFB4	-	NULL	ENSG00000186191		0.587	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	-	0.00	37	0	C	NM_182519		31671358	+1	tier1	-	no_errors	ENST00000375483	ensembl	human	known	74_37	nonsense	26.09	34	12	SNP	0.035	T
BTBD11	121551	genome.wustl.edu	37	12	108045467	108045467	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:108045467A>C	ENST00000280758.5	+	16	3536	c.3008A>C	c.(3007-3009)aAg>aCg	p.K1003T	BTBD11_ENST00000357167.4_Missense_Mutation_p.K540T|BTBD11_ENST00000420571.2_Missense_Mutation_p.K884T|BTBD11_ENST00000494235.2_Missense_Mutation_p.K82T|Y_RNA_ENST00000410228.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1003						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCTGCTGCTAAGTTTTTCCAG	0.438																																																	0													100.0	97.0	98.0					12																	108045467		2203	4300	6503	SO:0001583	missense	0			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3008A>C	12.37:g.108045467A>C	ENSP00000280758:p.Lys1003Thr		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.K1003T	ENST00000280758.5	37	c.3008	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883579	0.72410	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.14	5.14	0.70334	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	L	0.41573	1.285	0.58432	D	0.999999	D;D	0.64830	0.991;0.994	D;D	0.76575	0.988;0.946	T	0.04781	-1.0927	10	0.38643	T	0.18	.	15.235	0.73422	1.0:0.0:0.0:0.0	.	540;1003	E9PHS4;A6QL63	.;BTBDB_HUMAN	T	1003;884;540;82	ENSP00000280758:K1003T;ENSP00000413889:K884T;ENSP00000349690:K540T;ENSP00000448322:K82T	ENSP00000280758:K1003T	K	+	2	0	BTBD11	106569597	1.000000	0.71417	0.978000	0.43139	0.941000	0.58515	8.757000	0.91657	2.050000	0.60909	0.533000	0.62120	AAG	BTBD11	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000151136		0.438	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	-	0.00	55	0	A	NM_152322		108045467	+1	tier1	-	no_errors	ENST00000280758	ensembl	human	known	74_37	missense	67.50	13	27	SNP	1.000	C
BZW1	9689	genome.wustl.edu	37	2	201680407	201680407	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:201680407G>T	ENST00000409600.1	+	4	714	c.259G>T	c.(259-261)Gca>Tca	p.A87S	BZW1_ENST00000452790.2_Missense_Mutation_p.A119S|BZW1_ENST00000409226.1_Missense_Mutation_p.A91S	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TGGTACACTGGCAGATGACAT	0.383																																																	0													87.0	80.0	82.0					2																	201680407		1932	4146	6078	SO:0001583	missense	0			D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.259G>T	2.37:g.201680407G>T	ENSP00000386474:p.Ala87Ser		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.A87S	ENST00000409600.1	37	c.259	CCDS56156.1	2	.	.	.	.	.	.	.	.	.	.	G	9.961	1.222899	0.22457	.	.	ENSG00000082153	ENST00000450637;ENST00000452206;ENST00000410110;ENST00000409600;ENST00000409226;ENST00000452790;ENST00000447069;ENST00000419090	T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.56	5.56	0.83823	.	0.051222	0.85682	D	0.000000	T	0.16811	0.0404	N	0.04355	-0.22	0.49798	D	0.999828	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.12156	0.007;0.001;0.004	T	0.13388	-1.0511	10	0.09084	T	0.74	-5.8681	19.8856	0.96911	0.0:0.0:1.0:0.0	.	91;119;87	B4DWF7;B4DLZ8;Q7L1Q6	.;.;BZW1_HUMAN	S	87;87;87;87;91;119;91;87	ENSP00000412072:A87S;ENSP00000390766:A87S;ENSP00000387086:A87S;ENSP00000386474:A87S;ENSP00000386837:A91S;ENSP00000394316:A119S;ENSP00000393587:A91S;ENSP00000407268:A87S	ENSP00000386837:A91S	A	+	1	0	BZW1	201388652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.795000	0.62489	2.771000	0.95319	0.650000	0.86243	GCA	BZW1	-	NULL	ENSG00000082153		0.383	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BZW1	HGNC	protein_coding	OTTHUMT00000335975.1	-	0.00	87	0	G	NM_014670		201680407	+1	tier1	-	no_errors	ENST00000409600	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
CFAP54	144535	genome.wustl.edu	37	12	97038026	97038026	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:97038026A>C	ENST00000524981.4	+	33	4410	c.4387A>C	c.(4387-4389)Agt>Cgt	p.S1463R				Q96N23	CL055_HUMAN		0																	TCTAATATTAAGTTATGTTAA	0.403																																																	0																																										SO:0001583	missense	0																														ENST00000524981.4:c.4387A>C	12.37:g.97038026A>C	ENSP00000431759:p.Ser1463Arg			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S1463R	ENST00000524981.4	37	c.4387		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.84|10.84	1.464137|1.464137	0.26335|0.26335	.|.	.|.	ENSG00000188596|ENSG00000188596	ENST00000550977|ENST00000524981	.|.	.|.	.|.	5.68|5.68	1.58|1.58	0.23477|0.23477	.|.	.|.	.|.	.|.	.|.	T|T	0.17916|0.17916	0.0430|0.0430	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.10450	.|0.005	T|T	0.31696|0.31696	-0.9934|-0.9934	5|8	.|0.15499	.|T	.|0.54	.|.	5.6166|5.6166	0.17434|0.17434	0.7018:0.1194:0.0731:0.1057|0.7018:0.1194:0.0731:0.1057	.|.	.|1463	.|E9PJL5	.|.	T|R	209|1463	.|.	.|ENSP00000431759:S1463R	K|S	+|+	2|1	0|0	C12orf63|C12orf63	95562157|95562157	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.453000|0.453000	0.21811|0.21811	0.070000|0.070000	0.16634|0.16634	-1.139000|-1.139000	0.01908|0.01908	AAG|AGT	C12orf55	-	NULL	ENSG00000188596		0.403	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	-	0.00	51	0	A			97038026	+1	tier1	-	no_errors	ENST00000524981	ensembl	human	putative	74_37	missense	25.00	15	5	SNP	0.000	C
CFAP54	144535	genome.wustl.edu	37	12	97038039	97038039	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:97038039G>C	ENST00000524981.4	+	33	4423	c.4400G>C	c.(4399-4401)aGa>aCa	p.R1467T				Q96N23	CL055_HUMAN		0																	TATGTTAAAAGAAAGAGGTTC	0.408																																																	0																																										SO:0001583	missense	0																														ENST00000524981.4:c.4400G>C	12.37:g.97038039G>C	ENSP00000431759:p.Arg1467Thr			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.R1467T	ENST00000524981.4	37	c.4400		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.569|8.569	0.879702|0.879702	0.17467|0.17467	.|.	.|.	ENSG00000188596|ENSG00000188596	ENST00000550977|ENST00000524981	.|.	.|.	.|.	5.68|5.68	-0.82|-0.82	0.10826|0.10826	.|.	.|.	.|.	.|.	.|.	T|T	0.46132|0.46132	0.1377|0.1377	L|L	0.38175|0.38175	1.15|1.15	0.19775|0.19775	N|N	0.999954|0.999954	.|D	.|0.63046	.|0.992	.|P	.|0.59357	.|0.856	T|T	0.43637|0.43637	-0.9379|-0.9379	5|8	.|0.52906	.|T	.|0.07	.|.	10.3776|10.3776	0.44092|0.44092	0.3752:0.0:0.6248:0.0|0.3752:0.0:0.6248:0.0	.|.	.|1467	.|E9PJL5	.|.	N|T	213|1467	.|.	.|ENSP00000431759:R1467T	K|R	+|+	3|2	2|0	C12orf63|C12orf63	95562170|95562170	0.999000|0.999000	0.42202|0.42202	0.082000|0.082000	0.20525|0.20525	0.004000|0.004000	0.04260|0.04260	0.343000|0.343000	0.19944|0.19944	-0.494000|-0.494000	0.06669|0.06669	-0.150000|-0.150000	0.13652|0.13652	AAG|AGA	C12orf55	-	NULL	ENSG00000188596		0.408	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	-	0.00	61	0	G			97038039	+1	tier1	-	no_errors	ENST00000524981	ensembl	human	putative	74_37	missense	36.36	14	8	SNP	0.206	C
C16orf93	90835	genome.wustl.edu	37	16	30771670	30771670	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:30771670C>T	ENST00000543610.1	-	4	1365	c.404G>A	c.(403-405)gGc>gAc	p.G135D	PHKG2_ENST00000563588.1_3'UTR|RNF40_ENST00000357890.5_5'Flank|RNF40_ENST00000402121.3_5'Flank|RNF40_ENST00000563683.1_5'Flank|PHKG2_ENST00000424889.3_3'UTR|RNF40_ENST00000324685.6_5'Flank|C16orf93_ENST00000545825.1_Missense_Mutation_p.G135D|C16orf93_ENST00000541260.1_Missense_Mutation_p.G135D	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	135										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CAGTGAGAAGCCCTGCTGGCG	0.617																																																	0													68.0	75.0	72.0					16																	30771670		2197	4300	6497	SO:0001583	missense	0			BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.404G>A	16.37:g.30771670C>T	ENSP00000437532:p.Gly135Asp		A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	NULL	p.G135D	ENST00000543610.1	37	c.404	CCDS32434.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.257847|4.257847	0.80246|0.80246	.|.	.|.	ENSG00000196118|ENSG00000196118	ENST00000535476|ENST00000354963;ENST00000543610;ENST00000545825	.|.	.|.	.|.	4.76|4.76	3.79|3.79	0.43588|0.43588	.|.	.|0.276251	.|0.30901	.|N	.|0.008643	T|T	0.54431|0.54431	0.1858|0.1858	L|L	0.53249|0.53249	1.67|1.67	0.33635|0.33635	D|D	0.606515|0.606515	.|D;P;P	.|0.57571	.|0.98;0.573;0.944	.|P;B;P	.|0.51135	.|0.66;0.343;0.563	T|T	0.63937|0.63937	-0.6524|-0.6524	5|9	.|0.30854	.|T	.|0.27	-22.7576|-22.7576	12.3455|12.3455	0.55118|0.55118	0.0:0.914:0.0:0.0859|0.0:0.914:0.0:0.0859	.|.	.|135;98;135	.|F5GX13;A1A4V9-2;A1A4V9	.|.;.;CP093_HUMAN	T|D	32|98;135;135	.|.	.|ENSP00000347050:G98D	A|G	-|-	1|2	0|0	C16orf93|C16orf93	30679171|30679171	0.940000|0.940000	0.31905|0.31905	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	0.858000|0.858000	0.27845|0.27845	2.474000|2.474000	0.83562|0.83562	0.462000|0.462000	0.41574|0.41574	GCT|GGC	C16orf93	-	NULL	ENSG00000196118		0.617	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf93	HGNC	protein_coding	OTTHUMT00000397089.1	-	0.00	33	0	C	NM_001014979		30771670	-1	tier1	-	no_errors	ENST00000543610	ensembl	human	known	74_37	missense	23.53	12	4	SNP	1.000	T
C1orf87	127795	genome.wustl.edu	37	1	60506694	60506694	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:60506694T>A	ENST00000371201.3	-	4	559	c.452A>T	c.(451-453)cAg>cTg	p.Q151L	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	151			Q -> E (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.				calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTCACCATCTGTTCCAAGGA	0.468																																					NSCLC(75;811 1386 4923 13371 51772)												0													148.0	133.0	138.0					1																	60506694		2203	4300	6503	SO:0001583	missense	0			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.452A>T	1.37:g.60506694T>A	ENSP00000360244:p.Gln151Leu		Q6ZU07|Q8IVS0	Missense_Mutation	SNP	NULL	p.Q151L	ENST00000371201.3	37	c.452	CCDS614.1	1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.594128	0.28445	.	.	ENSG00000162598	ENST00000371201	T	0.19250	2.16	5.02	1.28	0.21552	.	0.827837	0.10655	N	0.649426	T	0.16896	0.0406	L	0.47716	1.5	0.29857	N	0.827982	B	0.13145	0.007	B	0.15052	0.012	T	0.22906	-1.0203	10	0.42905	T	0.14	0.6689	4.5673	0.12193	0.2964:0.0826:0.0:0.621	.	151	Q8N0U7	CA087_HUMAN	L	151	ENSP00000360244:Q151L	ENSP00000360244:Q151L	Q	-	2	0	C1orf87	60279282	0.997000	0.39634	0.784000	0.31847	0.677000	0.39632	2.607000	0.46300	0.048000	0.15891	0.254000	0.18369	CAG	C1orf87	-	NULL	ENSG00000162598		0.468	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	HGNC	protein_coding	OTTHUMT00000024943.1		0.00	17	0	T	NM_152377		60506694	-1			no_errors	ENST00000371201	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.566	A
C1orf112	55732	genome.wustl.edu	37	1	169768031	169768031	+	5'UTR	SNP	G	G	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:169768031G>C	ENST00000286031.6	+	0	609				C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000359326.4_5'UTR|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000456684.1_Intron	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112											breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTATTACTATGATACTAGTAT	0.299																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.-92G>C	1.37:g.169768031G>C			A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	RNA	SNP	-	NULL	ENST00000286031.6	37	NULL	CCDS1285.1	1																																																																																			C1orf112	-	-	ENSG00000000460		0.299	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	-	0.00	42	0	G	NM_018186		169768031	+1	tier1	-	no_errors	ENST00000472795	ensembl	human	known	74_37	rna	20.00	28	7	SNP	0.000	C
C9orf117	286207	genome.wustl.edu	37	9	130472879	130472879	+	Splice_Site	DEL	G	G	-			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:130472879delG	ENST00000373295.2	+	3	473		c.e3-1		C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117											breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GTGGCGGCCAGGGGGGAAGCT	0.617																																																	0													13.0	16.0	15.0					9																	130472879		2007	4152	6159	SO:0001630	splice_region_variant	0			AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.434-1G>-	9.37:g.130472879delG			A5D8T9	Splice_Site	DEL	-	e3-1	ENST00000373295.2	37	c.434-1	CCDS43878.1	9																																																																																			C9orf117	-	-	ENSG00000160401		0.617	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C9orf117	HGNC	protein_coding	OTTHUMT00000054215.2		0.00	43	0	G	NM_001012502	Intron	130472879	+1	tier1		no_errors	ENST00000373295	ensembl	human	known	74_37	splice_site_del	6.90	27	2	DEL	1.000	-
CAMTA2	23125	genome.wustl.edu	37	17	4872598	4872598	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:4872598A>G	ENST00000348066.3	-	21	3440	c.3317T>C	c.(3316-3318)aTc>aCc	p.I1106T	CAMTA2_ENST00000381311.5_Missense_Mutation_p.I1101T|SPAG7_ENST00000575142.1_5'Flank|RP5-1050D4.3_ENST00000576752.1_RNA|CAMTA2_ENST00000414043.3_Missense_Mutation_p.I1129T|CAMTA2_ENST00000361571.5_Missense_Mutation_p.I1105T|SPAG7_ENST00000206020.3_5'Flank|CAMTA2_ENST00000572543.1_Missense_Mutation_p.I1111T|SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000358183.4_Missense_Mutation_p.I1099T|SPAG7_ENST00000573366.1_5'Flank	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1106	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTGGATCAGGATGGCCGCCTG	0.587																																																	0													73.0	80.0	77.0					17																	4872598		2202	4300	6502	SO:0001583	missense	0			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.3317T>C	17.37:g.4872598A>G	ENSP00000321813:p.Ile1106Thr		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.I1129T	ENST00000348066.3	37	c.3386	CCDS11063.1	17	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545554	0.65198	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	4.21	4.21	0.49690	.	0.138100	0.46442	D	0.000294	T	0.75917	0.3915	L	0.41710	1.295	0.43095	D	0.994777	D;D;D;D	0.76494	0.993;0.96;0.968;0.999	D;D;D;D	0.80764	0.977;0.948;0.969;0.994	T	0.76296	-0.3011	10	0.46703	T	0.11	-13.5584	11.309	0.49353	1.0:0.0:0.0:0.0	.	1129;1101;1106;1105	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	T	1129;1101;1105;1099;1106	ENSP00000412886:I1129T;ENSP00000370712:I1101T;ENSP00000354828:I1105T;ENSP00000350910:I1099T;ENSP00000321813:I1106T	ENSP00000321813:I1106T	I	-	2	0	CAMTA2	4813322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.072000	0.93986	1.778000	0.52293	0.460000	0.39030	ATC	CAMTA2	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	ENSG00000108509		0.587	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	-	0.00	92	0	A	NM_015099		4872598	-1	tier1	-	no_errors	ENST00000414043	ensembl	human	known	74_37	missense	10.61	59	7	SNP	1.000	G
CARD6	84674	genome.wustl.edu	37	5	40853005	40853005	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:40853005A>G	ENST00000254691.5	+	3	1770	c.1571A>G	c.(1570-1572)cAa>cGa	p.Q524R	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	524					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCCTTTTTCCAAAAGCCTGTT	0.423																																																	0													74.0	79.0	78.0					5																	40853005		2203	4300	6503	SO:0001583	missense	0			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1571A>G	5.37:g.40853005A>G	ENSP00000254691:p.Gln524Arg		Q52LR2	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD	p.Q524R	ENST00000254691.5	37	c.1571	CCDS3935.1	5	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857775	0.51376	.	.	ENSG00000132357	ENST00000254691	T	0.12774	2.65	5.48	4.32	0.51571	.	0.476460	0.20015	N	0.101037	T	0.25717	0.0626	M	0.67953	2.075	0.80722	D	1	D	0.64830	0.994	P	0.56278	0.795	T	0.02167	-1.1202	10	0.24483	T	0.36	-3.1903	10.0462	0.42188	0.5894:0.4106:0.0:0.0	.	524	Q9BX69	CARD6_HUMAN	R	524	ENSP00000254691:Q524R	ENSP00000254691:Q524R	Q	+	2	0	CARD6	40888762	0.858000	0.29795	0.972000	0.41901	0.805000	0.45488	0.390000	0.20768	1.037000	0.40024	0.528000	0.53228	CAA	CARD6	-	NULL	ENSG00000132357		0.423	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	HGNC	protein_coding	OTTHUMT00000211584.3	-	0.00	68	0	A			40853005	+1	tier1	-	no_errors	ENST00000254691	ensembl	human	known	74_37	missense	15.62	54	10	SNP	0.916	G
CCDC102B	79839	genome.wustl.edu	37	18	66678251	66678251	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:66678251C>G	ENST00000360242.5	+	7	1461	c.1344C>G	c.(1342-1344)aaC>aaG	p.N448K	CCDC102B_ENST00000584156.1_Missense_Mutation_p.N448K|CCDC102B_ENST00000319445.6_Missense_Mutation_p.N448K	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	448										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CTCATGCAAACAACCGAGTGG	0.358																																																	0													107.0	100.0	103.0					18																	66678251		2203	4300	6503	SO:0001583	missense	0			AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1344C>G	18.37:g.66678251C>G	ENSP00000353377:p.Asn448Lys		Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	NULL	p.N448K	ENST00000360242.5	37	c.1344	CCDS11996.2	18	.	.	.	.	.	.	.	.	.	.	C	1.845	-0.466586	0.04476	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.12255	2.7;2.7	5.41	2.65	0.31530	.	0.349136	0.24623	N	0.036943	T	0.12561	0.0305	L	0.58810	1.83	0.53688	D	0.999979	B	0.27140	0.169	B	0.32583	0.148	T	0.09952	-1.0651	10	0.12103	T	0.63	-6.2251	5.6799	0.17769	0.0:0.6635:0.1607:0.1758	.	448	Q68D86	C102B_HUMAN	K	448	ENSP00000316237:N448K;ENSP00000353377:N448K	ENSP00000316237:N448K	N	+	3	2	CCDC102B	64829231	0.993000	0.37304	0.001000	0.08648	0.002000	0.02628	3.186000	0.50942	0.264000	0.21851	-0.882000	0.02950	AAC	CCDC102B	-	NULL	ENSG00000150636		0.358	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC102B	HGNC	protein_coding	OTTHUMT00000256225.2	-	0.00	44	0	C	NM_024781		66678251	+1	tier1	-	no_errors	ENST00000319445	ensembl	human	known	74_37	missense	60.00	10	15	SNP	0.687	G
CCDC160	347475	genome.wustl.edu	37	X	133378941	133378941	+	Silent	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:133378941T>C	ENST00000517294.1	+	3	494	c.111T>C	c.(109-111)acT>acC	p.T37T	CCDC160_ENST00000370809.4_Silent_p.T37T			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	37										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AACAAACGACTGCAGATAGCA	0.338																																																	0													25.0	24.0	24.0					X																	133378941		1807	4074	5881	SO:0001819	synonymous_variant	0			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.111T>C	X.37:g.133378941T>C				Silent	SNP	NULL	p.T37	ENST00000517294.1	37	c.111	CCDS48171.1	X																																																																																			CCDC160	-	NULL	ENSG00000203952		0.338	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	-	0.00	66	0	T	NM_001101357		133378941	+1	tier1	-	no_errors	ENST00000370809	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.000	C
SOHLH2	54937	genome.wustl.edu	37	13	36748633	36748633	+	Silent	SNP	T	T	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:36748633T>A	ENST00000379881.3	-	8	949	c.861A>T	c.(859-861)ccA>ccT	p.P287P	SOHLH2_ENST00000554962.1_Silent_p.P364P|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.P364P	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	287					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TGACAGTGCCTGGGAGAGACA	0.393																																																	0													184.0	182.0	183.0					13																	36748633		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.861A>T	13.37:g.36748633T>A			B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P364	ENST00000379881.3	37	c.1092	CCDS9355.1	13																																																																																			CCDC169-SOHLH2	-	superfamily_bHLH_dom	ENSG00000250709		0.393	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC169-SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	-	0.00	71	0	T	NM_017826		36748633	-1	tier1	-	no_errors	ENST00000511166	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.534	A
CCDC51	79714	genome.wustl.edu	37	3	48474404	48474404	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:48474404G>T	ENST00000395694.2	-	4	735	c.650C>A	c.(649-651)gCt>gAt	p.A217D	CCDC51_ENST00000395696.1_Missense_Mutation_p.A217D|CCDC51_ENST00000442740.1_Missense_Mutation_p.A108D|PLXNB1_ENST00000448774.2_5'Flank|CCDC51_ENST00000412398.2_Missense_Mutation_p.A108D|CCDC51_ENST00000447018.1_Missense_Mutation_p.A108D|PLXNB1_ENST00000296440.6_5'Flank	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	217						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGTGGAGCCAGCCACACCAAT	0.587																																																	0													83.0	89.0	87.0					3																	48474404		2010	4178	6188	SO:0001583	missense	0			AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.650C>A	3.37:g.48474404G>T	ENSP00000379047:p.Ala217Asp		Q9HA01	Missense_Mutation	SNP	NULL	p.A217D	ENST00000395694.2	37	c.650	CCDS2766.2	3	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008170	0.75046	.	.	ENSG00000164051	ENST00000447018;ENST00000395694;ENST00000412398;ENST00000395696;ENST00000442740	T;T;T;T;T	0.50277	0.81;0.75;0.81;0.75;0.81	5.75	3.93	0.45458	.	0.342930	0.35495	N	0.003164	T	0.54515	0.1863	M	0.65975	2.015	0.39810	D	0.972693	D	0.64830	0.994	P	0.56751	0.805	T	0.57568	-0.7789	10	0.66056	D	0.02	-16.7393	3.9782	0.09484	0.2464:0.0:0.5801:0.1735	.	217	Q96ER9	CCD51_HUMAN	D	108;217;108;217;108	ENSP00000412300:A108D;ENSP00000379047:A217D;ENSP00000401194:A108D;ENSP00000379049:A217D;ENSP00000392898:A108D	ENSP00000379047:A217D	A	-	2	0	CCDC51	48449408	1.000000	0.71417	0.706000	0.30403	0.993000	0.82548	6.006000	0.70724	0.737000	0.32582	0.655000	0.94253	GCT	CCDC51	-	NULL	ENSG00000164051		0.587	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC51	HGNC	protein_coding	OTTHUMT00000344599.2	-	0.00	40	0	G	NM_024661		48474404	-1	tier1	-	no_errors	ENST00000395694	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.950	T
CCR1	1230	genome.wustl.edu	37	3	46245367	46245367	+	Silent	SNP	G	G	A	rs146268408		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:46245367G>A	ENST00000296140.3	-	2	563	c.438C>T	c.(436-438)acC>acT	p.T146T	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	146					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAAAAGTGACGGTCCGTGCCC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		20906	0.0		0.001	False		,,,				2504	0.0																0								G		2,4404	4.2+/-10.8	0,2,2201	77.0	73.0	74.0		438	-9.7	0.0	3	dbSNP_134	74	11,8589	7.7+/-29.5	0,11,4289	no	coding-synonymous	CCR1	NM_001295.2		0,13,6490	AA,AG,GG		0.1279,0.0454,0.1		146/356	46245367	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.438C>T	3.37:g.46245367G>A			Q86VA9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt	p.T146	ENST00000296140.3	37	c.438	CCDS2737.1	3																																																																																			CCR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt	ENSG00000163823		0.517	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2		0.00	21	0	G	NM_001295		46245367	-1			no_errors	ENST00000296140	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.000	A
CCNL1	57018	genome.wustl.edu	37	3	156869712	156869712	+	Intron	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:156869712G>A	ENST00000295926.3	-	5	793				CCNL1_ENST00000461804.1_Intron|Y_RNA_ENST00000364908.1_RNA|CCNL1_ENST00000479052.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TTACCATCATGGACTACCCTT	0.423																																																	0																																										SO:0001627	intron_variant	0			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.674+253C>T	3.37:g.156869712G>A			B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.H228Y	ENST00000295926.3	37	c.682	CCDS3178.1	3																																																																																			CCNL1	-	pirsf_Cyclin_L	ENSG00000163660		0.423	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	HGNC	protein_coding	OTTHUMT00000351859.1	-	0.00	37	0	G	NM_020307		156869712	-1	tier1	-	no_errors	ENST00000470121	ensembl	human	known	74_37	missense	31.25	22	10	SNP	1.000	A
CDADC1	81602	genome.wustl.edu	37	13	49833555	49833555	+	Missense_Mutation	SNP	A	A	G	rs561981629		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:49833555A>G	ENST00000251108.6	+	4	439	c.326A>G	c.(325-327)cAt>cGt	p.H109R	CDADC1_ENST00000444959.1_Intron|CDADC1_ENST00000538056.1_Missense_Mutation_p.H109R	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	109							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|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;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GAAGATTTACATGCCGGGCAG	0.348													A|||	0	0.0	0.0	0.0	5008	,	,		17064	0.0		0.0	False		,,,				2504	0.0																0													125.0	123.0	124.0					13																	49833555		2203	4300	6503	SO:0001583	missense	0			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.326A>G	13.37:g.49833555A>G	ENSP00000251108:p.His109Arg		Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like	p.H109R	ENST00000251108.6	37	c.326	CCDS9415.1	13	.	.	.	.	.	.	.	.	.	.	A	22.8	4.331233	0.81690	.	.	ENSG00000102543	ENST00000538056;ENST00000251108	T;T	0.70045	-0.45;-0.45	5.77	5.77	0.91146	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89229	0.3576	10	0.87932	D	0	-17.112	15.5697	0.76323	1.0:0.0:0.0:0.0	.	109	Q9BWV3	CDAC1_HUMAN	R	109	ENSP00000442779:H109R;ENSP00000251108:H109R	ENSP00000251108:H109R	H	+	2	0	CDADC1	48731556	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.047000	0.89440	2.330000	0.79161	0.477000	0.44152	CAT	CDADC1	-	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like	ENSG00000102543		0.348	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDADC1	HGNC	protein_coding	OTTHUMT00000044902.2	-	0.00	61	0	A	NM_030911		49833555	+1	tier1	-	no_errors	ENST00000251108	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	G
CFH	3075	genome.wustl.edu	37	1	196659305	196659305	+	Silent	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:196659305A>G	ENST00000359637.2	+	8	1142	c.1080A>G	c.(1078-1080)aaA>aaG	p.K360K	CFH_ENST00000439155.2_Silent_p.K424K|CFH_ENST00000367429.4_Silent_p.K424K			P08603	CFAH_HUMAN	complement factor H	424	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTCTTCCAAAAGCGCAGACCA	0.428																																																	0													107.0	90.0	96.0					1																	196659305		2203	4300	6503	SO:0001819	synonymous_variant	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1080A>G	1.37:g.196659305A>G			A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.K424	ENST00000359637.2	37	c.1272		1																																																																																			CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.428	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000087502.1	-	0.00	69	0	A	NM_000186		196659305	+1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	silent	58.14	18	25	SNP	0.002	G
CFTR	1080	genome.wustl.edu	37	7	117180247	117180247	+	Silent	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:117180247T>C	ENST00000003084.6	+	8	1095	c.963T>C	c.(961-963)tcT>tcC	p.S321S	CFTR_ENST00000454343.1_Silent_p.S321S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	321	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TGTTTTTATCTGTGCTTCCCT	0.438									Cystic Fibrosis																																								0													173.0	155.0	161.0					7																	117180247		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.963T>C	7.37:g.117180247T>C			Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	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,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.S321	ENST00000003084.6	37	c.963	CCDS5773.1	7																																																																																			CFTR	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_cAMP_cl_channel	ENSG00000001626		0.438	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3		0.00	75	0	T	NM_000492		117180247	+1			no_errors	ENST00000003084	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.991	C
PCGF2	7703	genome.wustl.edu	37	17	36890780	36890781	+	3'UTR	INS	-	-	A	rs386386025|rs5820265|rs3066488|rs33995757	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:36890780_36890781insA	ENST00000580830.1	-	0	2431_2432				PCGF2_ENST00000581345.1_3'UTR|RNA5SP440_ENST00000363245.1_RNA|PCGF2_ENST00000360797.2_3'UTR|CISD3_ENST00000578573.1_3'UTR|CISD3_ENST00000439660.2_3'UTR			P35227	PCGF2_HUMAN	polycomb group ring finger 2						anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					ACACACACAGGAAAAAAAAAAA	0.47														1021	0.203874	0.441	0.1037	5008	,	,		20215	0.0704		0.0795	False		,,,				2504	0.2198																0																																										SO:0001624	3_prime_UTR_variant	0			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.*696->T	17.37:g.36890791_36890791dupA			A6NGD8	RNA	INS	-	NULL	ENST00000580830.1	37	NULL	CCDS32638.1	17																																																																																			CISD3	-	-	ENSG00000230055		0.470	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD3	HGNC	protein_coding	OTTHUMT00000442246.2		0.00	36	0	-	NM_007144		36890781	+1	tier1		no_errors	ENST00000578573	ensembl	human	known	74_37	rna	11.43	31	4	INS	0.000:0.000	A
CLCA3P	9629	genome.wustl.edu	37	1	87108268	87108268	+	RNA	SNP	T	T	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:87108268T>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							ATAAAGAAGCTCCAAACCTAT	0.328																																																	0													96.0	94.0	95.0					1																	87108268		2203	4300	6503			0																															1.37:g.87108268T>A				RNA	SNP	-	NULL	ENST00000456587.1	37	NULL		1																																																																																			CLCA3P	-	-	ENSG00000153923		0.328	RP4-651E10.4-001	KNOWN	non_canonical_TEC|basic	antisense	CLCA3P	HGNC	antisense	OTTHUMT00000028263.1	-	0.00	28	0	T			87108268	+1	tier1	-	no_errors	ENST00000284054	ensembl	human	known	74_37	rna	43.59	22	17	SNP	0.999	A
CLRN1	7401	genome.wustl.edu	37	3	150690295	150690295	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:150690295G>A	ENST00000327047.1	-	1	491	c.201C>T	c.(199-201)caC>caT	p.H67H	CLRN1_ENST00000328863.4_Silent_p.H67H|CLRN1-AS1_ENST00000465576.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	67					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CACCCTCTCCGTGGAAAAGCC	0.502																																																	0													95.0	83.0	87.0					3																	150690295		2203	4300	6503	SO:0001819	synonymous_variant	0			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.201C>T	3.37:g.150690295G>A			D3DNJ3|E1ACU9|Q8N6A9	Silent	SNP	NULL	p.H67	ENST00000327047.1	37	c.201	CCDS3153.1	3																																																																																			CLRN1	-	NULL	ENSG00000163646		0.502	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN1	HGNC	protein_coding	OTTHUMT00000277060.1		0.00	49	0	G			150690295	-1			no_errors	ENST00000328863	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.981	A
CNST	163882	genome.wustl.edu	37	1	246810502	246810502	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:246810502G>A	ENST00000366513.4	+	9	1268	c.999G>A	c.(997-999)ctG>ctA	p.L333L	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.L333L	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	333					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TGGAGCCCCTGGGGAGCAGTC	0.463											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78.0	82.0	80.0					1																	246810502		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.999G>A	1.37:g.246810502G>A		2468	Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	NULL	p.L333	ENST00000366513.4	37	c.999	CCDS1628.1	1																																																																																			CNST	-	NULL	ENSG00000162852		0.463	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNST	HGNC	protein_coding	OTTHUMT00000096780.1	-	0.00	55	0	G	NM_152609		246810502	+1	tier1	-	no_errors	ENST00000366513	ensembl	human	known	74_37	silent	46.94	25	23	SNP	0.001	A
CNTN5	53942	genome.wustl.edu	37	11	99690322	99690322	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:99690322T>A	ENST00000524871.1	+	4	393	c.103T>A	c.(103-105)Tta>Ata	p.L35I	CNTN5_ENST00000528682.1_Missense_Mutation_p.L35I|CNTN5_ENST00000279463.3_Missense_Mutation_p.L35I|CNTN5_ENST00000527185.1_Missense_Mutation_p.L35I|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	35					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGCTGCTTTGTTAAGAATTAA	0.363																																																	0													129.0	127.0	127.0					11																	99690322		1871	4114	5985	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.103T>A	11.37:g.99690322T>A	ENSP00000435637:p.Leu35Ile		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L35I	ENST00000524871.1	37	c.103	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	T	15.22	2.768877	0.49680	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.56444	0.46;0.53;0.53;0.53	5.06	-0.0656	0.13768	.	0.532665	0.16693	N	0.203452	T	0.28995	0.0720	N	0.14661	0.345	0.39436	D	0.967168	B;B	0.14438	0.01;0.01	B;B	0.15052	0.012;0.012	T	0.04360	-1.0957	10	0.39692	T	0.17	.	5.2743	0.15641	0.0:0.4637:0.1401:0.3962	.	35;35	E9PKE8;O94779	.;CNTN5_HUMAN	I	35	ENSP00000433575:L35I;ENSP00000436185:L35I;ENSP00000435637:L35I;ENSP00000279463:L35I	ENSP00000279463:L35I	L	+	1	2	CNTN5	99195532	0.932000	0.31603	0.931000	0.37212	0.446000	0.32137	0.031000	0.13710	0.085000	0.17107	-0.248000	0.11899	TTA	CNTN5	-	NULL	ENSG00000149972		0.363	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0.00	51	0	T	NM_014361		99690322	+1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.875	A
CNTNAP5	129684	genome.wustl.edu	37	2	125285014	125285014	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:125285014C>A	ENST00000431078.1	+	10	1991	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	543	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACACATTGATCTGTGTAGCAT	0.413																																																	0													137.0	134.0	135.0					2																	125285014		1887	4103	5990	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1627C>A	2.37:g.125285014C>A	ENSP00000399013:p.Leu543Met		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	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.L543M	ENST00000431078.1	37	c.1627	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284873	0.23392	.	.	ENSG00000155052	ENST00000431078	D	0.87650	-2.28	5.58	5.58	0.84498	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.35067	N	0.003463	D	0.86830	0.6027	N	0.20685	0.6	0.35757	D	0.819893	D	0.89917	1.0	D	0.74023	0.982	D	0.85598	0.1250	10	0.18276	T	0.48	.	13.5145	0.61533	0.1558:0.8442:0.0:0.0	.	543	Q8WYK1	CNTP5_HUMAN	M	543	ENSP00000399013:L543M	ENSP00000399013:L543M	L	+	1	2	CNTNAP5	125001484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.052000	0.41316	2.629000	0.89072	0.650000	0.86243	CTG	CNTNAP5	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000155052		0.413	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0.00	80	0	C			125285014	+1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	A
COL4A4	1286	genome.wustl.edu	37	2	227872864	227872864	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:227872864C>T	ENST00000396625.3	-	47	4886	c.4679G>A	c.(4678-4680)cGc>cAc	p.R1560H	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1557H	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1560	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACATAGGGGCGGATCGCCTC	0.662																																																	0													31.0	38.0	36.0					2																	227872864		2049	4182	6231	SO:0001583	missense	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4679G>A	2.37:g.227872864C>T	ENSP00000379866:p.Arg1560His		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R1560H	ENST00000396625.3	37	c.4679	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013331	0.35511	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94650	-3.48;-3.48	5.91	4.93	0.64822	C-type lectin fold (1);	.	.	.	.	D	0.92241	0.7539	L	0.54863	1.705	0.09310	N	1	D	0.61697	0.99	P	0.45377	0.478	D	0.86863	0.2031	9	0.66056	D	0.02	.	6.6429	0.22919	0.0:0.7279:0.0:0.2721	.	1560	P53420	CO4A4_HUMAN	H	1560;1557	ENSP00000379866:R1560H;ENSP00000328553:R1557H	ENSP00000328553:R1557H	R	-	2	0	COL4A4	227581108	0.012000	0.17670	1.000000	0.80357	0.195000	0.23768	0.846000	0.27682	2.793000	0.96121	0.655000	0.94253	CGC	COL4A4	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	ENSG00000081052		0.662	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	-	0.00	75	0	C	NM_000092		227872864	-1	tier1	-	no_errors	ENST00000396625	ensembl	human	known	74_37	missense	39.62	32	21	SNP	0.096	T
COL6A1	1291	genome.wustl.edu	37	21	47406477	47406477	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr21:47406477G>T	ENST00000361866.3	+	4	580	c.466G>T	c.(466-468)Gtg>Ttg	p.V156L		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	156	N-terminal globular domain.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CCTGATTGTGGTGACCGACGG	0.617																																																	0													32.0	33.0	32.0					21																	47406477		2176	4279	6455	SO:0001583	missense	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.466G>T	21.37:g.47406477G>T	ENSP00000355180:p.Val156Leu		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V156L	ENST00000361866.3	37	c.466	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669103	0.67814	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	T	0.80033	-1.33	3.74	3.74	0.42951	von Willebrand factor, type A (3);	0.083332	0.48767	D	0.000168	D	0.83170	0.5196	L	0.37750	1.13	0.58432	D	0.999996	D	0.69078	0.997	D	0.79108	0.992	T	0.79502	-0.1777	10	0.16896	T	0.51	-5.2279	15.56	0.76237	0.0:0.0:1.0:0.0	.	156	P12109	CO6A1_HUMAN	L	156	ENSP00000355180:V156L	ENSP00000355180:V156L	V	+	1	0	COL6A1	46230905	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	6.041000	0.70988	1.648000	0.50643	0.297000	0.19635	GTG	COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142156		0.617	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0.00	116	0	G	NM_001848		47406477	+1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	26.74	63	23	SNP	1.000	T
COL6A5	256076	genome.wustl.edu	37	3	130113738	130113738	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:130113738C>A	ENST00000432398.2	+	8	3492	c.2998C>A	c.(2998-3000)Cat>Aat	p.H1000N	COL6A5_ENST00000265379.6_Missense_Mutation_p.H1000N	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1000	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGCAGTCTGTCATCTTCAGGA	0.328																																																	0													64.0	51.0	55.0					3																	130113738		692	1591	2283	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2998C>A	3.37:g.130113738C>A	ENSP00000390895:p.His1000Asn		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.H1000N	ENST00000432398.2	37	c.2998		3	.	.	.	.	.	.	.	.	.	.	C	3.280	-0.147259	0.06627	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.76968	-1.06;-1.06	5.53	-4.9	0.03094	.	.	.	.	.	T	0.48624	0.1510	N	0.02960	-0.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35699	-0.9778	9	0.22109	T	0.4	.	9.2557	0.37581	0.4108:0.1135:0.4757:0.0	.	1000	A8TX70-2	.	N	1000	ENSP00000390895:H1000N;ENSP00000265379:H1000N	ENSP00000265379:H1000N	H	+	1	0	COL6A5	131596428	0.030000	0.19436	0.002000	0.10522	0.380000	0.30137	0.119000	0.15626	-0.771000	0.04608	-0.494000	0.04653	CAT	COL6A5	-	NULL	ENSG00000172752		0.328	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding			0.00	26	0	C	NM_153264		130113738	+1			no_errors	ENST00000265379	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.001	A
CPQ	10404	genome.wustl.edu	37	8	97797325	97797325	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:97797325T>A	ENST00000220763.5	+	2	410	c.200T>A	c.(199-201)tTg>tAg	p.L67*		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	67					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										TATGAGCGATTGGCACTTCTG	0.438																																																	0													121.0	113.0	116.0					8																	97797325		2203	4300	6503	SO:0001587	stop_gained	0			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.200T>A	8.37:g.97797325T>A	ENSP00000220763:p.Leu67*		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Nonsense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.L67*	ENST00000220763.5	37	c.200	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	T	25.9	4.680642	0.88542	.	.	ENSG00000104324	ENST00000220763;ENST00000519900;ENST00000517742;ENST00000519484;ENST00000521142	.	.	.	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2148	15.2124	0.73235	0.0:0.0:0.0:1.0	.	.	.	.	X	67	.	ENSP00000220763:L67X	L	+	2	0	AC010859.1	97866501	1.000000	0.71417	0.903000	0.35520	0.718000	0.41266	7.458000	0.80787	2.009000	0.58944	0.460000	0.39030	TTG	CPQ	-	NULL	ENSG00000104324		0.438	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2		0.00	32	0	T	NM_016134		97797325	+1			no_errors	ENST00000220763	ensembl	human	known	74_37	nonsense	8.33	22	2	SNP	0.997	A
CRYL1	51084	genome.wustl.edu	37	13	20978792	20978792	+	Silent	SNP	A	A	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:20978792A>T	ENST00000298248.7	-	7	890	c.828T>A	c.(826-828)acT>acA	p.T276T	CRYL1_ENST00000382812.1_Silent_p.T254T	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	276					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CCTTCTCAGCAGTGGCCCTGG	0.493																																																	0													159.0	167.0	164.0					13																	20978792		1932	4135	6067	SO:0001819	synonymous_variant	0			AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.828T>A	13.37:g.20978792A>T			A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Silent	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.T276	ENST00000298248.7	37	c.828	CCDS41871.1	13																																																																																			CRYL1	-	pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	ENSG00000165475		0.493	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYL1	HGNC	protein_coding	OTTHUMT00000044071.1		0.00	61	0	A	NM_015974		20978792	-1			no_errors	ENST00000298248	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.000	T
CSMD3	114788	genome.wustl.edu	37	8	113347645	113347645	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:113347645C>G	ENST00000297405.5	-	45	7322	c.7078G>C	c.(7078-7080)Gaa>Caa	p.E2360Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.E2256Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.E2320Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2290Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2360	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGACTGATTCCAAAGCGGTA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													131.0	119.0	123.0					8																	113347645		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7078G>C	8.37:g.113347645C>G	ENSP00000297405:p.Glu2360Gln		Q96PZ3	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.E2360Q	ENST00000297405.5	37	c.7078	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485407	0.84854	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	4.78	4.78	0.61160	CUB (5);	0.000000	0.64402	D	0.000001	T	0.35941	0.0949	L	0.38649	1.16	0.58432	D	0.999993	D;D;D	0.76494	0.999;0.974;0.984	D;P;D	0.72338	0.977;0.884;0.933	T	0.02109	-1.1212	10	0.23891	T	0.37	.	18.3494	0.90333	0.0:1.0:0.0:0.0	.	2256;2360;2320	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	2320;2360;1630;2256;2290	ENSP00000345799:E2320Q;ENSP00000297405:E2360Q;ENSP00000341558:E1630Q;ENSP00000412263:E2256Q;ENSP00000343124:E2290Q	ENSP00000297405:E2360Q	E	-	1	0	CSMD3	113416821	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.548000	0.82154	2.649000	0.89929	0.585000	0.79938	GAA	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	48	0	C	NM_052900		113347645	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	15.52	49	9	SNP	1.000	G
CSPG5	10675	genome.wustl.edu	37	3	47618986	47618986	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:47618986A>T	ENST00000383738.2	-	2	2628	c.530T>A	c.(529-531)cTg>cAg	p.L177Q	CSPG5_ENST00000456150.1_Missense_Mutation_p.L39Q|CSPG5_ENST00000264723.4_Missense_Mutation_p.L177Q|CSPG5_ENST00000465441.1_5'Flank	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	177					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCCCAGGTTCAGCCAAACCTC	0.637																																																	0													31.0	37.0	35.0					3																	47618986		2202	4300	6502	SO:0001583	missense	0			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.530T>A	3.37:g.47618986A>T	ENSP00000373244:p.Leu177Gln		Q71M39|Q71M40	Missense_Mutation	SNP	pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.L177Q	ENST00000383738.2	37	c.530	CCDS56253.1	3	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750547	0.69533	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.61392	0.11;0.11;0.11	4.02	4.02	0.46733	Chondroitin sulphate attachment (1);	0.272209	0.23803	N	0.044405	T	0.59418	0.2192	L	0.27053	0.805	0.31433	N	0.672903	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62955	-0.6744	10	0.87932	D	0	-9.1175	6.2039	0.20591	0.8859:0.0:0.1141:0.0	.	177;177	O95196;O95196-2	CSPG5_HUMAN;.	Q	39;177;177	ENSP00000392096:L39Q;ENSP00000373244:L177Q;ENSP00000264723:L177Q	ENSP00000264723:L177Q	L	-	2	0	CSPG5	47593990	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.149000	0.50655	1.815000	0.52974	0.523000	0.50628	CTG	CSPG5	-	pfam_Chon_Sulph_att	ENSG00000114646		0.637	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	HGNC	protein_coding	OTTHUMT00000257489.1	-	0.00	45	0	A	NM_006574		47618986	-1	tier1	-	no_errors	ENST00000383738	ensembl	human	known	74_37	missense	30.51	41	18	SNP	1.000	T
CYLC1	1538	genome.wustl.edu	37	X	83128496	83128496	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:83128496T>G	ENST00000329312.4	+	4	817	c.780T>G	c.(778-780)aaT>aaG	p.N260K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	260					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AATCCATAAATTTTGATGCAT	0.308																																																	0													39.0	37.0	38.0					X																	83128496		2194	4293	6487	SO:0001583	missense	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.780T>G	X.37:g.83128496T>G	ENSP00000331556:p.Asn260Lys		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.N260K	ENST00000329312.4	37	c.780	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	t	6.894	0.534380	0.13188	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.21361	2.01	4.78	2.27	0.28462	.	.	.	.	.	T	0.09555	0.0235	N	0.11427	0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40701	-0.9549	9	0.14656	T	0.56	0.0035	6.6245	0.22823	0.475:0.0:0.0:0.525	.	260;260	P35663;F5H4V5	CYLC1_HUMAN;.	K	260	ENSP00000331556:N260K	ENSP00000331556:N260K	N	+	3	2	CYLC1	83015152	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.001000	0.12947	0.229000	0.21039	0.430000	0.28490	AAT	CYLC1	-	NULL	ENSG00000183035		0.308	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	-	0.00	28	0	T	NM_021118		83128496	+1	tier1	-	no_errors	ENST00000329312	ensembl	human	known	74_37	missense	13.16	33	5	SNP	0.000	G
CYP1A2	1544	genome.wustl.edu	37	15	75042256	75042256	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:75042256G>T	ENST00000343932.4	+	2	240	c.177G>T	c.(175-177)aaG>aaT	p.K59N		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	59					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CCCTGGGGAAGAACCCGCACC	0.652																																																	0													69.0	68.0	69.0					15																	75042256		2197	4296	6493	SO:0001583	missense	0			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.177G>T	15.37:g.75042256G>T	ENSP00000342007:p.Lys59Asn		Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.K59N	ENST00000343932.4	37	c.177	CCDS32293.1	15	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104452	0.56291	.	.	ENSG00000140505	ENST00000343932	T	0.68765	-0.35	4.96	4.96	0.65561	.	0.148010	0.64402	D	0.000009	T	0.78123	0.4234	M	0.73319	2.225	0.37162	D	0.902645	D	0.57899	0.981	D	0.68621	0.959	T	0.78954	-0.2000	10	0.31617	T	0.26	.	12.7764	0.57451	0.0788:0.0:0.9212:0.0	.	59	P05177-2	.	N	59	ENSP00000342007:K59N	ENSP00000342007:K59N	K	+	3	2	CYP1A2	72829309	0.996000	0.38824	1.000000	0.80357	0.963000	0.63663	1.201000	0.32259	2.573000	0.86826	0.655000	0.94253	AAG	CYP1A2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000140505		0.652	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	HGNC	protein_coding	OTTHUMT00000421263.2	-	0.00	54	0	G	NM_000761		75042256	+1	tier1	-	no_errors	ENST00000343932	ensembl	human	known	74_37	missense	8.20	55	5	SNP	1.000	T
CYP4A22	284541	genome.wustl.edu	37	1	47610628	47610628	+	Missense_Mutation	SNP	G	G	A	rs375392496		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:47610628G>A	ENST00000371891.3	+	9	1239	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R403H|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R305H|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	403						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGATGGGCGCTCCTTGCCC	0.572																																					Pancreas(88;1240 1470 2099 14214 37557)												0								G	HIS/ARG	0,4406		0,0,2203	99.0	88.0	92.0		1208	1.8	0.9	1		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP4A22	NM_001010969.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	403/520	47610628	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1208G>A	1.37:g.47610628G>A	ENSP00000360958:p.Arg403His		Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.R403H	ENST00000371891.3	37	c.1208	CCDS30707.1	1	.	.	.	.	.	.	.	.	.	.	g	13.98	2.398655	0.42512	0.0	1.16E-4	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.68765	-0.35;-0.35;-0.35	1.83	1.83	0.25207	.	0.097903	0.64402	D	0.000002	T	0.58424	0.2121	L	0.33792	1.035	0.38310	D	0.943231	P;P	0.43231	0.801;0.624	P;B	0.47827	0.558;0.167	T	0.61768	-0.6995	10	0.59425	D	0.04	.	7.5674	0.27887	0.1399:0.0:0.8601:0.0	.	305;403	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	H	305;403;403	ENSP00000360957:R305H;ENSP00000360958:R403H;ENSP00000294337:R403H	ENSP00000294337:R403H	R	+	2	0	CYP4A22	47383215	0.677000	0.27577	0.894000	0.35097	0.382000	0.30200	3.223000	0.51231	1.024000	0.39682	0.194000	0.17425	CGC	CYP4A22	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000162365		0.572	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	HGNC	protein_coding	OTTHUMT00000021635.1	-	0.00	48	0	G	XM_208213		47610628	+1	tier1	-	no_errors	ENST00000371891	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.844	A
DAW1	164781	genome.wustl.edu	37	2	228750092	228750092	+	Silent	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:228750092T>C	ENST00000309931.2	+	2	149	c.66T>C	c.(64-66)caT>caC	p.H22H	DAW1_ENST00000545118.1_Silent_p.H7H|SNORA25_ENST00000607153.1_RNA|DAW1_ENST00000373666.2_Silent_p.H22H	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	22						cilium (GO:0005929)											ATGAAAAACATGGAGAATTAA	0.348																																																	0													106.0	115.0	112.0					2																	228750092		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.66T>C	2.37:g.228750092T>C			Q6ZRY1|Q8N776	Silent	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.H22	ENST00000309931.2	37	c.66	CCDS2470.1	2																																																																																			DAW1	-	NULL	ENSG00000123977		0.348	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAW1	HGNC	protein_coding	OTTHUMT00000331745.1	-	0.00	78	0	T	NM_178821		228750092	+1	tier1	-	no_errors	ENST00000309931	ensembl	human	known	74_37	silent	16.36	46	9	SNP	0.084	C
DCAF12L2	340578	genome.wustl.edu	37	X	125298805	125298805	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:125298805C>A	ENST00000360028.2	-	1	1129	c.1103G>T	c.(1102-1104)gGc>gTc	p.G368V	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G368V			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	368										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGAACCATGGCCGGTGCCCAC	0.652																																																	0													55.0	60.0	59.0					X																	125298805		2203	4300	6503	SO:0001583	missense	0			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1103G>T	X.37:g.125298805C>A	ENSP00000353128:p.Gly368Val		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G368V	ENST00000360028.2	37	c.1103	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212731	0.58452	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.64260	-0.09;-0.09	4.05	3.16	0.36331	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36778	N	0.002412	T	0.75474	0.3854	M	0.84082	2.675	0.80722	D	1	D	0.69078	0.997	P	0.62435	0.902	T	0.77003	-0.2749	10	0.54805	T	0.06	.	10.1414	0.42738	0.2006:0.7994:0.0:0.0	.	368	Q5VW00	DC122_HUMAN	V	368	ENSP00000441489:G368V;ENSP00000353128:G368V	ENSP00000353128:G368V	G	-	2	0	DCAF12L2	125126486	1.000000	0.71417	0.858000	0.33744	0.943000	0.58893	6.257000	0.72480	1.022000	0.39626	0.544000	0.68410	GGC	DCAF12L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198354		0.652	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	-	0.00	36	0	C	NM_001013628		125298805	-1	tier1	-	no_errors	ENST00000360028	ensembl	human	known	74_37	missense	87.50	3	21	SNP	1.000	A
DCLK1	9201	genome.wustl.edu	37	13	36362405	36362405	+	Intron	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:36362405G>A	ENST00000360631.3	-	16	2270				DCLK1_ENST00000255448.4_Silent_p.T692T|DCLK1_ENST00000379893.1_Intron			O15075	DCLK1_HUMAN	doublecortin-like kinase 1						axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATCTCTTGATGGTAAACCCGT	0.468																																																	0													244.0	200.0	215.0					13																	36362405		2203	4300	6503	SO:0001627	intron_variant	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.2058+5097C>T	13.37:g.36362405G>A			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.T692	ENST00000360631.3	37	c.2076		13																																																																																			DCLK1	-	superfamily_Kinase-like_dom	ENSG00000133083		0.468	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	-	0.00	55	0	G	NM_004734		36362405	-1	tier1	-	no_errors	ENST00000255448	ensembl	human	known	74_37	silent	7.41	50	4	SNP	1.000	A
DDI1	414301	genome.wustl.edu	37	11	103908168	103908168	+	Silent	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:103908168G>T	ENST00000302259.3	+	1	861	c.618G>T	c.(616-618)ctG>ctT	p.L206L	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	206							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCGACCCACTGGATCGGGAAG	0.507																																																	0													69.0	78.0	75.0					11																	103908168		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.618G>T	11.37:g.103908168G>T			Q7Z4U6|Q8WTS3	Silent	SNP	pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.L206	ENST00000302259.3	37	c.618	CCDS31660.1	11																																																																																			DDI1	-	NULL	ENSG00000170967		0.507	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1	-	0.00	31	0	G	NM_001001711		103908168	+1	tier1	-	no_errors	ENST00000302259	ensembl	human	known	74_37	silent	31.03	20	9	SNP	0.992	T
DFNA5	1687	genome.wustl.edu	37	7	24789377	24789377	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:24789377G>A	ENST00000342947.3	-	2	442	c.17C>T	c.(16-18)aCc>aTc	p.T6I	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.T6I|DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000409970.1_Intron	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	6					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AAAATTCCTGGTTGCTTTGGC	0.338																																					GBM(78;184 1250 20134 20900 23600)												0													92.0	98.0	96.0					7																	24789377		2203	4300	6503	SO:0001583	missense	0			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.17C>T	7.37:g.24789377G>A	ENSP00000339587:p.Thr6Ile		A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	pfam_Gasdermin	p.T6I	ENST00000342947.3	37	c.17	CCDS5389.1	7	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531593	0.85706	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.33216	1.42;1.42	5.54	5.54	0.83059	.	0.089523	0.85682	D	0.000000	T	0.61073	0.2318	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65142	-0.6240	10	0.87932	D	0	-15.4332	19.4795	0.95003	0.0:0.0:1.0:0.0	.	6;6	A4FTY0;O60443	.;DFNA5_HUMAN	I	6	ENSP00000339587:T6I;ENSP00000386670:T6I	ENSP00000339587:T6I	T	-	2	0	DFNA5	24755902	1.000000	0.71417	0.992000	0.48379	0.900000	0.52787	8.335000	0.90031	2.606000	0.88127	0.655000	0.94253	ACC	DFNA5	-	pfam_Gasdermin	ENSG00000105928		0.338	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNA5	HGNC	protein_coding	OTTHUMT00000214060.2	-	0.00	33	0	G	NM_004403		24789377	-1	tier1	-	no_errors	ENST00000342947	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	A
DGKD	8527	genome.wustl.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)tggfs	p.W853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.W809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579																																																	0																																										SO:0001589	frameshift_variant	0			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2564dupG	2.37:g.234365958_234365958dupG	ENSP00000264057:p.Trp853fs		Q14158|Q6PK55|Q8NG53	Frame_Shift_Ins	INS	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.T856fs	ENST00000264057.2	37	c.2557_2558	CCDS2504.1	2																																																																																			DGKD	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000077044		0.579	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2		0.00	35	0	-	NM_003648		234365952	+1	tier1		no_errors	ENST00000264057	ensembl	human	known	74_37	frame_shift_ins	10.00	27	3	INS	1.000:1.000	G
DIRC2	84925	genome.wustl.edu	37	3	122564698	122564698	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:122564698A>T	ENST00000261038.5	+	5	1320	c.922A>T	c.(922-924)Aca>Tca	p.T308S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	308					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CTTAATTTTAACACCAGCGCA	0.338																																																	0													102.0	90.0	94.0					3																	122564698		2203	4300	6503	SO:0001583	missense	0			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.922A>T	3.37:g.122564698A>T	ENSP00000261038:p.Thr308Ser		A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.T308S	ENST00000261038.5	37	c.922	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	A	12.12	1.841621	0.32513	.	.	ENSG00000138463	ENST00000261038	T	0.58797	0.31	5.38	5.38	0.77491	Major facilitator superfamily domain, general substrate transporter (1);	0.093036	0.85682	D	0.000000	T	0.41419	0.1158	N	0.25485	0.75	0.58432	D	0.999992	B	0.22346	0.068	B	0.22753	0.041	T	0.27971	-1.0058	10	0.08381	T	0.77	.	12.7561	0.57336	1.0:0.0:0.0:0.0	.	308	Q96SL1	DIRC2_HUMAN	S	308	ENSP00000261038:T308S	ENSP00000261038:T308S	T	+	1	0	DIRC2	124047388	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.529000	0.81952	2.035000	0.60131	0.528000	0.53228	ACA	DIRC2	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000138463		0.338	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	-	0.00	59	0	A	NM_032839		122564698	+1	tier1	-	no_errors	ENST00000261038	ensembl	human	known	74_37	missense	37.10	39	23	SNP	1.000	T
DKC1	1736	genome.wustl.edu	37	X	153994770	153994771	+	Intron	INS	-	-	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:153994770_153994771insA	ENST00000369550.5	+	5	658				SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin						cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTCATTAAGAAAAAAAAAAA	0.421									Congenital Dyskeratosis																																								0																																										SO:0001627	intron_variant	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.448+95->A	X.37:g.153994781_153994781dupA			F5BSB3|O43845|Q96G67|Q9Y505	RNA	INS	-	NULL	ENST00000369550.5	37	NULL	CCDS14761.1	X																																																																																			DKC1	-	-	ENSG00000130826		0.421	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	HGNC	protein_coding	OTTHUMT00000061180.5		0.00	8	0	-	NM_001363		153994771	+1	tier1		no_errors	ENST00000473552	ensembl	human	known	74_37	rna	28.57	10	4	INS	0.000:0.000	A
DLC1	10395	genome.wustl.edu	37	8	13357027	13357027	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:13357027T>A	ENST00000276297.4	-	2	963	c.554A>T	c.(553-555)gAc>gTc	p.D185V	DLC1_ENST00000316609.5_Missense_Mutation_p.D185V|DLC1_ENST00000511869.1_Missense_Mutation_p.D185V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	185					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						ACTTATAGAGTCAGTAACTTT	0.378																																																	0													118.0	123.0	121.0					8																	13357027		2203	4299	6502	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.554A>T	8.37:g.13357027T>A	ENSP00000276297:p.Asp185Val		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.D185V	ENST00000276297.4	37	c.554	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	T	8.625	0.892379	0.17613	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.28895	1.59;1.59;1.59	5.12	1.51	0.23008	.	0.454923	0.18635	N	0.135479	T	0.37732	0.1014	L	0.43923	1.385	0.22896	N	0.998593	P;D;P	0.63880	0.853;0.993;0.664	P;P;B	0.59424	0.628;0.857;0.216	T	0.10245	-1.0638	10	0.72032	D	0.01	.	7.768	0.28991	0.0:0.4008:0.0:0.5992	.	185;185;185	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	V	185	ENSP00000276297:D185V;ENSP00000321034:D185V;ENSP00000425878:D185V	ENSP00000276297:D185V	D	-	2	0	DLC1	13401398	0.068000	0.21057	0.033000	0.17914	0.027000	0.11550	0.934000	0.28910	0.493000	0.27837	-0.264000	0.10439	GAC	DLC1	-	NULL	ENSG00000164741		0.378	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2		0.00	33	0	T	NM_182643, NM_006094		13357027	-1			no_errors	ENST00000276297	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.042	A
DMXL1	1657	genome.wustl.edu	37	5	118506593	118506595	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:118506593_118506595delTTC	ENST00000311085.8	+	24	6187_6189	c.6107_6109delTTC	c.(6106-6111)attctc>atc	p.L2037del	DMXL1_ENST00000539542.1_In_Frame_Del_p.L2037del	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2037										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGTTTAAAGATTCTCACAGTAGA	0.345																																																	0																																										SO:0001651	inframe_deletion	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6107_6109delTTC	5.37:g.118506593_118506595delTTC	ENSP00000309690:p.Leu2037del			In_Frame_Del	DEL	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2037in_frame_del	ENST00000311085.8	37	c.6107_6109	CCDS4125.1	5																																																																																			DMXL1	-	NULL	ENSG00000172869		0.345	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1		0.00	49	0	TTC	NM_005509		118506595	+1	tier1		no_errors	ENST00000539542	ensembl	human	known	74_37	in_frame_del	16.07	47	9	DEL	1.000:1.000:1.000	-
DNAH1	25981	genome.wustl.edu	37	3	52433140	52433140	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:52433140G>A	ENST00000420323.2	+	76	12625	c.12364G>A	c.(12364-12366)Gct>Act	p.A4122T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4187					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCCCCCAGGCTTTCTTAAC	0.527																																																	0													309.0	309.0	309.0					3																	52433140		1914	4121	6035	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12364G>A	3.37:g.52433140G>A	ENSP00000401514:p.Ala4122Thr		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.A4122T	ENST00000420323.2	37	c.12364	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738809	0.89573	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.11169	2.8	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000005	T	0.37919	0.1021	M	0.82323	2.585	0.58432	D	0.999998	D;D	0.89917	1.0;0.986	D;P	0.91635	0.999;0.843	T	0.38887	-0.9640	10	0.87932	D	0	.	17.746	0.88421	0.0:0.0:1.0:0.0	.	4122;4187	C9JXH6;Q9P2D7-2	.;.	T	4122;875	ENSP00000401514:A4122T	ENSP00000273600:A875T	A	+	1	0	DNAH1	52408180	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.411000	0.73298	2.506000	0.84524	0.655000	0.94253	GCT	DNAH1	-	pfam_Dynein_heavy_dom	ENSG00000114841		0.527	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	-	0.00	66	0	G	NM_015512		52433140	+1	tier1	-	no_errors	ENST00000420323	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A
DNAH14	127602	genome.wustl.edu	37	1	225270265	225270265	+	Intron	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:225270265G>A	ENST00000445597.2	+	15	2938				DNAH14_ENST00000430092.1_Missense_Mutation_p.D1051N|DNAH14_ENST00000439375.2_Missense_Mutation_p.D1051N			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14						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						ACCTAAAAGCGATATGGTAAC	0.328																																																	0													47.0	42.0	44.0					1																	225270265		692	1591	2283	SO:0001627	intron_variant	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.2938+1815G>A	1.37:g.225270265G>A			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.D1051N	ENST00000445597.2	37	c.3151		1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.893057	0.00522	.	.	ENSG00000185842	ENST00000430092;ENST00000439375;ENST00000328556	T;T;T	0.61040	0.14;0.14;0.14	5.31	2.07	0.26955	.	.	.	.	.	T	0.26810	0.0656	N	0.02721	-0.515	0.09310	N	1	B	0.24132	0.098	B	0.18871	0.023	T	0.16041	-1.0416	9	0.23302	T	0.38	.	4.595	0.12325	0.3397:0.0:0.501:0.1593	.	1051	Q0VDD8-4	.	N	1051;1051;129	ENSP00000414402:D1051N;ENSP00000392061:D1051N;ENSP00000332424:D129N	ENSP00000332424:D129N	D	+	1	0	DNAH14	223336888	0.113000	0.22115	0.015000	0.15790	0.131000	0.20780	0.786000	0.26844	0.626000	0.30322	0.603000	0.83216	GAT	DNAH14	-	pfam_Dynein_heavy_dom-2	ENSG00000185842		0.328	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	-	0.00	73	0	G	XM_059166		225270265	+1	tier1	-	no_errors	ENST00000430092	ensembl	human	known	74_37	missense	33.33	44	22	SNP	0.007	A
DNAH14	127602	genome.wustl.edu	37	1	225273407	225273407	+	Silent	SNP	T	T	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:225273407T>A	ENST00000445597.2	+	16	2967	c.2967T>A	c.(2965-2967)tcT>tcA	p.S989S	DNAH14_ENST00000430092.1_Silent_p.S1163S|DNAH14_ENST00000439375.2_Silent_p.S1163S			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	989					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						TAATTCCATCTATAGATGACA	0.343																																																	0													107.0	88.0	93.0					1																	225273407		692	1587	2279	SO:0001819	synonymous_variant	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.2967T>A	1.37:g.225273407T>A			A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.S1163	ENST00000445597.2	37	c.3489		1																																																																																			DNAH14	-	pfam_Dynein_heavy_dom-2	ENSG00000185842		0.343	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	-	0.00	62	0	T	XM_059166		225273407	+1	tier1	-	no_errors	ENST00000430092	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.001	A
DNAH6	1768	genome.wustl.edu	37	2	84897535	84897535	+	Silent	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:84897535T>C	ENST00000237449.6	+	38	6398	c.6390T>C	c.(6388-6390)acT>acC	p.T2130T	DNAH6_ENST00000602588.1_Silent_p.T151T|DNAH6_ENST00000389394.3_Silent_p.T2130T|DNAH6_ENST00000398278.2_Silent_p.T2130T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2130	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTGCTCAAACTTCATCTGCAA	0.308																																																	0													91.0	83.0	86.0					2																	84897535		692	1588	2280	SO:0001819	synonymous_variant	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.6390T>C	2.37:g.84897535T>C			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T2130	ENST00000237449.6	37	c.6390	CCDS46348.1	2																																																																																			DNAH6	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000115423		0.308	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0.00	36	0	T	NM_001370		84897535	+1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	silent	39.13	14	9	SNP	0.945	C
DNAJC10	54431	genome.wustl.edu	37	2	183621088	183621088	+	Silent	SNP	C	C	T	rs150626904	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:183621088C>T	ENST00000264065.7	+	18	2116	c.1701C>T	c.(1699-1701)aaC>aaT	p.N567N		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	567	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CCACCTTCAACGAACTAGTTA	0.388													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15728	0.0		0.0	False		,,,				2504	0.0				Pancreas(56;860 1183 25669 35822 48585)												0								C		5,4401	9.9+/-24.2	0,5,2198	129.0	119.0	122.0		1701	-2.0	1.0	2	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	DNAJC10	NM_018981.1		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		567/794	183621088	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1701C>T	2.37:g.183621088C>T			Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin	p.N567	ENST00000264065.7	37	c.1701	CCDS33345.1	2																																																																																			DNAJC10	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C	ENSG00000077232		0.388	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	HGNC	protein_coding	OTTHUMT00000334418.2	-	0.00	51	0	C	NM_018981		183621088	+1	tier1	rs150626904	no_errors	ENST00000264065	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.959	T
DNAJC13	23317	genome.wustl.edu	37	3	132244576	132244576	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:132244576G>T	ENST00000260818.6	+	52	6431	c.6183G>T	c.(6181-6183)agG>agT	p.R2061S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2061					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGAATCATAGGAACAATGCCA	0.448																																																	0													127.0	123.0	124.0					3																	132244576		2203	4300	6503	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6183G>T	3.37:g.132244576G>T	ENSP00000260818:p.Arg2061Ser		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.R2061S	ENST00000260818.6	37	c.6183	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284416	0.23392	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.45276	0.9	5.98	0.553	0.17235	Armadillo-like helical (1);Armadillo-type fold (1);	0.104671	0.64402	D	0.000004	T	0.17831	0.0428	N	0.08118	0	0.38589	D	0.95037	B	0.14012	0.009	B	0.14578	0.011	T	0.22417	-1.0217	10	0.07482	T	0.82	.	10.0221	0.42048	0.3708:0.0:0.6292:0.0	.	2061	O75165	DJC13_HUMAN	S	2061;708	ENSP00000260818:R2061S	ENSP00000260818:R2061S	R	+	3	2	DNAJC13	133727266	1.000000	0.71417	0.983000	0.44433	0.695000	0.40330	1.464000	0.35288	-0.182000	0.10602	-0.194000	0.12790	AGG	DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.448	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2		0.00	53	0	G	NM_015268		132244576	+1			no_errors	ENST00000260818	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
DNMT3A	1788	genome.wustl.edu	37	2	25463510	25463510	+	Splice_Site	SNP	G	G	A	rs559412770		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:25463510G>A	ENST00000264709.3	-	18	2509	c.2172C>T	c.(2170-2172)taC>taT	p.Y724Y	DNMT3A_ENST00000380746.4_Splice_Site_p.Y535Y|DNMT3A_ENST00000321117.5_Splice_Site_p.Y724Y|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Splice_Site_p.Y501Y	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	724	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTACCTACCGTAGAGGCCCT	0.577			"""Mis, F, N, S"""		AML								G|||	1	0.000199681	0.0	0.0014	5008	,	,		19878	0.0		0.0	False		,,,				2504	0.0							Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													136.0	113.0	121.0					2																	25463510		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2173+1C>T	2.37:g.25463510G>A			E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.Y724	ENST00000264709.3	37	c.2172	CCDS33157.1	2																																																																																			DNMT3A	-	pfam_C5_MeTfrase	ENSG00000119772		0.577	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	-	0.00	62	0	G	NM_022552	Silent	25463510	-1	tier1	-	no_errors	ENST00000264709	ensembl	human	known	74_37	silent	13.64	38	6	SNP	0.776	A
DYNC1H1	1778	genome.wustl.edu	37	14	102461351	102461351	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:102461351A>G	ENST00000360184.4	+	14	3526	c.3362A>G	c.(3361-3363)gAc>gGc	p.D1121G		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1121	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTGAAATATGACTCTTGGCAT	0.418																																																	0													109.0	98.0	102.0					14																	102461351		2203	4300	6503	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3362A>G	14.37:g.102461351A>G	ENSP00000348965:p.Asp1121Gly		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.D1121G	ENST00000360184.4	37	c.3362	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	A	29.3	4.992987	0.93167	.	.	ENSG00000197102	ENST00000360184	T	0.81247	-1.47	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.91727	0.7384	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.93256	0.6639	10	0.66056	D	0.02	.	16.2109	0.82158	1.0:0.0:0.0:0.0	.	1121	Q14204	DYHC1_HUMAN	G	1121	ENSP00000348965:D1121G	ENSP00000348965:D1121G	D	+	2	0	DYNC1H1	101531104	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.332000	0.96446	2.230000	0.72887	0.455000	0.32223	GAC	DYNC1H1	-	NULL	ENSG00000197102		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0.00	43	0	A	NM_001376		102461351	+1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	7.55	47	4	SNP	1.000	G
EBF2	64641	genome.wustl.edu	37	8	25715895	25715895	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:25715895A>C	ENST00000520164.1	-	14	2005	c.1468T>G	c.(1468-1470)Ttg>Gtg	p.L490V	EBF2_ENST00000408929.3_Missense_Mutation_p.L342V|EBF2_ENST00000535548.1_Missense_Mutation_p.L221V	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	490	Pro/Ser/Thr-rich.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGAACACCCAAGTTGGCCATG	0.507																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												0													145.0	146.0	146.0					8																	25715895		1998	4164	6162	SO:0001583	missense	0			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1468T>G	8.37:g.25715895A>C	ENSP00000430241:p.Leu490Val		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.L490V	ENST00000520164.1	37	c.1468	CCDS43726.1	8	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329936	0.41297	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.51325	0.71;0.71;0.71	5.43	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.70595	2.14	0.51233	D	0.999916	D	0.59357	0.985	P	0.57244	0.816	T	0.58509	-0.7624	10	0.41790	T	0.15	-7.2081	11.3962	0.49843	0.1476:0.0:0.8524:0.0	.	490	Q9HAK2	COE2_HUMAN	V	490;342;221	ENSP00000430241:L490V;ENSP00000386178:L342V;ENSP00000437909:L221V	ENSP00000386178:L342V	L	-	1	2	EBF2	25771812	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	4.945000	0.63568	0.664000	0.31047	-0.797000	0.03246	TTG	EBF2	-	NULL	ENSG00000221818		0.507	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	-	0.00	74	0	A	NM_022659		25715895	-1	tier1	-	no_errors	ENST00000520164	ensembl	human	known	74_37	missense	55.00	18	22	SNP	1.000	C
EDEM2	55741	genome.wustl.edu	37	20	33719456	33719456	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:33719456G>A	ENST00000374492.3	-	7	938	c.833C>T	c.(832-834)gCc>gTc	p.A278V	EDEM2_ENST00000374491.3_Missense_Mutation_p.A241V|EDEM2_ENST00000541621.1_Missense_Mutation_p.A57V|EDEM2_ENST00000542871.1_Missense_Mutation_p.A2V|EDEM2_ENST00000540582.1_Missense_Mutation_p.A237V	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	278					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TAGGAACATGGCCATGAGCTT	0.468																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0													168.0	186.0	180.0					20																	33719456		2203	4300	6503	SO:0001583	missense	0			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.833C>T	20.37:g.33719456G>A	ENSP00000363616:p.Ala278Val		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.A278V	ENST00000374492.3	37	c.833	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199371	0.58126	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871;ENST00000540582	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	6.01	6.01	0.97437	.	0.239229	0.50627	D	0.000116	T	0.45836	0.1362	L	0.52905	1.665	0.35830	D	0.82527	B;B;B;B	0.16166	0.016;0.008;0.005;0.007	B;B;B;B	0.25884	0.064;0.012;0.012;0.02	T	0.44997	-0.9291	10	0.39692	T	0.17	-17.1251	20.5211	0.99222	0.0:0.0:1.0:0.0	.	237;57;241;278	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	V	241;278;57;2;237	ENSP00000363615:A241V;ENSP00000363616:A278V;ENSP00000443528:A57V;ENSP00000441642:A2V;ENSP00000441548:A237V	ENSP00000363615:A241V	A	-	2	0	EDEM2	33183117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.332000	0.59279	2.861000	0.98227	0.650000	0.86243	GCC	EDEM2	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000088298		0.468	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	-	0.00	56	0	G	NM_018217		33719456	-1	tier1	-	no_errors	ENST00000374492	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A
EMR4P	326342	genome.wustl.edu	37	19	6981138	6981138	+	RNA	SNP	G	G	A	rs368400149		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:6981138G>A	ENST00000600751.1	-	0	541					NR_024075.1		Q86SQ3	EMR4_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 4 pseudogene						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)										AGCAAAACTCGCATTCCAGAT	0.408																																																	0													89.0	81.0	83.0					19																	6981138		1854	4098	5952			0			AY181245		19p13.2	2014-08-08	2008-06-06	2008-06-06	ENSG00000268758	ENSG00000268758		"""-"", ""GPCR / Class B : Orphans"""	19240	pseudogene	pseudogene		612305	"""G protein-coupled receptor 127"", ""egf-like module containing, mucin-like, hormone receptor-like 4"""	GPR127, EMR4		12565841	Standard	NR_024075		Approved	PGR16	uc010xjk.2	Q86SQ3	OTTHUMG00000177251		19.37:g.6981138G>A			Q86SP1	RNA	SNP	-	NULL	ENST00000600751.1	37	NULL		19																																																																																			EMR4P	-	-	ENSG00000268758		0.408	EMR4P-002	KNOWN	basic	processed_transcript	EMR4P	HGNC	pseudogene	OTTHUMT00000436007.1	-	0.00	52	0	G	NR_024075		6981138	-1	tier1	-	no_errors	ENST00000600751	ensembl	human	known	74_37	rna	23.53	13	4	SNP	0.000	A
ENPP3	5169	genome.wustl.edu	37	6	132004266	132004266	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:132004266C>T	ENST00000414305.1	+	13	1412	c.1084C>T	c.(1084-1086)Cac>Tac	p.H362Y	ENPP3_ENST00000357639.3_Missense_Mutation_p.H362Y|ENPP3_ENST00000358229.5_Missense_Mutation_p.H362Y			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	362	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GCGGAATTTGCACAACTGTGT	0.343																																																	0													209.0	194.0	199.0					6																	132004266		2203	4300	6503	SO:0001583	missense	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1084C>T	6.37:g.132004266C>T	ENSP00000406261:p.His362Tyr		Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.H362Y	ENST00000414305.1	37	c.1084	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043195	0.75732	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.71934	-0.61;-0.61;-0.61	5.7	3.9	0.45041	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.329726	0.28865	N	0.013884	T	0.68375	0.2994	L	0.39397	1.21	0.80722	D	1	P	0.50272	0.933	P	0.57009	0.811	T	0.73212	-0.4054	10	0.66056	D	0.02	-0.9384	17.7126	0.88326	0.0:0.8555:0.1445:0.0	.	362	O14638	ENPP3_HUMAN	Y	362	ENSP00000406261:H362Y;ENSP00000350265:H362Y;ENSP00000350964:H362Y	ENSP00000350265:H362Y	H	+	1	0	ENPP3	132045959	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.653000	0.54446	0.724000	0.32296	0.650000	0.86243	CAC	ENPP3	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000154269		0.343	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2		0.00	56	0	C			132004266	+1			no_errors	ENST00000357639	ensembl	human	known	74_37	missense	5.97	62	4	SNP	1.000	T
AL355390.1	0	genome.wustl.edu	37	13	74988982	74988982	+	Silent	SNP	A	A	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:74988982A>T	ENST00000325811.1	-	2	439	c.135T>A	c.(133-135)tcT>tcA	p.S45S																								AGTAGCAGGAAGAGAATGTCT	0.458																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000325811.1:c.135T>A	13.37:g.74988982A>T				Silent	SNP	NULL	p.S45	ENST00000325811.1	37	c.135		13																																																																																			AL355390.1	-	NULL	ENSG00000177596		0.458	AL355390.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000177596	Clone_based_ensembl_gene	protein_coding			0.00	28	0	A			74988982	-1			no_errors	ENST00000325811	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.000	T
ZNF793	390927	genome.wustl.edu	37	19	38039247	38039247	+	RNA	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:38039247G>T	ENST00000316807.2	-	0	391				ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000592575.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA																							CTTAGTCCTCGTTCCCGCCTT	0.572																																																	0																																												0																															19.37:g.38039247G>T				RNA	SNP	-	NULL	ENST00000316807.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	G	6.605	0.479931	0.12581	.	.	ENSG00000180458	ENST00000316807	.	.	.	0.493	0.493	0.16878	.	.	.	.	.	T	0.40645	0.1125	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39440	-0.9614	4	0.87932	D	0	.	.	.	.	.	.	.	.	K	107	.	ENSP00000324876:T107K	T	-	2	0	AC022148.1	42731087	0.012000	0.17670	0.004000	0.12327	0.004000	0.04260	-0.592000	0.05747	0.508000	0.28173	0.511000	0.50034	ACG	CTD-3064H18.4	-	-	ENSG00000180458		0.572	CTD-3064H18.4-001	KNOWN	basic	antisense	ENSG00000180458	Clone_based_vega_gene	antisense	OTTHUMT00000458665.1	-	0.00	46	0	G			38039247	-1	tier1	-	no_errors	ENST00000316807	ensembl	human	known	74_37	rna	11.54	23	3	SNP	0.004	T
GS1-256O22.5	0	genome.wustl.edu	37	X	142534050	142534050	+	RNA	SNP	A	A	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:142534050A>C	ENST00000431432.1	+	0	268				AL030997.1_ENST00000408578.1_RNA																							ttttagcataagtgtgtccca	0.284																																																	0																																												0																															X.37:g.142534050A>C				RNA	SNP	-	NULL	ENST00000431432.1	37	NULL		X																																																																																			AL030997.1	-	-	ENSG00000221505		0.284	GS1-256O22.5-001	KNOWN	basic	antisense	ENSG00000221505	Clone_based_ensembl_gene	antisense	OTTHUMT00000058622.1	-	0.00	48	0	A			142534050	-1	tier1	-	no_errors	ENST00000408578	ensembl	human	novel	74_37	rna	11.11	40	5	SNP	0.015	C
CNIH3	149111	genome.wustl.edu	37	1	224918091	224918091	+	Intron	SNP	A	A	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:224918091A>C	ENST00000272133.3	+	4	1080				RP11-3L21.2_ENST00000431691.1_RNA	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3						intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TCCAGGCAGAAGTCAGCTGCC	0.547																																																	0																																										SO:0001627	intron_variant	0			AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.199-73A>C	1.37:g.224918091A>C				RNA	SNP	-	NULL	ENST00000272133.3	37	NULL	CCDS1544.1	1																																																																																			RP11-3L21.2	-	-	ENSG00000229400		0.547	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000229400	Clone_based_vega_gene	protein_coding	OTTHUMT00000091752.2	-	0.00	36	0	A	NM_152495		224918091	-1	tier1	-	no_errors	ENST00000431691	ensembl	human	known	74_37	rna	41.38	17	12	SNP	0.008	C
ANKRD42	338699	genome.wustl.edu	37	11	82920887	82920887	+	Intron	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:82920887C>T	ENST00000393392.2	+	4	408				RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Intron|ANKRD42_ENST00000533342.1_Intron|ANKRD42_ENST00000393389.3_Intron|ANKRD42_ENST00000526731.1_Intron|ANKRD42_ENST00000528722.1_Intron|ANKRD42_ENST00000260047.6_Intron	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42						positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCTCTGTGGACCCACAGCCTC	0.493																																																	0																																										SO:0001627	intron_variant	0			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.247-455C>T	11.37:g.82920887C>T			Q49A49	RNA	SNP	-	NULL	ENST00000393392.2	37	NULL	CCDS8265.1	11																																																																																			RP11-727A23.7	-	-	ENSG00000254551		0.493	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ENSG00000254551	Clone_based_vega_gene	protein_coding	OTTHUMT00000392934.1	-	0.00	56	0	C	NM_182603		82920887	-1	tier1	-	no_errors	ENST00000531869	ensembl	human	known	74_37	rna	23.81	16	5	SNP	0.829	T
PPP1R3E	90673	genome.wustl.edu	37	14	23764733	23764733	+	IGR	DEL	A	A	-			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:23764733delA	ENST00000452015.4	-	0	4773				PPP1R3E_ENST00000561426.1_5'Flank|HOMEZ_ENST00000431326.2_5'Flank|HOMEZ_ENST00000561013.1_Intron|RP11-124D2.7_ENST00000604456.1_RNA	NM_001276318.1	NP_001263247.1	Q9H7J1	PPR3E_HUMAN	protein phosphatase 1, regulatory subunit 3E						glycogen metabolic process (GO:0005977)												CTTCATTCTTAAAAAAAAAAA	0.403																																																	0																																										SO:0001628	intergenic_variant	0			AK024489	CCDS61403.1	14q11.2	2013-01-29	2011-10-04		ENSG00000235194	ENSG00000235194		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14943	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3E"""			11948623, 15752363	Standard	NM_001276318		Approved	FLJ00089	uc031qns.1	Q9H7J1	OTTHUMG00000172116		14.37:g.23764733delA			D3DS47	RNA	DEL	-	NULL	ENST00000452015.4	37	NULL		14																																																																																			RP11-124D2.7	-	-	ENSG00000270433		0.403	PPP1R3E-001	KNOWN	NMD_exception|basic|appris_principal|readthrough_transcript	protein_coding	ENSG00000270433	Clone_based_vega_gene	protein_coding	OTTHUMT00000416883.2		0.00	37	0	A			23764733	+1	tier1		no_errors	ENST00000604456	ensembl	human	known	74_37	rna	9.09	20	2	DEL	0.835	-
C12orf43	64897	genome.wustl.edu	37	12	121439044	121439044	+	IGR	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:121439044G>T	ENST00000288757.3	-	0	1920				RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_3'UTR|HNF1A_ENST00000544413.1_3'UTR|HNF1A_ENST00000257555.6_3'UTR	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGGGGTGATGAGGGCAGCAG	0.652																																																	0													24.0	20.0	21.0					12																	121439044		2203	4299	6502	SO:0001628	intergenic_variant	0			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150		12.37:g.121439044G>T			Q53HF0|Q9H9Z7	RNA	SNP	-	NULL	ENST00000288757.3	37	NULL	CCDS9210.1	12																																																																																			RP11-216P16.2	-	-	ENSG00000271769		0.652	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000271769	Clone_based_vega_gene	protein_coding		-	0.00	45	0	G	NM_022895		121439044	-1	tier1	-	no_errors	ENST00000606238	ensembl	human	known	74_37	rna	19.05	17	4	SNP	0.000	T
ENTPD5	957	genome.wustl.edu	37	14	74439665	74439665	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:74439665G>T	ENST00000334696.6	-	13	1268	c.949C>A	c.(949-951)Cag>Aag	p.Q317K	ENTPD5_ENST00000557325.1_Missense_Mutation_p.Q317K	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	317					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TCCTCTGGCTGGTGAAGTTTT	0.537																																																	0													204.0	202.0	203.0					14																	74439665		2203	4300	6503	SO:0001583	missense	0			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.949C>A	14.37:g.74439665G>T	ENSP00000335246:p.Gln317Lys		A1L4C5|Q96RX0	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.Q317K	ENST00000334696.6	37	c.949	CCDS9825.1	14	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578068	0.65878	.	.	ENSG00000187097	ENST00000557325;ENST00000334696	T;T	0.11169	2.8;2.8	4.95	4.95	0.65309	.	0.189355	0.47455	D	0.000240	T	0.21590	0.0520	L	0.33293	1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.994	T	0.03840	-1.0999	10	0.10377	T	0.69	-4.1041	18.7465	0.91795	0.0:0.0:1.0:0.0	.	317;317	O75356;G3V4I0	ENTP5_HUMAN;.	K	317	ENSP00000451810:Q317K;ENSP00000335246:Q317K	ENSP00000335246:Q317K	Q	-	1	0	ENTPD5	73509418	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.119000	0.77145	2.744000	0.94065	0.563000	0.77884	CAG	ENTPD5	-	pfam_GDA1_CD39_NTPase	ENSG00000187097		0.537	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD5	HGNC	protein_coding	OTTHUMT00000412637.1	-	0.00	35	0	G	NM_001249		74439665	-1	tier1	-	no_errors	ENST00000334696	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T
EPHA3	2042	genome.wustl.edu	37	3	89448604	89448604	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:89448604A>G	ENST00000336596.2	+	7	1793	c.1568A>G	c.(1567-1569)aAg>aGg	p.K523R	EPHA3_ENST00000494014.1_Missense_Mutation_p.K523R|EPHA3_ENST00000452448.2_Missense_Mutation_p.K523R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	523	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AACAGCCGCAAGTTTGAGTTT	0.458										TSP Lung(6;0.00050)																																							0													106.0	99.0	101.0					3																	89448604		2203	4300	6503	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1568A>G	3.37:g.89448604A>G	ENSP00000337451:p.Lys523Arg		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.K523R	ENST00000336596.2	37	c.1568	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562784	0.27915	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.53423	0.62;0.62;0.62	5.53	5.53	0.82687	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.151132	0.64402	D	0.000010	T	0.33498	0.0865	N	0.14661	0.345	0.44181	D	0.996997	P;B	0.35433	0.501;0.356	B;B	0.36922	0.081;0.236	T	0.14811	-1.0459	9	.	.	.	.	15.6643	0.77213	1.0:0.0:0.0:0.0	.	523;523	P29320;P29320-2	EPHA3_HUMAN;.	R	523	ENSP00000337451:K523R;ENSP00000399926:K523R;ENSP00000419190:K523R	.	K	+	2	0	EPHA3	89531294	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.023000	0.57211	2.107000	0.64212	0.460000	0.39030	AAG	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000044524		0.458	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1		0.00	31	0	A	NM_005233		89448604	+1			no_errors	ENST00000336596	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	G
EPHX4	253152	genome.wustl.edu	37	1	92495767	92495767	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:92495767G>A	ENST00000370383.4	+	1	229	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	44						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGAGCCTCGGCAAGGGGCCG	0.677																																					GBM(140;473 1857 5172 22066 49719)												0													20.0	17.0	18.0					1																	92495767		2202	4299	6501	SO:0001583	missense	0			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.131G>A	1.37:g.92495767G>A	ENSP00000359410:p.Gly44Asp		Q8NCC6	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.G44D	ENST00000370383.4	37	c.131	CCDS736.1	1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703280	0.30232	.	.	ENSG00000172031	ENST00000370383	T	0.59364	0.27	3.63	3.63	0.41609	.	0.523471	0.20597	N	0.089235	T	0.31389	0.0795	L	0.44542	1.39	0.34346	D	0.689347	B	0.16396	0.017	B	0.21360	0.034	T	0.20207	-1.0282	10	0.35671	T	0.21	.	10.4819	0.44698	0.0:0.0:0.8054:0.1946	.	44	Q8IUS5	EPHX4_HUMAN	D	44	ENSP00000359410:G44D	ENSP00000359410:G44D	G	+	2	0	EPHX4	92268355	1.000000	0.71417	0.986000	0.45419	0.816000	0.46133	4.534000	0.60622	1.826000	0.53198	0.313000	0.20887	GGC	EPHX4	-	NULL	ENSG00000172031		0.677	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX4	HGNC	protein_coding	OTTHUMT00000027985.1		0.00	68	0	G	NM_173567		92495767	+1			no_errors	ENST00000370383	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.981	A
ERBB2	2064	genome.wustl.edu	37	17	37881000	37881000	+	Missense_Mutation	SNP	G	G	T	rs121913471		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:37881000G>T	ENST00000269571.5	+	20	2488	c.2329G>T	c.(2329-2331)Gtg>Ttg	p.V777L	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.V747L|ERBB2_ENST00000406381.2_Missense_Mutation_p.V747L|ERBB2_ENST00000541774.1_Missense_Mutation_p.V762L|ERBB2_ENST00000445658.2_Missense_Mutation_p.V501L|ERBB2_ENST00000584601.1_Missense_Mutation_p.V747L|ERBB2_ENST00000584450.1_Missense_Mutation_p.V777L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V777L(6)|p.V777M(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GATGGCTGGTGTGGGCTCCCC	0.577		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	7	Substitution - Missense(7)	large_intestine(3)|stomach(2)|lung(1)|breast(1)											91.0	90.0	90.0					17																	37881000		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2329G>T	17.37:g.37881000G>T	ENSP00000269571:p.Val777Leu		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V777L	ENST00000269571.5	37	c.2329	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186331	0.57909	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.19485	0.0468	N	0.00165	-1.945	0.80722	D	1	B;B;B	0.13594	0.003;0.001;0.008	B;B;B	0.15484	0.013;0.002;0.013	T	0.30475	-0.9977	9	0.18710	T	0.47	.	18.5686	0.91126	0.0:0.0:1.0:0.0	.	501;762;777	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	L	747;762;501;777;747	ENSP00000385185:V747L;ENSP00000446466:V762L;ENSP00000404047:V501L;ENSP00000269571:V777L;ENSP00000443562:V747L	ENSP00000269571:V777L	V	+	1	0	ERBB2	35134526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.847000	0.99503	2.478000	0.83669	0.563000	0.77884	GTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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	ENSG00000141736		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0.00	45	0	G			37881000	+1	tier1	rs121913471	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	76.74	10	33	SNP	1.000	T
ERC2	26059	genome.wustl.edu	37	3	55717849	55717849	+	3'UTR	SNP	T	T	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:55717849T>G	ENST00000288221.6	-	0	3141					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)		GAACTTTGGTTTACAGGCCCG	0.478																																																	0													58.0	59.0	59.0					3																	55717849		1859	4107	5966	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.*12A>C	3.37:g.55717849T>G			Q2T9F6|Q86TK4	RNA	SNP	-	NULL	ENST00000288221.6	37	NULL	CCDS46851.1	3																																																																																			ERC2	-	-	ENSG00000187672		0.478	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	-	0.00	33	0	T	NM_015576		55717849	-1	tier1	-	no_errors	ENST00000468118	ensembl	human	known	74_37	rna	17.50	33	7	SNP	1.000	G
ERN1	2081	genome.wustl.edu	37	17	62130146	62130146	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:62130146C>T	ENST00000433197.3	-	17	2342	c.2247G>A	c.(2245-2247)gaG>gaA	p.E749E		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCACAGGGTTCTCCTTACAGT	0.527																																																	0													61.0	58.0	59.0					17																	62130146		1932	4137	6069	SO:0001819	synonymous_variant	0			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2247G>A	17.37:g.62130146C>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.E749	ENST00000433197.3	37	c.2247	CCDS45762.1	17																																																																																			ERN1	-	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	ENSG00000178607		0.527	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2	-	0.00	21	0	C	NM_001433		62130146	-1	tier1	-	no_errors	ENST00000433197	ensembl	human	known	74_37	silent	70.83	7	17	SNP	0.996	T
EVPL	2125	genome.wustl.edu	37	17	74004779	74004779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:74004779G>A	ENST00000301607.3	-	22	4760	c.4507C>T	c.(4507-4509)Cag>Tag	p.Q1503*	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Nonsense_Mutation_p.Q1525*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1503	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ATCTGGACCTGCAGGTTCTTG	0.587																																																	0													188.0	156.0	167.0					17																	74004779		2203	4300	6503	SO:0001587	stop_gained	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4507C>T	17.37:g.74004779G>A	ENSP00000301607:p.Gln1503*		A0AUV5	Nonsense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q1503*	ENST00000301607.3	37	c.4507	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	G	40	8.009261	0.98607	.	.	ENSG00000167880	ENST00000301607	.	.	.	4.88	3.91	0.45181	.	0.294729	0.32987	N	0.005406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-41.9387	14.6851	0.69044	0.0:0.0:0.8534:0.1466	.	.	.	.	X	1503	.	ENSP00000301607:Q1503X	Q	-	1	0	EVPL	71516374	1.000000	0.71417	0.999000	0.59377	0.160000	0.22226	3.974000	0.56852	1.068000	0.40764	-0.219000	0.12488	CAG	EVPL	-	NULL	ENSG00000167880		0.587	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1		0.00	73	0	G	NM_001988		74004779	-1			no_errors	ENST00000301607	ensembl	human	known	74_37	nonsense	8.06	57	5	SNP	0.994	A
F10	2159	genome.wustl.edu	37	13	113803524	113803524	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:113803524G>A	ENST00000375559.3	+	8	1198	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	387	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)	p.R387H(1)		endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	TACGTGGACCGCAACAGCTGC	0.627																																																	1	Substitution - Missense(1)	pancreas(1)	GRCh37	CM054665	F10	M							47.0	50.0	49.0					13																	113803524		2203	4300	6503	SO:0001583	missense	0				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1160G>A	13.37:g.113803524G>A	ENSP00000364709:p.Arg387His		Q14340	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.R387H	ENST00000375559.3	37	c.1160	CCDS9530.1	13	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923031	0.52653	.	.	ENSG00000126218	ENST00000375559	D	0.89415	-2.51	5.37	4.51	0.55191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.132116	0.46442	D	0.000289	D	0.87196	0.6117	N	0.05619	-0.005	0.45366	D	0.998358	D	0.89917	1.0	D	0.91635	0.999	D	0.88134	0.2840	10	0.54805	T	0.06	.	11.2084	0.48784	0.0707:0.1283:0.801:0.0	.	387	P00742	FA10_HUMAN	H	387	ENSP00000364709:R387H	ENSP00000364709:R387H	R	+	2	0	F10	112851525	0.998000	0.40836	0.834000	0.33040	0.121000	0.20230	5.573000	0.67417	1.220000	0.43490	0.650000	0.86243	CGC	F10	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000126218		0.627	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F10	HGNC	protein_coding	OTTHUMT00000045841.3	-	0.00	37	0	G			113803524	+1	tier1	-	no_errors	ENST00000375559	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.825	A
FAM114A1	92689	genome.wustl.edu	37	4	38910270	38910270	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:38910270A>T	ENST00000358869.2	+	7	891	c.715A>T	c.(715-717)Atg>Ttg	p.M239L	FAM114A1_ENST00000515037.1_Missense_Mutation_p.M32L	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	239						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAAGAAAACCATGAATGTCCT	0.438																																																	0													107.0	98.0	101.0					4																	38910270		2203	4300	6503	SO:0001583	missense	0				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.715A>T	4.37:g.38910270A>T	ENSP00000351740:p.Met239Leu		A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	pfam_DUF719	p.M239L	ENST00000358869.2	37	c.715	CCDS3447.1	4	.	.	.	.	.	.	.	.	.	.	A	35	5.522655	0.96431	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.54866	0.55;0.55	6.17	6.17	0.99709	.	0.100079	0.85682	D	0.000000	T	0.75170	0.3813	M	0.84219	2.685	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.76945	-0.2771	10	0.49607	T	0.09	-23.4546	16.8222	0.85835	1.0:0.0:0.0:0.0	.	239	Q8IWE2	NXP20_HUMAN	L	32;239;32	ENSP00000424115:M32L;ENSP00000351740:M239L	ENSP00000347569:M32L	M	+	1	0	FAM114A1	38586665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	ATG	FAM114A1	-	pfam_DUF719	ENSG00000197712		0.438	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A1	HGNC	protein_coding	OTTHUMT00000250436.1	-	0.00	51	0	A	NM_138389		38910270	+1	tier1	-	no_errors	ENST00000358869	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	T
FAM138C	654835	genome.wustl.edu	37	9	35199	35199	+	lincRNA	SNP	A	A	G	rs9408059		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:35199A>G	ENST00000449442.2	-	0	403									family with sequence similarity 138, member C																		tgggaggctgaggtgggagga	0.438																																																	0																																												0					9p24.3	2013-01-30			ENSG00000218839	ENSG00000218839		"""Long non-coding RNAs"""	32333	non-coding RNA	RNA, long non-coding						11779631, 15233989	Standard	NR_026822		Approved	F379	uc003zfv.3		OTTHUMG00000019422		9.37:g.35199A>G				RNA	SNP	-	NULL	ENST00000449442.2	37	NULL		9	.	.	.	.	.	.	.	.	.	.	A	1.738	-0.492428	0.04322	.	.	ENSG00000218839	ENST00000449442;ENST00000305248	.	.	.	0.185	-0.371	0.12525	.	.	.	.	.	T	0.33990	0.0882	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31752	-0.9932	4	0.52906	T	0.07	.	.	.	.	.	.	.	.	P	28	.	ENSP00000303458:S28P	S	-	1	0	FAM138C	25199	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.686000	0.05161	-0.785000	0.04522	-0.782000	0.03352	TCA	FAM138C	-	-	ENSG00000218839		0.438	FAM138C-001	KNOWN	basic	lincRNA	FAM138C	HGNC	lincRNA	OTTHUMT00000051450.2	-	0.00	15	0	A	NR_026822		35199	-1	tier1	-	no_errors	ENST00000305248	ensembl	human	known	74_37	rna	27.78	13	5	SNP	0.000	G
FANCM	57697	genome.wustl.edu	37	14	45642264	45642264	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:45642264G>A	ENST00000267430.5	+	13	2252	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	FANCM_ENST00000542564.2_Missense_Mutation_p.E697K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	723					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						TAAGGCTCAAGAATCAACCAC	0.333								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													83.0	80.0	81.0					14																	45642264		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.2167G>A	14.37:g.45642264G>A	ENSP00000267430:p.Glu723Lys		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.E723K	ENST00000267430.5	37	c.2167	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	G	8.092	0.774832	0.16051	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18502	2.79;2.79;2.21	5.27	4.38	0.52667	.	5.780290	0.00166	N	0.000000	T	0.22475	0.0542	L	0.50919	1.6	0.21325	N	0.999723	B;B	0.24533	0.105;0.085	B;B	0.16289	0.015;0.01	T	0.40365	-0.9567	10	0.27785	T	0.31	.	13.5263	0.61597	0.0755:0.0:0.9245:0.0	.	697;723	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	K	723;697;239	ENSP00000267430:E723K;ENSP00000442493:E697K;ENSP00000452033:E239K	ENSP00000267430:E723K	E	+	1	0	FANCM	44712014	1.000000	0.71417	0.730000	0.30809	0.030000	0.12068	4.127000	0.57944	1.459000	0.47892	0.561000	0.74099	GAA	FANCM	-	NULL	ENSG00000187790		0.333	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0.00	34	0	G	XM_048128		45642264	+1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.506	A
FBN1	2200	genome.wustl.edu	37	15	48734034	48734034	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:48734034T>C	ENST00000316623.5	-	50	6502	c.6047A>G	c.(6046-6048)gAg>gGg	p.E2016G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2016	EGF-like 35; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCGACACACTCATCAATATC	0.443																																																	0													113.0	112.0	112.0					15																	48734034		2198	4296	6494	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6047A>G	15.37:g.48734034T>C	ENSP00000325527:p.Glu2016Gly		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.E2016G	ENST00000316623.5	37	c.6047	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	T	31	5.081387	0.94050	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.98849	-5.18	5.94	5.94	0.96194	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	H	0.96777	3.88	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	D	0.98252	1.0494	10	0.87932	D	0	.	16.0478	0.80731	0.0:0.0:0.0:1.0	.	2016	P35555	FBN1_HUMAN	G	2016;584;906	ENSP00000325527:E2016G	ENSP00000325527:E2016G	E	-	2	0	FBN1	46521326	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.842000	0.86851	2.264000	0.75181	0.528000	0.53228	GAG	FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.443	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0.00	27	0	T			48734034	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	C
FBN1	2200	genome.wustl.edu	37	15	48777601	48777601	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:48777601C>T	ENST00000316623.5	-	30	4137	c.3682G>A	c.(3682-3684)Gca>Aca	p.A1228T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1228	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCATTAGTGCAAATCCCGGC	0.453																																																	0													121.0	108.0	112.0					15																	48777601		2198	4296	6494	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3682G>A	15.37:g.48777601C>T	ENSP00000325527:p.Ala1228Thr		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.A1228T	ENST00000316623.5	37	c.3682	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.595445	0.96602	.	.	ENSG00000166147	ENST00000316623	D	0.86627	-2.15	6.05	6.05	0.98169	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87026	0.6075	N	0.05467	-0.045	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.85206	0.1018	10	0.21540	T	0.41	.	20.2037	0.98272	0.0:1.0:0.0:0.0	.	1228	P35555	FBN1_HUMAN	T	1228	ENSP00000325527:A1228T	ENSP00000325527:A1228T	A	-	1	0	FBN1	46564893	1.000000	0.71417	0.954000	0.39281	0.988000	0.76386	7.814000	0.86154	2.866000	0.98385	0.650000	0.86243	GCA	FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN	ENSG00000166147		0.453	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0.00	45	0	C			48777601	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T
FLG	2312	genome.wustl.edu	37	1	152280800	152280800	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:152280800T>C	ENST00000368799.1	-	3	6597	c.6562A>G	c.(6562-6564)Agt>Ggt	p.S2188G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2188	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.532									Ichthyosis																																								0													469.0	398.0	422.0					1																	152280800		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6562A>G	1.37:g.152280800T>C	ENSP00000357789:p.Ser2188Gly		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S2188G	ENST00000368799.1	37	c.6562	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	t	5.857	0.342342	0.11069	.	.	ENSG00000143631	ENST00000368799	T	0.03689	3.84	2.62	-0.852	0.10713	.	.	.	.	.	T	0.01287	0.0042	M	0.73962	2.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46247	-0.9205	9	0.20519	T	0.43	.	1.7917	0.03053	0.2907:0.4033:0.0:0.306	.	2188	P20930	FILA_HUMAN	G	2188	ENSP00000357789:S2188G	ENSP00000357789:S2188G	S	-	1	0	FLG	150547424	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.177000	0.09796	0.161000	0.19458	0.397000	0.26171	AGT	FLG	-	NULL	ENSG00000143631		0.532	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	145	0	T	NM_002016		152280800	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	27.52	77	30	SNP	0.000	C
FCRL5	83416	genome.wustl.edu	37	1	157514222	157514222	+	Missense_Mutation	SNP	C	C	T	rs138632023		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:157514222C>T	ENST00000361835.3	-	5	831	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	FCRL5_ENST00000356953.4_Missense_Mutation_p.R225Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.R225Q|FCRL5_ENST00000368191.3_Missense_Mutation_p.R140Q|FCRL5_ENST00000368189.3_Missense_Mutation_p.R225Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	225	Ig-like C2-type 2.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAAGCGGAACCGGAGCGGGAC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19554	0.0		0.0	False		,,,				2504	0.0																0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	106.0	112.0	110.0		674,674	-3.4	0.0	1	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FCRL5	NM_001195388.1,NM_031281.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	225/999,225/978	157514222	1,13005	2203	4300	6503	SO:0001583	missense	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.674G>A	1.37:g.157514222C>T	ENSP00000354691:p.Arg225Gln		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R225Q	ENST00000361835.3	37	c.674	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	1.326	-0.598003	0.03771	0.0	1.16E-4	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.11	-3.42	0.04825	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.411730	0.01206	N	0.007709	T	0.00524	0.0017	N	0.00471	-1.455	0.09310	N	0.999999	B;B;B;B;B	0.17667	0.02;0.018;0.022;0.023;0.022	B;B;B;B;B	0.11329	0.003;0.002;0.006;0.003;0.006	T	0.38802	-0.9644	10	0.02654	T	1	.	3.2017	0.06652	0.2813:0.2646:0.0:0.4541	.	140;225;225;225;225	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	Q	225;225;225;140;225	ENSP00000354691:R225Q;ENSP00000349434:R225Q;ENSP00000357173:R225Q;ENSP00000357174:R140Q;ENSP00000357172:R225Q	ENSP00000349434:R225Q	R	-	2	0	FCRL5	155780846	0.001000	0.12720	0.018000	0.16275	0.005000	0.04900	-0.450000	0.06803	-0.872000	0.04037	-0.624000	0.04008	CGG	FCRL5	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143297		0.562	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	-	0.00	44	0	C	NM_031281		157514222	-1	tier1	rs138632023	no_errors	ENST00000356953	ensembl	human	known	74_37	missense	41.94	36	26	SNP	0.072	T
FLNB	2317	genome.wustl.edu	37	3	58108914	58108914	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:58108914G>T	ENST00000295956.4	+	21	3386	c.3221G>T	c.(3220-3222)gGc>gTc	p.G1074V	FLNB_ENST00000419752.2_Missense_Mutation_p.G905V|FLNB_ENST00000358537.3_Missense_Mutation_p.G1074V|FLNB_ENST00000357272.4_Missense_Mutation_p.G1074V|FLNB_ENST00000348383.5_Missense_Mutation_p.G1074V|FLNB_ENST00000490882.1_Missense_Mutation_p.G1074V|FLNB_ENST00000493452.1_Missense_Mutation_p.G905V|FLNB_ENST00000429972.2_Missense_Mutation_p.G1074V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1074					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAGGTCTGGGCTTAACGGTG	0.587																																																	0													155.0	140.0	145.0					3																	58108914		2203	4300	6503	SO:0001583	missense	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3221G>T	3.37:g.58108914G>T	ENSP00000295956:p.Gly1074Val		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G1074V	ENST00000295956.4	37	c.3221	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.127038	0.94429	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.66	5.66	0.87406	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93281	0.7859	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.996;1.0;1.0;0.999;1.0;1.0	D	0.93148	0.6547	10	0.62326	D	0.03	.	20.1156	0.97930	0.0:0.0:1.0:0.0	.	1074;1074;905;905;1074;1074	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	V	1074;1074;1074;1074;1074;1074;905;905	ENSP00000295956:G1074V;ENSP00000420213:G1074V;ENSP00000351339:G1074V;ENSP00000415599:G1074V;ENSP00000232447:G1074V;ENSP00000349819:G1074V;ENSP00000418510:G905V;ENSP00000414532:G905V	ENSP00000295956:G1074V	G	+	2	0	FLNB	58083954	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.809000	0.99208	2.824000	0.97209	0.655000	0.94253	GGC	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.587	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	-	0.00	66	0	G	NM_001457		58108914	+1	tier1	-	no_errors	ENST00000295956	ensembl	human	known	74_37	missense	51.67	29	31	SNP	1.000	T
GABRA1	2554	genome.wustl.edu	37	5	161300175	161300175	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:161300175A>G	ENST00000428797.2	+	6	663	c.308A>G	c.(307-309)aAa>aGa	p.K103R	GABRA1_ENST00000023897.6_Missense_Mutation_p.K103R|GABRA1_ENST00000444819.1_Missense_Mutation_p.K103R|GABRA1_ENST00000420560.1_Missense_Mutation_p.K103R|GABRA1_ENST00000393943.4_Missense_Mutation_p.K103R|GABRA1_ENST00000437025.2_Missense_Mutation_p.K103R	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	103					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAAAGGTTAAAATTTAAAGGA	0.383																																																	0													90.0	95.0	93.0					5																	161300175		2203	4300	6503	SO:0001583	missense	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.308A>G	5.37:g.161300175A>G	ENSP00000393097:p.Lys103Arg		D3DQK6|Q8N629	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_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.K103R	ENST00000428797.2	37	c.308	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807080	0.50421	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	N	0.16862	0.45	0.58432	D	0.999998	D	0.76494	0.999	D	0.87578	0.998	T	0.78861	-0.2037	10	0.30078	T	0.28	.	16.0549	0.80794	1.0:0.0:0.0:0.0	.	103	P14867	GBRA1_HUMAN	R	103	ENSP00000023897:K103R;ENSP00000393097:K103R;ENSP00000377517:K103R;ENSP00000415441:K103R;ENSP00000408041:K103R;ENSP00000414232:K103R;ENSP00000430435:K103R	ENSP00000023897:K103R	K	+	2	0	GABRA1	161232753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.294000	0.78760	2.193000	0.70182	0.477000	0.44152	AAA	GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000022355		0.383	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2		0.00	59	0	A	NM_000806.5		161300175	+1			no_errors	ENST00000023897	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	G
GABRG1	2565	genome.wustl.edu	37	4	46043213	46043213	+	Missense_Mutation	SNP	G	G	T	rs371875912		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:46043213G>T	ENST00000295452.4	-	9	1357	c.1190C>A	c.(1189-1191)cCg>cAg	p.P397Q		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	397					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)	ATCTTCTTGCGGCACAGAAAT	0.413																																																	0													80.0	82.0	81.0					4																	46043213		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.1190C>A	4.37:g.46043213G>T	ENSP00000295452:p.Pro397Gln		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.P397Q	ENST00000295452.4	37	c.1190	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	G	5.295	0.239895	0.10023	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.83755	-1.76	5.46	5.46	0.80206	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.234953	0.20750	U	0.086373	T	0.57621	0.2066	N	0.00841	-1.15	0.37111	D	0.90037	P	0.36330	0.548	B	0.34301	0.179	T	0.68179	-0.5477	10	0.28530	T	0.3	.	13.2924	0.60278	0.0:0.0:0.8418:0.1582	.	397	Q8N1C3	GBRG1_HUMAN	Q	397	ENSP00000295452:P397Q	ENSP00000295452:P397Q	P	-	2	0	GABRG1	45737970	0.974000	0.33945	0.886000	0.34754	0.024000	0.10985	1.951000	0.40333	2.553000	0.86117	0.585000	0.79938	CCG	GABRG1	-	superfamily_Neurotrans-gated_channel_TM,prints_GABBAg1_rcpt	ENSG00000163285		0.413	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1		0.00	52	0	G	NM_173536		46043213	-1			no_errors	ENST00000295452	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.979	T
GARNL3	84253	genome.wustl.edu	37	9	130155496	130155496	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:130155496C>T	ENST00000373387.4	+	28	3357	c.3005C>T	c.(3004-3006)aCg>aTg	p.T1002M	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.T980M	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	1002					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTCCAGCTCACGGCTTTCTCC	0.507																																																	0													65.0	74.0	71.0					9																	130155496		2203	4300	6503	SO:0001583	missense	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.3005C>T	9.37:g.130155496C>T	ENSP00000362485:p.Thr1002Met		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom	p.T1002M	ENST00000373387.4	37	c.3005	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	C	8.350	0.830662	0.16820	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.87491	-2.25;-2.26	5.73	2.06	0.26882	.	0.916443	0.09497	N	0.794217	T	0.78071	0.4226	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.59209	-0.7497	9	.	.	.	.	10.6023	0.45373	0.0:0.7736:0.0:0.2264	.	1002;980	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	M	980;1002	ENSP00000396205:T980M;ENSP00000362485:T1002M	.	T	+	2	0	GARNL3	129195317	0.001000	0.12720	0.001000	0.08648	0.480000	0.33159	0.821000	0.27338	0.181000	0.19994	0.655000	0.94253	ACG	GARNL3	-	NULL	ENSG00000136895		0.507	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3		0.00	30	0	C	NM_032293		130155496	+1			no_errors	ENST00000373387	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.006	T
GFM1	85476	genome.wustl.edu	37	3	158367801	158367801	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:158367801C>T	ENST00000264263.5	+	6	735	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	GFM1_ENST00000486715.1_Intron|GFM1_ENST00000478576.1_Intron					G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAGGCACTTCCTGAGGGATTT	0.468																																																	0																																										SO:0001819	synonymous_variant	0			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000264263.5:c.697C>T	3.37:g.158367801C>T				Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	p.L233	ENST00000264263.5	37	c.697		3																																																																																			GFM1	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFG/EF2	ENSG00000168827		0.468	GFM1-004	NOVEL	basic	protein_coding	GFM1	HGNC	protein_coding	OTTHUMT00000352274.1	-	0.00	87	0	C	NM_024996		158367801	+1	tier1	-	no_errors	ENST00000264263	ensembl	human	novel	74_37	silent	41.27	37	26	SNP	0.000	T
GLP2R	9340	genome.wustl.edu	37	17	9791263	9791263	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:9791263C>T	ENST00000262441.5	+	12	1812	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A	GLP2R_ENST00000574745.1_Silent_p.A253A	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	433					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TCCTGGTGGCCTTGCAGTATG	0.507																																																	0													334.0	283.0	300.0					17																	9791263		2203	4300	6503	SO:0001819	synonymous_variant	0			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1299C>T	17.37:g.9791263C>T			Q4VAT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.A433	ENST00000262441.5	37	c.1299	CCDS11150.1	17																																																																																			GLP2R	-	pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000065325		0.507	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP2R	HGNC	protein_coding	OTTHUMT00000252601.4	-	0.00	78	0	C			9791263	+1	tier1	-	no_errors	ENST00000262441	ensembl	human	known	74_37	silent	9.23	59	6	SNP	1.000	T
GLRB	2743	genome.wustl.edu	37	4	158041783	158041783	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:158041783T>G	ENST00000264428.4	+	3	468	c.198T>G	c.(196-198)agT>agG	p.S66R	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.S66R|GLRB_ENST00000509282.1_Missense_Mutation_p.S66R	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	66					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TATTGGTCAGTTATGATCCCA	0.363																																																	0													109.0	113.0	111.0					4																	158041783		2203	4300	6503	SO:0001583	missense	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.198T>G	4.37:g.158041783T>G	ENSP00000264428:p.Ser66Arg		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S66R	ENST00000264428.4	37	c.198	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786411	0.49997	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.77489	-1.1;-1.1;-1.1	5.28	5.28	0.74379	Neurotransmitter-gated ion-channel ligand-binding (3);	0.130278	0.64402	D	0.000002	T	0.66015	0.2747	N	0.17594	0.5	0.45621	D	0.998556	B	0.31413	0.322	B	0.36608	0.229	T	0.68941	-0.5276	10	0.87932	D	0	.	10.2886	0.43581	0.0:0.0845:0.0:0.9155	.	66	P48167	GLRB_HUMAN	R	66	ENSP00000264428:S66R;ENSP00000441873:S66R;ENSP00000427186:S66R	ENSP00000264428:S66R	S	+	3	2	GLRB	158261233	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	0.760000	0.26475	2.126000	0.65437	0.254000	0.18369	AGT	GLRB	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_B,tigrfam_Neur_channel	ENSG00000109738		0.363	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	-	0.00	73	0	T	NM_000824		158041783	+1	tier1	-	no_errors	ENST00000264428	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	G
GMPR2	51292	genome.wustl.edu	37	14	24702536	24702536	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:24702536C>T	ENST00000355299.4	+	2	538	c.77C>T	c.(76-78)tCt>tTt	p.S26F	GMPR2_ENST00000456667.3_Missense_Mutation_p.S26F|GMPR2_ENST00000399440.2_Missense_Mutation_p.S26F|NEDD8-MDP1_ENST00000604306.1_5'Flank|GMPR2_ENST00000559104.1_Missense_Mutation_p.S44F|GMPR2_ENST00000420554.2_Missense_Mutation_p.S44F|GMPR2_ENST00000559910.1_Missense_Mutation_p.S26F|NEDD8_ENST00000250495.5_5'Flank|GMPR2_ENST00000557854.1_Missense_Mutation_p.S44F|NEDD8_ENST00000524927.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_5'Flank|GMPR2_ENST00000559836.1_Missense_Mutation_p.S26F|NEDD8_ENST00000533242.1_5'Flank|GMPR2_ENST00000348719.7_Missense_Mutation_p.S26F	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	26					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ACCCTTAAGTCTCGAAGTGAG	0.512																																																	0													189.0	181.0	184.0					14																	24702536		1971	4151	6122	SO:0001583	missense	0				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.77C>T	14.37:g.24702536C>T	ENSP00000347449:p.Ser26Phe		D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_FMN-dep_DH,tigrfam_GMP_reduct1	p.S26F	ENST00000355299.4	37	c.77	CCDS41935.1	14	.	.	.	.	.	.	.	.	.	.	C	34	5.367217	0.95900	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.65	5.65	0.86999	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.051516	0.85682	D	0.000000	D	0.94328	0.8177	H	0.99104	4.43	0.80722	D	1	D;D;D;D;D	0.64830	0.977;0.994;0.978;0.983;0.983	P;D;P;P;P	0.66084	0.893;0.941;0.746;0.835;0.75	D	0.96309	0.9227	10	0.87932	D	0	-2.7975	18.8485	0.92217	0.0:1.0:0.0:0.0	.	26;26;44;26;26	Q86T14;Q6PKC0;Q9P2T1-2;Q7Z527;Q9P2T1	.;.;.;.;GMPR2_HUMAN	F	26;26;44;26;26;26	ENSP00000347449:S26F;ENSP00000392859:S44F;ENSP00000382369:S26F;ENSP00000334409:S26F;ENSP00000405743:S26F	ENSP00000334409:S26F	S	+	2	0	GMPR2	23772376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.826000	0.48104	2.817000	0.96982	0.563000	0.77884	TCT	GMPR2	-	pfam_IMP_DH_GMPRt,tigrfam_GMP_reduct1	ENSG00000100938		0.512	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GMPR2	HGNC	protein_coding	OTTHUMT00000415821.2	-	0.00	28	0	C	NM_016576		24702536	+1	tier1	-	no_errors	ENST00000348719	ensembl	human	known	74_37	missense	27.78	25	10	SNP	1.000	T
GPCPD1	56261	genome.wustl.edu	37	20	5545710	5545710	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:5545710C>T	ENST00000379019.4	-	15	1494	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	428	GP-PDE.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GAATTTTCCTCCTGAACCACA	0.328																																																	0													110.0	112.0	111.0					20																	5545710		2203	4300	6503	SO:0001583	missense	0				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1282G>A	20.37:g.5545710C>T	ENSP00000368305:p.Glu428Lys		D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,pfam_CBM_fam20,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20	p.E428K	ENST00000379019.4	37	c.1282	CCDS13090.1	20	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107465	0.56291	.	.	ENSG00000125772	ENST00000379019;ENST00000418646	T	0.11385	2.78	5.41	5.41	0.78517	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.217643	0.47093	D	0.000256	T	0.09949	0.0244	L	0.41906	1.305	0.53005	D	0.99996	P	0.37914	0.611	B	0.34536	0.185	T	0.11324	-1.0592	10	0.07175	T	0.84	-10.8455	19.1488	0.93479	0.0:1.0:0.0:0.0	.	428	Q9NPB8	GPCP1_HUMAN	K	428;87	ENSP00000368305:E428K	ENSP00000368305:E428K	E	-	1	0	GPCPD1	5493710	0.994000	0.37717	0.239000	0.24122	0.673000	0.39480	4.882000	0.63121	2.688000	0.91661	0.655000	0.94253	GAG	GPCPD1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000125772		0.328	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPCPD1	HGNC	protein_coding	OTTHUMT00000077869.1		0.00	28	0	C	NM_019593		5545710	-1			no_errors	ENST00000379019	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.958	T
GRIA4	2893	genome.wustl.edu	37	11	105483060	105483060	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:105483060T>G	ENST00000530497.1	+	2	146	c.146T>G	c.(145-147)tTt>tGt	p.F49C	GRIA4_ENST00000525187.1_Missense_Mutation_p.F49C|GRIA4_ENST00000393125.2_Missense_Mutation_p.F49C|GRIA4_ENST00000282499.5_Missense_Mutation_p.F49C|GRIA4_ENST00000527669.1_Missense_Mutation_p.F49C|GRIA4_ENST00000428631.2_Missense_Mutation_p.F49C|GRIA4_ENST00000393127.2_Missense_Mutation_p.F49C			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	49					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TTAGCAATTTTTCTTCATAAC	0.423																																																	0													144.0	125.0	131.0					11																	105483060		2202	4299	6501	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.146T>G	11.37:g.105483060T>G	ENSP00000435775:p.Phe49Cys		Q86XE8	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.F49C	ENST00000530497.1	37	c.146	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	T	18.65	3.670137	0.67814	.	.	ENSG00000152578	ENST00000527177;ENST00000393125;ENST00000531986;ENST00000282499;ENST00000393127;ENST00000527669;ENST00000525921;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.91	5.91	0.95273	Extracellular ligand-binding receptor (1);	0.165316	0.42548	D	0.000697	T	0.27629	0.0679	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.76494	0.973;0.998;0.998;0.99;0.999	P;D;D;D;D	0.76071	0.886;0.917;0.95;0.91;0.987	T	0.30707	-0.9969	10	0.40728	T	0.16	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	49;49;79;49;49	P48058;G3V164;Q59GL7;Q86XE8;E9PQN1	GRIA4_HUMAN;.;.;.;.	C	49	ENSP00000376833:F49C;ENSP00000282499:F49C;ENSP00000376835:F49C;ENSP00000415551:F49C;ENSP00000432443:F49C;ENSP00000435775:F49C;ENSP00000432180:F49C	ENSP00000282499:F49C	F	+	2	0	GRIA4	104988270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	TTT	GRIA4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152578		0.423	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	-	0.00	62	0	T			105483060	+1	tier1	-	no_errors	ENST00000282499	ensembl	human	known	74_37	missense	17.86	46	10	SNP	1.000	G
GRIK4	2900	genome.wustl.edu	37	11	120690618	120690618	+	Missense_Mutation	SNP	C	C	T	rs41297895	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:120690618C>T	ENST00000527524.2	+	6	787	c.500C>T	c.(499-501)gCc>gTc	p.A167V	GRIK4_ENST00000438375.2_Missense_Mutation_p.A167V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	167					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|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)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CTCATCTGTGCCAAAGCAGAA	0.562																																																	0													151.0	143.0	146.0					11																	120690618		2203	4299	6502	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.500C>T	11.37:g.120690618C>T	ENSP00000435648:p.Ala167Val		A8K9L1	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.A167V	ENST00000527524.2	37	c.500	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687423	0.88639	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.83335	-1.71;-1.71	4.71	4.71	0.59529	Extracellular ligand-binding receptor (1);	0.049277	0.85682	D	0.000000	D	0.88735	0.6517	M	0.63428	1.95	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.60473	0.875;0.875	D	0.90045	0.4145	10	0.72032	D	0.01	.	17.8548	0.88759	0.0:1.0:0.0:0.0	.	167;167	A6H8K8;Q16099	.;GRIK4_HUMAN	V	167	ENSP00000435648:A167V;ENSP00000404063:A167V	ENSP00000404063:A167V	A	+	2	0	GRIK4	120195828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.282000	0.78630	2.435000	0.82474	0.561000	0.74099	GCC	GRIK4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000149403		0.562	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	-	0.00	28	0	C	NM_014619		120690618	+1	tier1	-	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T
GRIK4	2900	genome.wustl.edu	37	11	120776104	120776104	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:120776104C>G	ENST00000527524.2	+	13	1665	c.1378C>G	c.(1378-1380)Cga>Gga	p.R460G	GRIK4_ENST00000438375.2_Missense_Mutation_p.R460G	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	460					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|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)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		AGAGATCCTCCGATTCAACTA	0.582																																																	0													164.0	161.0	162.0					11																	120776104		2203	4299	6502	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1378C>G	11.37:g.120776104C>G	ENSP00000435648:p.Arg460Gly		A8K9L1	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.R460G	ENST00000527524.2	37	c.1378	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	C	6.774	0.511746	0.12944	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.06142	3.34;3.34	5.47	4.55	0.56014	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.059773	0.64402	D	0.000003	T	0.02848	0.0085	N	0.00890	-1.11	0.24712	N	0.993193	B;P	0.35575	0.223;0.51	B;B	0.42827	0.399;0.399	T	0.47100	-0.9143	10	0.02654	T	1	.	15.6054	0.76664	0.1388:0.8612:0.0:0.0	.	460;460	A6H8K8;Q16099	.;GRIK4_HUMAN	G	460	ENSP00000435648:R460G;ENSP00000404063:R460G	ENSP00000404063:R460G	R	+	1	2	GRIK4	120281314	0.998000	0.40836	0.377000	0.26055	0.936000	0.57629	4.133000	0.57983	1.281000	0.44480	-0.182000	0.12963	CGA	GRIK4	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd	ENSG00000149403		0.582	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4		0.00	44	0	C	NM_014619		120776104	+1			no_errors	ENST00000527524	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.375	G
GSN	2934	genome.wustl.edu	37	9	124091567	124091567	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:124091567G>C	ENST00000373818.4	+	15	2161	c.2092G>C	c.(2092-2094)Gtc>Ctc	p.V698L	GSN_ENST00000373823.3_Missense_Mutation_p.V647L|GSN_ENST00000545652.1_Missense_Mutation_p.V655L|GSN_ENST00000394353.2_Missense_Mutation_p.V658L|GSN_ENST00000449733.1_Missense_Mutation_p.V647L|GSN_ENST00000412819.1_Missense_Mutation_p.V647L|GSN_ENST00000373806.1_Missense_Mutation_p.V123L|GSN_ENST00000373807.1_Missense_Mutation_p.V429L|GSN_ENST00000373808.2_Missense_Mutation_p.V647L|GSN_ENST00000436847.1_Missense_Mutation_p.V658L|GSN_ENST00000341272.2_Missense_Mutation_p.V647L	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	698	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AACGGATGACGTCATGCTTCT	0.547																																																	0													124.0	102.0	109.0					9																	124091567		2203	4300	6503	SO:0001583	missense	0			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2092G>C	9.37:g.124091567G>C	ENSP00000362924:p.Val698Leu		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.V698L	ENST00000373818.4	37	c.2092	CCDS6828.1	9	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872187	0.91587	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807;ENST00000373806;ENST00000373805	T;T;T;T;T;T;T;T;T;T;T	0.57752	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;0.38;1.59	5.62	5.62	0.85841	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.81269	0.4787	M	0.94142	3.5	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0	D;P;D;D;D	0.87578	0.994;0.883;0.989;0.994;0.998	D	0.86287	0.1671	10	0.87932	D	0	-43.6659	18.6513	0.91431	0.0:0.0:1.0:0.0	.	671;655;658;429;698	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	L	647;658;658;647;647;647;647;631;621;655;698;429;123;123	ENSP00000362929:V647L;ENSP00000411293:V658L;ENSP00000377882:V658L;ENSP00000409358:V647L;ENSP00000416586:V647L;ENSP00000340888:V647L;ENSP00000362914:V647L;ENSP00000445823:V655L;ENSP00000362924:V698L;ENSP00000362913:V429L;ENSP00000362912:V123L	ENSP00000340888:V647L	V	+	1	0	GSN	123131388	1.000000	0.71417	0.989000	0.46669	0.649000	0.38597	9.414000	0.97362	2.625000	0.88918	0.655000	0.94253	GTC	GSN	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	ENSG00000148180		0.547	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	-	0.00	30	0	G	NM_000177		124091567	+1	tier1	-	no_errors	ENST00000373818	ensembl	human	known	74_37	missense	60.00	10	15	SNP	1.000	C
HEATR4	399671	genome.wustl.edu	37	14	73974888	73974888	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:73974888C>T	ENST00000553558.1	-	9	2152	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	HEATR4_ENST00000334988.2_Missense_Mutation_p.D611N|HEATR4_ENST00000560393.1_Missense_Mutation_p.D564N	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	611										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCCTCAGTGTCCTCATTCTTC	0.483																																																	0													159.0	148.0	152.0					14																	73974888		2203	4300	6503	SO:0001583	missense	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1831G>A	14.37:g.73974888C>T	ENSP00000450444:p.Asp611Asn		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.D611N	ENST00000553558.1	37	c.1831	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463178	0.26248	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.12672	2.66	5.63	3.81	0.43845	Armadillo-like helical (1);Armadillo-type fold (1);	0.326181	0.26485	N	0.024112	T	0.10423	0.0255	L	0.36672	1.1	0.23126	N	0.998257	B	0.16166	0.016	B	0.12156	0.007	T	0.33548	-0.9864	10	0.13470	T	0.59	-9.5828	11.0476	0.47867	0.0:0.8473:0.0:0.1527	.	611	Q86WZ0	HEAT4_HUMAN	N	611;564	ENSP00000450444:D611N	ENSP00000335447:D564N	D	-	1	0	HEATR4	73044641	0.862000	0.29867	0.908000	0.35775	0.199000	0.23934	2.391000	0.44424	0.737000	0.32582	0.563000	0.77884	GAC	HEATR4	-	superfamily_ARM-type_fold	ENSG00000187105		0.483	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	-	0.00	51	0	C	NM_203309		73974888	-1	tier1	-	no_errors	ENST00000334988	ensembl	human	known	74_37	missense	30.61	34	15	SNP	0.971	T
HEXIM1	10614	genome.wustl.edu	37	17	43226787	43226787	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:43226787A>G	ENST00000332499.2	+	1	2104	c.230A>G	c.(229-231)cAg>cGg	p.Q77R	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	77					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTGCAGACCCAGGCCTGTCCA	0.662											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													22.0	24.0	23.0					17																	43226787		2203	4299	6502	SO:0001583	missense	0			AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.230A>G	17.37:g.43226787A>G	ENSP00000328773:p.Gln77Arg	914	B2R8Y5	Missense_Mutation	SNP	NULL	p.Q77R	ENST00000332499.2	37	c.230	CCDS11495.1	17	.	.	.	.	.	.	.	.	.	.	A	0.139	-1.104034	0.01828	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.13	1.66	0.24008	.	1.632230	0.03787	N	0.262291	T	0.19005	0.0456	N	0.08118	0	0.19575	N	0.999962	B	0.18310	0.027	B	0.14023	0.01	T	0.17745	-1.0359	9	0.25751	T	0.34	-1.2797	3.9356	0.09304	0.564:0.2055:0.0:0.2305	.	77	O94992	HEXI1_HUMAN	R	77	.	ENSP00000328773:Q77R	Q	+	2	0	HEXIM1	40582570	0.266000	0.24112	0.351000	0.25721	0.123000	0.20343	0.011000	0.13264	0.627000	0.30340	0.459000	0.35465	CAG	HEXIM1	-	NULL	ENSG00000186834		0.662	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM1	HGNC	protein_coding	OTTHUMT00000449821.2	-	0.00	52	0	A	NM_006460		43226787	+1	tier1	-	no_errors	ENST00000332499	ensembl	human	known	74_37	missense	6.67	55	4	SNP	0.893	G
HIPK2	28996	genome.wustl.edu	37	7	139268762	139268762	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:139268762G>A	ENST00000406875.3	-	13	2860	c.2766C>T	c.(2764-2766)caC>caT	p.H922H	HIPK2_ENST00000428878.2_Silent_p.H895H|HIPK2_ENST00000342645.6_Silent_p.H822H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	922	Interaction with TP53 and TP73.|Required for localization to nuclear speckles. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGGGGGAGTCGTGGACTGTGA	0.562																																																	0													126.0	135.0	132.0					7																	139268762		2120	4223	6343	SO:0001819	synonymous_variant	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2766C>T	7.37:g.139268762G>A			Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H922	ENST00000406875.3	37	c.2766		7																																																																																			HIPK2	-	NULL	ENSG00000064393		0.562	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3		0.00	39	0	G	NM_022740		139268762	-1			no_errors	ENST00000406875	ensembl	human	known	74_37	silent	12.50	21	3	SNP	0.991	A
HIVEP3	59269	genome.wustl.edu	37	1	42050347	42050347	+	Missense_Mutation	SNP	C	C	T	rs150613288		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:42050347C>T	ENST00000372583.1	-	4	1007	c.122G>A	c.(121-123)gGc>gAc	p.G41D	HIVEP3_ENST00000372584.1_Missense_Mutation_p.G41D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G41D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G41D	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	41					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCAGCTGTGCCGCTGCCTGG	0.617																																																	0													90.0	107.0	101.0					1																	42050347		2203	4300	6503	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.122G>A	1.37:g.42050347C>T	ENSP00000361664:p.Gly41Asp		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G41D	ENST00000372583.1	37	c.122	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	2.733	-0.264044	0.05754	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06608	3.29;3.28;3.28;3.29	4.48	2.5	0.30297	.	1.426900	0.04335	N	0.353082	T	0.05318	0.0141	N	0.08118	0	0.09310	N	0.999999	B;B	0.25609	0.13;0.079	B;B	0.24701	0.055;0.051	T	0.47812	-0.9088	10	0.25751	T	0.34	-17.8939	14.1532	0.65401	0.0:0.6766:0.3234:0.0	.	41;41	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	D	41	ENSP00000361665:G41D;ENSP00000361664:G41D;ENSP00000247584:G41D;ENSP00000410828:G41D	ENSP00000247584:G41D	G	-	2	0	HIVEP3	41822934	0.033000	0.19621	0.004000	0.12327	0.115000	0.19883	0.038000	0.13862	0.549000	0.28973	0.514000	0.50259	GGC	HIVEP3	-	NULL	ENSG00000127124		0.617	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0.00	46	0	C	NM_024503		42050347	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.093	T
HMCN1	83872	genome.wustl.edu	37	1	186151369	186151369	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:186151369G>A	ENST00000271588.4	+	105	16593	c.16364G>A	c.(16363-16365)tGc>tAc	p.C5455Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.C5338Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5455	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.C5455Y(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTTATCAGTGCATCTGCCCA	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											140.0	131.0	134.0					1																	186151369		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16364G>A	1.37:g.186151369G>A	ENSP00000271588:p.Cys5455Tyr		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.C5455Y	ENST00000271588.4	37	c.16364	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629812	0.87660	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.99999	-13.64;-13.64;-13.64	5.42	5.42	0.78866	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99999	1.0000	H	0.99444	4.57	0.80722	D	1	D	0.67145	0.996	D	0.83275	0.996	D	0.99998	1.6824	10	0.87932	D	0	.	19.2127	0.93763	0.0:0.0:1.0:0.0	.	5455	Q96RW7	HMCN1_HUMAN	Y	5455;5338;130	ENSP00000271588:C5455Y;ENSP00000356462:C5338Y;ENSP00000406205:C130Y	ENSP00000271588:C5455Y	C	+	2	0	HMCN1	184417992	1.000000	0.71417	0.946000	0.38457	0.981000	0.71138	9.562000	0.98145	2.528000	0.85240	0.563000	0.77884	TGC	HMCN1	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0.00	36	0	G	NM_031935		186151369	+1			no_errors	ENST00000271588	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	A
HMGB2	3148	genome.wustl.edu	37	4	174253279	174253279	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:174253279C>T	ENST00000296503.5	-	5	1455	c.582G>A	c.(580-582)gaG>gaA	p.E194E	HMGB2_ENST00000438704.2_Silent_p.E194E|RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_Silent_p.E194E			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cttcttcttcctcctcctcct	0.473																																																	1	Substitution - coding silent(1)	endometrium(1)											302.0	253.0	269.0					4																	174253279		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582G>A	4.37:g.174253279C>T			B2R4K8|D3DP37|Q5U072	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.E194	ENST00000296503.5	37	c.582	CCDS3816.1	4																																																																																			HMGB2	-	NULL	ENSG00000164104		0.473	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB2	HGNC	protein_coding	OTTHUMT00000362362.1		0.00	43	0	C	NM_001130688		174253279	-1			no_errors	ENST00000296503	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.850	T
HNRNPR	10236	genome.wustl.edu	37	1	23636875	23636875	+	3'UTR	DEL	T	T	-			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:23636875delT	ENST00000374612.1	-	0	2097				HNRNPR_ENST00000302271.6_3'UTR|HNRNPR_ENST00000606561.1_3'UTR|HNRNPR_ENST00000427764.2_3'UTR|HNRNPR_ENST00000478691.1_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)		GTTAAGCCAATTTTTTTTTTT	0.343																																																	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.*72A>-	1.37:g.23636875delT			Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	RNA	DEL	-	NULL	ENST00000374612.1	37	NULL	CCDS232.1	1																																																																																			HNRNPR	-	-	ENSG00000125944		0.343	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1		0.00	40	0	T	NM_005826		23636875	-1	tier1		no_errors	ENST00000476660	ensembl	human	known	74_37	rna	13.79	25	4	DEL	0.936	-
HSPB7	27129	genome.wustl.edu	37	1	16343677	16343677	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:16343677G>C	ENST00000311890.9	-	2	1051	c.225C>G	c.(223-225)atC>atG	p.I75M	HSPB7_ENST00000411503.1_Missense_Mutation_p.I75M|HSPB7_ENST00000375718.4_Missense_Mutation_p.I150M|HSPB7_ENST00000487046.1_Missense_Mutation_p.I80M|HSPB7_ENST00000406363.2_Missense_Mutation_p.I79M	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	75					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CTAGGGTCTTGATGTTGCCTG	0.602																																																	0													135.0	135.0	135.0					1																	16343677		2203	4300	6503	SO:0001583	missense	0			AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.225C>G	1.37:g.16343677G>C	ENSP00000310111:p.Ile75Met		B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.I80M	ENST00000311890.9	37	c.240	CCDS30611.1	1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653280	0.29425	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375718;ENST00000375714;ENST00000463576;ENST00000487046;ENST00000406363	D;D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04;-3.04	5.23	4.32	0.51571	Heat shock protein Hsp20 (1);HSP20-like chaperone (1);	0.140633	0.47093	D	0.000243	D	0.95322	0.8482	M	0.86502	2.82	0.80722	D	1	P;P;P;D;D	0.71674	0.828;0.939;0.939;0.998;0.988	P;P;P;D;P	0.68483	0.639;0.622;0.622;0.958;0.855	D	0.94012	0.7285	10	0.39692	T	0.17	-25.5025	8.1819	0.31315	0.0847:0.2553:0.6599:0.0	.	150;101;101;163;75	Q8N241;Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;.;HSPB7_HUMAN	M	75;75;150;168;34;80;79	ENSP00000391578:I75M;ENSP00000310111:I75M;ENSP00000364870:I150M;ENSP00000417966:I34M;ENSP00000419477:I80M;ENSP00000385472:I79M	ENSP00000310111:I75M	I	-	3	3	HSPB7	16216264	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	0.988000	0.29616	1.202000	0.43218	0.313000	0.20887	ATC	HSPB7	-	superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	ENSG00000173641		0.602	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	HGNC	protein_coding	OTTHUMT00000026334.2	-	0.00	45	0	G	NM_014424		16343677	-1	tier1	-	no_errors	ENST00000487046	ensembl	human	known	74_37	missense	12.90	26	4	SNP	0.999	C
HTR1F	3355	genome.wustl.edu	37	3	88039959	88039959	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:88039959G>T	ENST00000319595.4	+	1	114	c.60G>T	c.(58-60)atG>atT	p.M20I		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	20					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TAAACAGAATGCCATCCAAAA	0.388																																																	0													126.0	125.0	125.0					3																	88039959		2203	4300	6503	SO:0001583	missense	0			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.60G>T	3.37:g.88039959G>T	ENSP00000322924:p.Met20Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.M20I	ENST00000319595.4	37	c.60	CCDS2920.1	3	.	.	.	.	.	.	.	.	.	.	G	7.716	0.696160	0.15106	.	.	ENSG00000179097	ENST00000319595	T	0.35048	1.33	5.74	4.87	0.63330	.	0.216774	0.48767	D	0.000166	T	0.17238	0.0414	N	0.08118	0	0.28842	N	0.896534	B	0.02656	0.0	B	0.01281	0.0	T	0.12941	-1.0528	10	0.22706	T	0.39	.	7.7844	0.29083	0.082:0.0:0.7581:0.1599	.	20	P30939	5HT1F_HUMAN	I	20	ENSP00000322924:M20I	ENSP00000322924:M20I	M	+	3	0	HTR1F	88122649	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	0.706000	0.25690	1.437000	0.47472	-0.224000	0.12420	ATG	HTR1F	-	prints_5HT1F_rcpt	ENSG00000179097		0.388	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1F	HGNC	protein_coding	OTTHUMT00000352890.1	-	0.00	62	0	G	NM_000866		88039959	+1	tier1	-	no_errors	ENST00000319595	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	T
HTR2A	3356	genome.wustl.edu	37	13	47409525	47409525	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:47409525G>T	ENST00000378688.4	-	3	994	c.863C>A	c.(862-864)tCt>tAt	p.S288Y	HTR2A_ENST00000543956.1_Missense_Mutation_p.S204Y|HTR2A_ENST00000542664.1_Missense_Mutation_p.S288Y			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	288					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGAAGACAAAGAACTCTGAGG	0.478																																																	0													79.0	73.0	75.0					13																	47409525		2203	4300	6503	SO:0001583	missense	0			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.863C>A	13.37:g.47409525G>T	ENSP00000367959:p.Ser288Tyr		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.S288Y	ENST00000378688.4	37	c.863	CCDS9405.1	13	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166440	0.78339	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.63913	0.29;-0.07;0.29	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.78801	2.425	0.80722	D	1	P;P	0.37548	0.544;0.599	B;P	0.45167	0.341;0.472	T	0.74380	-0.3684	10	0.62326	D	0.03	.	19.3632	0.94451	0.0:0.0:1.0:0.0	.	204;288	F5GWE8;P28223	.;5HT2A_HUMAN	Y	288;204;288	ENSP00000367959:S288Y;ENSP00000441861:S204Y;ENSP00000437737:S288Y	ENSP00000367959:S288Y	S	-	2	0	HTR2A	46307526	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.434000	0.97515	2.894000	0.99253	0.591000	0.81541	TCT	HTR2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000102468		0.478	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2A	HGNC	protein_coding	OTTHUMT00000044835.3		0.00	38	0	G	NM_000621		47409525	-1			no_errors	ENST00000378688	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T
IFT140	9742	genome.wustl.edu	37	16	1621534	1621534	+	Splice_Site	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:1621534C>A	ENST00000426508.2	-	14	1889	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	509					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTTGACAGTCCCCTGAGGAAA	0.423																																																	0													64.0	59.0	61.0					16																	1621534		2199	4300	6499	SO:0001630	splice_region_variant	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1525-1G>T	16.37:g.1621534C>A			A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G509V	ENST00000426508.2	37	c.1526	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563748	0.65651	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.79352	-1.26	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.89567	0.6752	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90128	0.4204	10	0.72032	D	0.01	.	19.5778	0.95452	0.0:1.0:0.0:0.0	.	509;234	Q96RY7;B4DR58	IF140_HUMAN;.	V	509	ENSP00000406012:G509V	ENSP00000380562:G509V	G	-	2	0	IFT140	1561535	1.000000	0.71417	0.985000	0.45067	0.812000	0.45895	6.788000	0.75105	2.728000	0.93425	0.655000	0.94253	GGG	IFT140	-	NULL	ENSG00000187535		0.423	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	-	0.00	70	0	C	NM_014714	Missense_Mutation	1621534	-1	tier1	-	no_errors	ENST00000426508	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A
IL17RC	84818	genome.wustl.edu	37	3	9971729	9971729	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:9971729A>T	ENST00000295981.3	+	14	1605	c.1387A>T	c.(1387-1389)Aaa>Taa	p.K463*	IL17RC_ENST00000383812.4_Nonsense_Mutation_p.K377*|IL17RC_ENST00000455057.1_Nonsense_Mutation_p.K360*|IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000403601.3_Nonsense_Mutation_p.K392*|IL17RC_ENST00000413608.1_Nonsense_Mutation_p.K392*|IL17RC_ENST00000416074.2_Nonsense_Mutation_p.K231*	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	463					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGGGCCTCTCAAAGACGATGT	0.592																																																	0													63.0	65.0	65.0					3																	9971729		2203	4300	6503	SO:0001587	stop_gained	0			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1387A>T	3.37:g.9971729A>T	ENSP00000295981:p.Lys463*		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Nonsense_Mutation	SNP	pfam_SEFIR	p.K463*	ENST00000295981.3	37	c.1387	CCDS2590.1	3	.	.	.	.	.	.	.	.	.	.	A	29.7	5.024928	0.93518	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	.	.	.	5.84	4.61	0.57282	.	0.208574	0.32287	N	0.006314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.429	9.3636	0.38210	0.82:0.18:0.0:0.0	.	.	.	.	X	377;463;367;392;231;360;392	.	ENSP00000295981:K463X	K	+	1	0	IL17RC	9946729	0.834000	0.29399	0.999000	0.59377	0.199000	0.23934	2.676000	0.46883	2.234000	0.73211	0.459000	0.35465	AAA	IL17RC	-	NULL	ENSG00000163702		0.592	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL17RC	HGNC	protein_coding	OTTHUMT00000250526.2	-	0.00	33	0	A	NM_032732		9971729	+1	tier1	-	no_errors	ENST00000295981	ensembl	human	known	74_37	nonsense	12.50	28	4	SNP	0.999	T
IPPK	64768	genome.wustl.edu	37	9	95397512	95397512	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:95397512A>G	ENST00000287996.3	-	10	1271	c.995T>C	c.(994-996)cTg>cCg	p.L332P	IPPK_ENST00000375522.1_Missense_Mutation_p.L4P	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	332					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GATGTCCAGCAGGTCCAACAT	0.577											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													117.0	104.0	108.0					9																	95397512		2203	4300	6503	SO:0001583	missense	0			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.995T>C	9.37:g.95397512A>G	ENSP00000287996:p.Leu332Pro	1312	Q5T9F7|Q9H7V8	Missense_Mutation	SNP	pfam_Ins_P5_2-kin	p.L332P	ENST00000287996.3	37	c.995	CCDS6699.1	9	.	.	.	.	.	.	.	.	.	.	A	11.16	1.555966	0.27827	.	.	ENSG00000127080	ENST00000287996;ENST00000375522	T;T	0.45668	1.54;0.89	4.54	3.24	0.37175	.	0.392684	0.27691	N	0.018254	T	0.27349	0.0671	N	0.08118	0	0.51233	D	0.999915	B;B	0.32425	0.295;0.371	B;B	0.41332	0.354;0.27	T	0.07597	-1.0764	10	0.29301	T	0.29	-7.5533	10.1761	0.42939	0.8108:0.0:0.0:0.1892	.	332;31	Q9H8X2;B3KVX7	IPPK_HUMAN;.	P	332;4	ENSP00000287996:L332P;ENSP00000364672:L4P	ENSP00000287996:L332P	L	-	2	0	IPPK	94437333	1.000000	0.71417	0.983000	0.44433	0.954000	0.61252	2.470000	0.45119	0.658000	0.30925	0.459000	0.35465	CTG	IPPK	-	pfam_Ins_P5_2-kin	ENSG00000127080		0.577	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1	-	0.00	63	0	A	NM_022755		95397512	-1	tier1	-	no_errors	ENST00000287996	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.995	G
IRX2	153572	genome.wustl.edu	37	5	2749614	2749614	+	Silent	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:2749614G>T	ENST00000382611.6	-	2	785	c.537C>A	c.(535-537)acC>acA	p.T179T	C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000302057.5_Silent_p.T179T|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	179					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)	p.T179>I(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TCGGGGCCCAGGTCATCTTGT	0.597																																																	1	Complex - compound substitution(1)	skin(1)											139.0	132.0	134.0					5																	2749614		2203	4300	6503	SO:0001819	synonymous_variant	0			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.537C>A	5.37:g.2749614G>T			Q68A19|Q7Z2I7	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.T179	ENST00000382611.6	37	c.537	CCDS3868.1	5																																																																																			IRX2	-	smart_Homeobox_dom	ENSG00000170561		0.597	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX2	HGNC	protein_coding	OTTHUMT00000206749.2		0.00	83	0	G			2749614	-1			no_errors	ENST00000302057	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.259	T
PSCA	8000	genome.wustl.edu	37	8	143762060	143762060	+	Intron	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:143762060C>T	ENST00000301258.4	+	1	108				PSCA_ENST00000513264.1_Intron|PSCA_ENST00000505305.1_Intron	NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen							anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCAGGGCACACggagaggagg	0.682																																																	0																																										SO:0001627	intron_variant	0			AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.25+79C>T	8.37:g.143762060C>T			Q6UW92	RNA	SNP	-	NULL	ENST00000301258.4	37	NULL	CCDS47925.2	8																																																																																			JRK	-	-	ENSG00000234616		0.682	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JRK	HGNC	protein_coding	OTTHUMT00000367112.2	-	0.00	58	0	C	NM_005672		143762060	-1	tier1	-	no_errors	ENST00000585503	ensembl	human	known	74_37	rna	59.09	18	26	SNP	0.004	T
KCNK1	3775	genome.wustl.edu	37	1	233749941	233749941	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:233749941C>T	ENST00000366621.3	+	1	192	c.24C>T	c.(22-24)agC>agT	p.S8S		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	8					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	TGGCCGGCAGCTCGTGCGTGC	0.721																																																	0													23.0	22.0	22.0					1																	233749941		2198	4297	6495	SO:0001819	synonymous_variant	0			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.24C>T	1.37:g.233749941C>T			Q13307|Q5T5E8	Silent	SNP	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl	p.S8	ENST00000366621.3	37	c.24	CCDS1599.1	1																																																																																			KCNK1	-	pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1	ENSG00000135750		0.721	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK1	HGNC	protein_coding	OTTHUMT00000092565.1		0.00	15	0	C	NM_002245		233749941	+1			no_errors	ENST00000366621	ensembl	human	known	74_37	silent	26.92	18	7	SNP	1.000	T
KCNQ2	3785	genome.wustl.edu	37	20	62038490	62038490	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:62038490G>T	ENST00000359125.2	-	17	2300	c.2126C>A	c.(2125-2127)cCt>cAt	p.P709H	KCNQ2_ENST00000360480.3_Missense_Mutation_p.P681H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.P691H|KCNQ2_ENST00000344462.4_Missense_Mutation_p.P678H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.P717H|KCNQ2_ENST00000354587.3_Missense_Mutation_p.P717H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.P709H	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	709					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ACACTGGACAgggggcgcggc	0.716																																																	0													4.0	5.0	5.0					20																	62038490		1997	4044	6041	SO:0001583	missense	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2126C>A	20.37:g.62038490G>T	ENSP00000352035:p.Pro709His		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.P717H	ENST00000359125.2	37	c.2150	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	G	8.879	0.951114	0.18431	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	D;D;D;D;D;D;D;D;D	0.99098	-5.26;-5.41;-5.42;-5.18;-5.41;-5.26;-5.25;-5.34;-5.19	4.82	4.82	0.62117	.	0.811209	0.10919	N	0.619671	D	0.95881	0.8659	N	0.14661	0.345	0.09310	N	1	P;B;B;P	0.37708	0.606;0.429;0.25;0.472	B;B;B;B	0.37692	0.164;0.256;0.186;0.203	D	0.91496	0.5215	10	0.16420	T	0.52	-26.2921	11.0907	0.48115	0.0:0.137:0.7217:0.1413	.	681;691;678;709	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	H	691;709;679;717;709;678;681;705;717	ENSP00000349789:P691H;ENSP00000352035:P709H;ENSP00000359246:P679H;ENSP00000346601:P717H;ENSP00000352718:P709H;ENSP00000399612:P678H;ENSP00000353668:P681H;ENSP00000339611:P705H;ENSP00000359244:P717H	ENSP00000339611:P705H	P	-	2	0	KCNQ2	61508934	0.002000	0.14202	0.161000	0.22692	0.205000	0.24178	0.858000	0.27845	2.241000	0.73720	0.491000	0.48974	CCT	KCNQ2	-	NULL	ENSG00000075043		0.716	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	-	0.00	59	0	G	NM_172109		62038490	-1	tier1	-	no_errors	ENST00000354587	ensembl	human	known	74_37	missense	26.67	33	12	SNP	0.050	T
KEL	3792	genome.wustl.edu	37	7	142639567	142639567	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:142639567C>T	ENST00000355265.2	-	18	2465	c.1991G>A	c.(1990-1992)aGc>aAc	p.S664N		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	664					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGGTCCAGGCTGGGCAGGAC	0.592																																																	0													56.0	39.0	45.0					7																	142639567		2203	4300	6503	SO:0001583	missense	0			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1991G>A	7.37:g.142639567C>T	ENSP00000347409:p.Ser664Asn		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.S664N	ENST00000355265.2	37	c.1991	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	C	0.190	-1.054477	0.01965	.	.	ENSG00000197993	ENST00000355265	D	0.90069	-2.61	4.34	-2.34	0.06704	Peptidase M13, neprilysin, C-terminal (1);	0.658227	0.13943	N	0.352063	T	0.69663	0.3136	N	0.02357	-0.585	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59069	-0.7523	10	0.37606	T	0.19	-6.2289	9.0078	0.36122	0.0:0.5504:0.0:0.4496	.	664	P23276	KELL_HUMAN	N	664	ENSP00000347409:S664N	ENSP00000347409:S664N	S	-	2	0	KEL	142349689	0.000000	0.05858	0.002000	0.10522	0.273000	0.26683	-1.533000	0.02215	-0.335000	0.08451	-0.137000	0.14449	AGC	KEL	-	pfam_Peptidase_M13_C	ENSG00000197993		0.592	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	HGNC	protein_coding	OTTHUMT00000347671.2		0.00	55	0	C	NM_000420		142639567	-1			no_errors	ENST00000355265	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.003	T
KIAA0196	9897	genome.wustl.edu	37	8	126085478	126085478	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:126085478A>T	ENST00000318410.7	-	9	1416	c.1067T>A	c.(1066-1068)cTg>cAg	p.L356Q	KIAA0196_ENST00000517845.1_Missense_Mutation_p.L208Q	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	356					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GATATTGTCCAGAACCATCTC	0.443																																																	0													138.0	116.0	123.0					8																	126085478		2203	4300	6503	SO:0001583	missense	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1067T>A	8.37:g.126085478A>T	ENSP00000318016:p.Leu356Gln		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.L356Q	ENST00000318410.7	37	c.1067	CCDS6355.1	8	.	.	.	.	.	.	.	.	.	.	A	29.3	4.992673	0.93167	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.92099	-2.97;-2.97	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.96451	0.8842	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96933	0.9682	10	0.87932	D	0	-13.5196	16.6154	0.84909	1.0:0.0:0.0:0.0	.	356	Q12768	STRUM_HUMAN	Q	356;208	ENSP00000318016:L356Q;ENSP00000429676:L208Q	ENSP00000318016:L356Q	L	-	2	0	KIAA0196	126154660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.315000	0.78130	0.533000	0.62120	CTG	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.443	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	-	0.00	78	0	A	NM_014846		126085478	-1	tier1	-	no_errors	ENST00000318410	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
KIAA1024	23251	genome.wustl.edu	37	15	79749775	79749775	+	Missense_Mutation	SNP	C	C	A	rs371873445		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:79749775C>A	ENST00000305428.3	+	2	1361	c.1286C>A	c.(1285-1287)gCg>gAg	p.A429E		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	429						integral component of membrane (GO:0016021)		p.A429E(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ATTGCTTATGCGGCAAAACAA	0.473																																																	1	Substitution - Missense(1)	lung(1)											65.0	68.0	67.0					15																	79749775		2196	4293	6489	SO:0001583	missense	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1286C>A	15.37:g.79749775C>A	ENSP00000307461:p.Ala429Glu		A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.A429E	ENST00000305428.3	37	c.1286	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	C	4.175	0.031119	0.08101	.	.	ENSG00000169330	ENST00000305428	T	0.36520	1.25	5.14	-0.00273	0.14028	.	0.561913	0.20695	N	0.087391	T	0.26521	0.0648	L	0.51422	1.61	0.09310	N	1	B	0.24186	0.099	B	0.24974	0.057	T	0.17471	-1.0368	9	.	.	.	.	5.8821	0.18862	0.0:0.5409:0.1222:0.3369	.	429	Q9UPX6	K1024_HUMAN	E	429	ENSP00000307461:A429E	.	A	+	2	0	KIAA1024	77536830	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.920000	0.28705	-0.270000	0.09285	-0.333000	0.08304	GCG	KIAA1024	-	NULL	ENSG00000169330		0.473	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1		0.00	39	0	C	NM_015206		79749775	+1			no_errors	ENST00000305428	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.001	A
KIAA1324L	222223	genome.wustl.edu	37	7	86547820	86547820	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:86547820C>T	ENST00000450689.2	-	12	1716	c.1531G>A	c.(1531-1533)Gga>Aga	p.G511R	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G271R|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G344R|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G511R	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	511						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GTTATTCTTCCTAGTTCAGAA	0.383																																																	0													132.0	112.0	119.0					7																	86547820		2203	4300	6503	SO:0001583	missense	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1531G>A	7.37:g.86547820C>T	ENSP00000413445:p.Gly511Arg		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.G511R	ENST00000450689.2	37	c.1531	CCDS47632.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.798508|4.798508	0.90538|0.90538	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Growth factor, receptor (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78246|0.78246	0.4253|0.4253	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.991;1.0;1.0|.	T|T	0.77109|0.77109	-0.2709|-0.2709	10|5	0.87932|.	D|.	0|.	.|.	19.1274|19.1274	0.93391|0.93391	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	511;271;344|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	R|K	511;271;511;344|471	ENSP00000413445:G511R;ENSP00000297222:G271R;ENSP00000397377:G511R;ENSP00000402390:G344R|.	ENSP00000297222:G271R|.	G|R	-|-	1|2	0|0	KIAA1324L|KIAA1324L	86385756|86385756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.910000|5.910000	0.69931|0.69931	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	GGA|AGG	KIAA1324L	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000164659		0.383	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	-	0.00	67	0	C	NM_152748		86547820	-1	tier1	-	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	24.59	46	15	SNP	1.000	T
KIAA1715	80856	genome.wustl.edu	37	2	176804340	176804340	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:176804340C>T	ENST00000272748.4	-	10	999	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	KIAA1715_ENST00000544803.1_Missense_Mutation_p.R282Q|KIAA1715_ENST00000535310.1_Missense_Mutation_p.R176Q	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	251					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ACCTCGTTCTCGGGGGAGAAT	0.328																																																	0													87.0	86.0	87.0					2																	176804340		2203	4300	6503	SO:0001583	missense	0			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.752G>A	2.37:g.176804340C>T	ENSP00000272748:p.Arg251Gln		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	pfam_DUF2296	p.R282Q	ENST00000272748.4	37	c.845	CCDS33332.1	2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986422	0.93044	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.32	5.32	0.75619	.	0.056651	0.64402	D	0.000002	T	0.72153	0.3425	M	0.79475	2.455	0.80722	D	1	D;P;P;P	0.53462	0.96;0.939;0.559;0.895	P;P;B;B	0.48166	0.569;0.498;0.095;0.367	T	0.77608	-0.2524	9	0.87932	D	0	-7.7837	19.3572	0.94420	0.0:1.0:0.0:0.0	.	253;282;248;251	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	Q	251;253;128;282;176	.	ENSP00000272748:R251Q	R	-	2	0	KIAA1715	176512586	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.176000	0.77643	2.653000	0.90120	0.467000	0.42956	CGA	KIAA1715	-	NULL	ENSG00000144320		0.328	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1715	HGNC	protein_coding	OTTHUMT00000333949.3		0.00	48	0	C	XM_042834		176804340	-1			no_errors	ENST00000544803	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
KIAA1755	85449	genome.wustl.edu	37	20	36869132	36869132	+	Frame_Shift_Del	DEL	G	G	-	rs141704693		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:36869132delG	ENST00000279024.4	-	3	1672	c.1401delC	c.(1399-1401)cccfs	p.P467fs		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	467										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCCCAGGAGTGGGGGGCTCAG	0.557																																																	0													57.0	61.0	60.0					20																	36869132		2203	4300	6503	SO:0001589	frameshift_variant	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1401delC	20.37:g.36869132delG	ENSP00000279024:p.Pro467fs		Q9C0A8	Frame_Shift_Del	DEL	superfamily_CRAL-TRIO_dom	p.T468fs	ENST00000279024.4	37	c.1401	CCDS33467.1	20																																																																																			KIAA1755	-	NULL	ENSG00000149633		0.557	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3		0.00	80	0	G	NM_001029864		36869132	-1	tier1		no_errors	ENST00000279024	ensembl	human	known	74_37	frame_shift_del	31.94	49	23	DEL	0.000	-
KIF20B	9585	genome.wustl.edu	37	10	91528501	91528501	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:91528501A>G	ENST00000371728.3	+	31	5163	c.5098A>G	c.(5098-5100)Ata>Gta	p.I1700V	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.I1730V|KIF20B_ENST00000260753.4_Missense_Mutation_p.I1660V	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1700	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTAGGTTGCCATACGTCCATC	0.363																																																	0													80.0	76.0	78.0					10																	91528501		2203	4300	6503	SO:0001583	missense	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5098A>G	10.37:g.91528501A>G	ENSP00000360793:p.Ile1700Val		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I1730V	ENST00000371728.3	37	c.5188		10	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.445945	0.00178	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.65732	-0.17;-0.17;-0.17	5.7	0.787	0.18596	.	1.270120	0.05485	N	0.555577	T	0.39279	0.1072	N	0.12182	0.205	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15636	-1.0430	10	0.16420	T	0.52	4.064	4.1002	0.10010	0.6265:0.0:0.2317:0.1418	.	1700;1660	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	V	1660;1730;1700	ENSP00000260753:I1660V;ENSP00000411545:I1730V;ENSP00000360793:I1700V	ENSP00000260753:I1660V	I	+	1	0	KIF20B	91518481	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	0.013000	0.13310	-0.105000	0.12132	0.454000	0.30748	ATA	KIF20B	-	NULL	ENSG00000138182		0.363	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	-	0.00	47	0	A	NM_016195		91528501	+1	tier1	-	no_errors	ENST00000416354	ensembl	human	known	74_37	missense	31.82	30	14	SNP	0.108	G
KMT2C	58508	genome.wustl.edu	37	7	151935808	151935808	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:151935808A>C	ENST00000262189.6	-	15	2854	c.2636T>G	c.(2635-2637)aTt>aGt	p.I879S	KMT2C_ENST00000355193.2_Missense_Mutation_p.I879S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	879					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GATGCTCCAAATGGCACTGCC	0.403																																																	0													30.0	32.0	31.0					7																	151935808		2166	4269	6435	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2636T>G	7.37:g.151935808A>C	ENSP00000262189:p.Ile879Ser		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.I879S	ENST00000262189.6	37	c.2636	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505936	0.44558	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83250	-1.7;-1.7	5.53	5.53	0.82687	.	0.000000	0.44688	D	0.000431	T	0.72606	0.3481	N	0.22421	0.69	0.80722	D	1	P	0.48764	0.915	B	0.42062	0.374	T	0.74624	-0.3603	10	0.44086	T	0.13	.	11.0954	0.48141	0.8619:0.0:0.0:0.1381	.	879	Q8NEZ4	MLL3_HUMAN	S	879	ENSP00000262189:I879S;ENSP00000347325:I879S	ENSP00000262189:I879S	I	-	2	0	MLL3	151566741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.343000	0.65976	2.219000	0.72066	0.528000	0.53228	ATT	KMT2C	-	NULL	ENSG00000055609		0.403	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3		0.00	192	0	A			151935808	-1			no_errors	ENST00000355193	ensembl	human	known	74_37	missense	9.52	57	6	SNP	1.000	C
KRT24	192666	genome.wustl.edu	37	17	38854886	38854886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:38854886C>A	ENST00000264651.2	-	7	1434	c.1378G>T	c.(1378-1380)Gaa>Taa	p.E460*		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	460	Tail.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCACCAAATTCTGCAAAACTA	0.458																																					GBM(61;380 1051 14702 23642 31441)												0													100.0	109.0	106.0					17																	38854886		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1378G>T	17.37:g.38854886C>A	ENSP00000264651:p.Glu460*		Q9NXG7	Nonsense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.E460*	ENST00000264651.2	37	c.1378	CCDS11372.1	17	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839775	0.51057	.	.	ENSG00000167916	ENST00000264651	.	.	.	4.18	0.196	0.15159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9512	0.19248	0.0:0.5423:0.0:0.4577	.	.	.	.	X	460	.	ENSP00000264651:E460X	E	-	1	0	KRT24	36108412	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.039000	0.13884	-0.091000	0.12440	0.591000	0.81541	GAA	KRT24	-	NULL	ENSG00000167916		0.458	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	HGNC	protein_coding	OTTHUMT00000257217.1	-	0.00	44	0	C	NM_019016		38854886	-1	tier1	-	no_errors	ENST00000264651	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	0.000	A
KRTAP4-7	100132476	genome.wustl.edu	37	17	39240822	39240822	+	Missense_Mutation	SNP	C	C	T	rs142279857		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:39240822C>T	ENST00000391417.4	+	1	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	177	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgctgcCTGCGTCCAGTCTG	0.657																																																	0																																										SO:0001583	missense	0			AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.364C>T	17.37:g.39240822C>T	ENSP00000375236:p.Arg122Cys		A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R122C	ENST00000391417.4	37	c.364	CCDS45673.1	17	.	.	.	.	.	.	.	.	.	.	.	17.40	3.379466	0.61845	.	.	ENSG00000240871	ENST00000391417	T	0.00611	6.23	3.69	-0.0403	0.13872	.	.	.	.	.	T	0.00496	0.0016	.	.	.	0.09310	N	0.999999	B	0.19200	0.034	B	0.16289	0.015	T	0.45026	-0.9289	8	0.72032	D	0.01	.	4.9853	0.14187	0.3749:0.5078:0.0:0.1172	.	177	Q9BYR0	KRA47_HUMAN	C	122	ENSP00000375236:R122C	ENSP00000375236:R122C	R	+	1	0	KRTAP4-7	36494348	0.209000	0.23505	0.818000	0.32626	0.789000	0.44602	-0.442000	0.06871	0.563000	0.29222	0.305000	0.20034	CGT	KRTAP4-7	-	NULL	ENSG00000240871		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-7	HGNC	protein_coding	OTTHUMT00000257686.1	-	0.00	50	0	C			39240822	+1	tier1	rs142279857	no_errors	ENST00000391417	ensembl	human	known	74_37	missense	88.89	5	40	SNP	0.039	T
KRTAP4-6	81871	genome.wustl.edu	37	17	39296226	39296226	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:39296226G>A	ENST00000345847.4	-	1	513	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	172	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CAGACTGGACGCAGgcagcag	0.657																																																	0																																										SO:0001583	missense	0			AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.514C>T	17.37:g.39296226G>A	ENSP00000328270:p.Arg172Cys		Q9BYR1	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R172C	ENST00000345847.4	37	c.514	CCDS54125.1	17	.	.	.	.	.	.	.	.	.	.	.	5.777	0.327688	0.10956	.	.	ENSG00000198090	ENST00000345847	T	0.01422	4.91	4.66	1.45	0.22620	.	.	.	.	.	T	0.05135	0.0137	M	0.87269	2.87	0.09310	N	1	.	.	.	.	.	.	T	0.13818	-1.0495	7	0.66056	D	0.02	.	5.9713	0.19353	0.0921:0.0:0.3994:0.5085	.	.	.	.	C	172	ENSP00000328270:R172C	ENSP00000328270:R172C	R	-	1	0	KRTAP4-6	36549752	0.002000	0.14202	0.059000	0.19551	0.089000	0.18198	0.438000	0.21559	0.167000	0.19631	-0.259000	0.10710	CGT	KRTAP4-6	-	NULL	ENSG00000198090		0.657	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-6	HGNC	protein_coding	OTTHUMT00000257779.1	-	0.00	317	0	G			39296226	-1	tier1	-	no_errors	ENST00000345847	ensembl	human	known	74_37	missense	28.42	199	79	SNP	0.004	A
LAMA5	3911	genome.wustl.edu	37	20	60903938	60903938	+	Missense_Mutation	SNP	C	C	T	rs200572038		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:60903938C>T	ENST00000252999.3	-	34	4475	c.4409G>A	c.(4408-4410)cGc>cAc	p.R1470H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1470	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGTGGCACAGCGGGAGCAGTC	0.657																																																	0													43.0	47.0	45.0					20																	60903938		2203	4296	6499	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4409G>A	20.37:g.60903938C>T	ENSP00000252999:p.Arg1470His		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,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,pfscan_TNFR/NGFR_Cys_rich_reg	p.R1470H	ENST00000252999.3	37	c.4409	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862453	0.32884	.	.	ENSG00000130702	ENST00000252999	T	0.64260	-0.09	4.34	4.34	0.51931	EGF-like, laminin (4);	0.208574	0.44097	U	0.000499	T	0.60521	0.2275	M	0.79926	2.475	0.80722	D	1	P	0.42584	0.784	B	0.35971	0.215	T	0.68250	-0.5458	10	0.56958	D	0.05	.	11.4868	0.50358	0.0:0.9107:0.0:0.0893	.	1470	O15230	LAMA5_HUMAN	H	1470	ENSP00000252999:R1470H	ENSP00000252999:R1470H	R	-	2	0	LAMA5	60337333	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	1.341000	0.33907	1.935000	0.56089	0.305000	0.20034	CGC	LAMA5	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000130702		0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0.00	87	0	C	NM_005560		60903938	-1	tier1	rs200572038	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
LEPR	3953	genome.wustl.edu	37	1	66102029	66102029	+	Silent	SNP	T	T	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:66102029T>A	ENST00000349533.6	+	20	3014	c.2829T>A	c.(2827-2829)ctT>ctA	p.L943L	LEPR_ENST00000406510.3_Silent_p.L10L	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCTCTCTACTTTCAACAACAG	0.398																																																	0													148.0	142.0	144.0					1																	66102029		2203	4300	6503	SO:0001819	synonymous_variant	0			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2829T>A	1.37:g.66102029T>A			Q6FHL5	Silent	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L943	ENST00000349533.6	37	c.2829	CCDS631.1	1																																																																																			LEPR	-	NULL	ENSG00000116678		0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1		0.00	71	0	T	NM_002303		66102029	+1			no_errors	ENST00000349533	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.000	A
LAMC1	3915	genome.wustl.edu	37	1	183087275	183087275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:183087275G>T	ENST00000258341.4	+	11	2241	c.1984G>T	c.(1984-1986)Gag>Tag	p.E662*		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	662	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GACATACAGTGAGAGAAGTAA	0.348																																																	0													85.0	90.0	88.0					1																	183087275		2203	4300	6503	SO:0001587	stop_gained	0			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1984G>T	1.37:g.183087275G>T	ENSP00000258341:p.Glu662*		Q5VYE7	Nonsense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E662*	ENST00000258341.4	37	c.1984	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	41	9.141579	0.99078	.	.	ENSG00000135862	ENST00000258341	.	.	.	5.0	5.0	0.66597	.	0.051313	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	18.3307	0.90268	0.0:0.0:1.0:0.0	.	.	.	.	X	662	.	ENSP00000258341:E662X	E	+	1	0	LAMC1	181353898	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	7.204000	0.77872	2.317000	0.78254	0.650000	0.86243	GAG	LAMC1	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000135862		0.348	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	-	0.00	67	0	G	NM_002293		183087275	+1	tier1	-	no_errors	ENST00000258341	ensembl	human	known	74_37	nonsense	8.57	32	3	SNP	1.000	T
LEUTX	342900	genome.wustl.edu	37	19	40276679	40276679	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:40276679G>T	ENST00000396841.4	+	3	575	c.411G>T	c.(409-411)aaG>aaT	p.K137N		NM_001143832.1	NP_001137304.1	A8MZ59	LEUTX_HUMAN	leucine twenty homeobox	137					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|kidney(1)|skin(2)	5						AATTTGTAAAGATCTATGACT	0.428																																																	0													108.0	94.0	98.0					19																	40276679		692	1591	2283	SO:0001583	missense	0					19q13.2	2011-06-20			ENSG00000213921	ENSG00000213921		"""Homeoboxes / PRD class"""	31953	protein-coding gene	gene with protein product							Standard	NM_001143832		Approved		uc010xvg.2	A8MZ59		ENST00000396841.4:c.411G>T	19.37:g.40276679G>T	ENSP00000380053:p.Lys137Asn			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,pfscan_Homeobox_dom	p.K137N	ENST00000396841.4	37	c.411		19	.	.	.	.	.	.	.	.	.	.	.	10.84	1.464881	0.26335	.	.	ENSG00000213921	ENST00000396841	D	0.85088	-1.94	3.14	-6.27	0.02026	.	.	.	.	.	T	0.62454	0.2429	N	0.14661	0.345	0.09310	N	1	P	0.34977	0.478	B	0.25987	0.065	T	0.54827	-0.8235	9	0.44086	T	0.13	.	2.5849	0.04828	0.2518:0.1434:0.4629:0.142	.	137	A8MZ59	LEUTX_HUMAN	N	137	ENSP00000380053:K137N	ENSP00000380053:K137N	K	+	3	2	LEUTX	44968519	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.290000	0.08354	-1.759000	0.01313	-0.142000	0.14014	AAG	LEUTX	-	NULL	ENSG00000213921		0.428	LEUTX-001	NOVEL	basic|appris_principal	protein_coding	LEUTX	HGNC	protein_coding	OTTHUMT00000410828.3	-	0.00	35	0	G	XM_001129035		40276679	+1	tier1	-	no_errors	ENST00000396841	ensembl	human	novel	74_37	missense	65.52	10	19	SNP	0.000	T
LGI1	9211	genome.wustl.edu	37	10	95552621	95552621	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:95552621C>T	ENST00000371418.4	+	6	885	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	LGI1_ENST00000371413.3_Missense_Mutation_p.R209C|LGI1_ENST00000542308.1_Missense_Mutation_p.R161C	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	209	LRRCT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ATACAAGAAGCGCAAAATCAA	0.408																																																	0													128.0	130.0	129.0					10																	95552621		2203	4300	6503	SO:0001583	missense	0			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.625C>T	10.37:g.95552621C>T	ENSP00000360472:p.Arg209Cys		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.R209C	ENST00000371418.4	37	c.625	CCDS7431.1	10	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906082	0.72868	.	.	ENSG00000108231	ENST00000542308;ENST00000371418;ENST00000371413	T;T;T	0.78707	-1.2;-0.27;-0.19	5.19	5.19	0.71726	Cysteine-rich flanking region, C-terminal (1);	0.101115	0.64402	D	0.000005	D	0.87450	0.6180	M	0.87269	2.87	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.61800	0.878;0.894;0.676	D	0.87943	0.2718	10	0.46703	T	0.11	-6.3446	13.8285	0.63366	0.1527:0.8473:0.0:0.0	.	161;209;209	O95970-3;O95970-2;O95970	.;.;LGI1_HUMAN	C	161;209;209	ENSP00000440763:R161C;ENSP00000360472:R209C;ENSP00000360467:R209C	ENSP00000360467:R209C	R	+	1	0	LGI1	95542611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.560000	0.60802	2.686000	0.91538	0.650000	0.86243	CGC	LGI1	-	smart_Cys-rich_flank_reg_C	ENSG00000108231		0.408	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1	-	0.00	76	0	C	NM_005097		95552621	+1	tier1	-	no_errors	ENST00000371418	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	T
LINC00668	400643	genome.wustl.edu	37	18	6927513	6927513	+	lincRNA	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:6927513G>A	ENST00000580197.1	-	0	306									long intergenic non-protein coding RNA 668																		agagtggggagaattgcttga	0.448																																																	0																																												0					18p11.31	2012-10-12			ENSG00000265933	ENSG00000265933		"""Long non-coding RNAs"""	44328	non-coding RNA	RNA, long non-coding							Standard	NR_034100		Approved		uc002kni.1		OTTHUMG00000178875		18.37:g.6927513G>A				RNA	SNP	-	NULL	ENST00000580197.1	37	NULL		18																																																																																			LINC00668	-	-	ENSG00000265933		0.448	LINC00668-003	KNOWN	basic	lincRNA	LINC00668	HGNC	lincRNA	OTTHUMT00000443724.1	-	0.00	14	0	G	NR_034100		6927513	-1	tier1	-	no_errors	ENST00000578497	ensembl	human	known	74_37	rna	58.33	5	7	SNP	0.012	A
LINGO2	158038	genome.wustl.edu	37	9	27949442	27949443	+	Frame_Shift_Ins	INS	-	-	T	rs199551773|rs377599950		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:27949442_27949443insT	ENST00000379992.2	-	6	1676_1677	c.1227_1228insA	c.(1225-1230)aaacccfs	p.P410fs	LINGO2_ENST00000308675.3_Frame_Shift_Ins_p.P410fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	410	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAGG	0.49																																																	2	Substitution - Missense(2)	prostate(2)																																								SO:0001589	frameshift_variant	0			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1228dupA	9.37:g.27949448_27949448dupT	ENSP00000369328:p.Pro410fs		A8K4K7|B2RPM5|Q6ZMD0	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P409fs	ENST00000379992.2	37	c.1228_1227	CCDS6524.1	9																																																																																			LINGO2	-	NULL	ENSG00000174482		0.490	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2		0.00	69	0	-	NM_152570		27949443	-1	tier1		no_errors	ENST00000308675	ensembl	human	known	74_37	frame_shift_ins	9.38	29	3	INS	1.000:1.000	T
LMX1B	4010	genome.wustl.edu	37	9	129453201	129453201	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:129453201T>C	ENST00000373474.4	+	3	420	c.413T>C	c.(412-414)cTg>cCg	p.L138P	LMX1B_ENST00000355497.5_Missense_Mutation_p.L138P|LMX1B_ENST00000561065.1_Missense_Mutation_p.L115P|LMX1B_ENST00000425646.2_Missense_Mutation_p.L115P|LMX1B_ENST00000526117.1_Missense_Mutation_p.L138P			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	138	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						GTGTACCACCTGGGCTGCTTC	0.627									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)												0													81.0	65.0	70.0					9																	129453201		2203	4300	6503	SO:0001583	missense	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.413T>C	9.37:g.129453201T>C	ENSP00000362573:p.Leu138Pro		F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.L138P	ENST00000373474.4	37	c.413	CCDS55342.1	9	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785579	0.90282	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.0	5.0	0.66597	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.91126	0.7206	L	0.49699	1.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.994	D	0.92047	0.5645	10	0.87932	D	0	.	13.8887	0.63724	0.0:0.0:0.0:1.0	.	115;115;138	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	P	138;138;138;115	ENSP00000436930:L138P;ENSP00000362573:L138P;ENSP00000347684:L138P;ENSP00000390923:L115P	ENSP00000347684:L138P	L	+	2	0	LMX1B	128493022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.030000	0.88816	1.857000	0.53885	0.402000	0.26972	CTG	LMX1B	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000136944		0.627	LMX1B-002	KNOWN	basic|CCDS	protein_coding	LMX1B	HGNC	protein_coding	OTTHUMT00000054123.2	-	0.00	76	0	T			129453201	+1	tier1	-	no_errors	ENST00000355497	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	C
LINC01410	103352539	genome.wustl.edu	37	9	66466327	66466327	+	lincRNA	DEL	G	G	-	rs58593495	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:66466327delG	ENST00000424345.1	+	0	960																											agcaggtccaggaatgcactt	0.483													|||unknown(NO_COVERAGE)	2677	0.534545	0.5023	0.5447	5008	,	,		41720	0.5357		0.5447	False		,,,				2504	0.5593																0																																												0																															9.37:g.66466327delG				RNA	DEL	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-	ENSG00000238113		0.483	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1		0.00	9	0	G			66466327	+1	tier1		no_errors	ENST00000424345	ensembl	human	known	74_37	rna	50.00	4	4	DEL	0.090	-
CACNA1B	774	genome.wustl.edu	37	9	140777413	140777413	+	Intron	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:140777413C>T	ENST00000371372.1	+	3	675				CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000277551.2_Intron|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						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)	CGCCGTGGAGCTGGGGCAGCT	0.637																																																	0																																										SO:0001627	intron_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.530+78C>T	9.37:g.140777413C>T			B1AQK5	RNA	SNP	-	NULL	ENST00000371372.1	37	NULL	CCDS59522.1	9																																																																																			RP11-188C12.3	-	-	ENSG00000203987		0.637	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	LOC100133077	Clone_based_vega_gene	protein_coding	OTTHUMT00000055380.1	-	0.00	41	0	C	NM_000718		140777413	-1	tier1	-	no_errors	ENST00000371390	ensembl	human	known	74_37	rna	13.79	25	4	SNP	0.003	T
LINC01116	375295	genome.wustl.edu	37	2	177502196	177502196	+	lincRNA	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:177502196G>T	ENST00000295549.4	-	0	463				AC017048.4_ENST00000443670.1_lincRNA	NR_040001.1																						AAACCTGAGCGGGGCTTTCGG	0.557																																																	0																																												0																															2.37:g.177502196G>T				RNA	SNP	-	NULL	ENST00000295549.4	37	NULL		2																																																																																			AC017048.3	-	-	ENSG00000163364		0.557	AC017048.3-001	KNOWN	basic|exp_conf	lincRNA	LOC375295	Clone_based_vega_gene	lincRNA	OTTHUMT00000334153.2	-	0.00	107	0	G			177502196	-1	tier1	-	no_errors	ENST00000295549	ensembl	human	known	74_37	rna	5.19	73	4	SNP	0.871	T
LONRF3	79836	genome.wustl.edu	37	X	118148249	118148249	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:118148249T>C	ENST00000371628.3	+	10	2085	c.2054T>C	c.(2053-2055)cTc>cCc	p.L685P	LONRF3_ENST00000304778.7_Missense_Mutation_p.L644P|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.L429P	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	685	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TTTCATTCGCTCAAATTATCC	0.423																																																	0													269.0	221.0	237.0					X																	118148249		2203	4300	6503	SO:0001583	missense	0			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.2054T>C	X.37:g.118148249T>C	ENSP00000360690:p.Leu685Pro		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.L685P	ENST00000371628.3	37	c.2054	CCDS35374.1	X	.	.	.	.	.	.	.	.	.	.	T	19.92	3.917088	0.73098	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289	D;D;D;D	0.87029	-1.75;-1.75;-1.56;-2.2	5.7	5.7	0.88788	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.000000	0.64402	D	0.000001	D	0.93989	0.8075	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.94764	0.7939	10	0.72032	D	0.01	-38.8377	13.99	0.64359	0.0:0.0:0.0:1.0	.	429;644;685	B3KUN7;Q496Y0-2;Q496Y0	.;.;LONF3_HUMAN	P	644;644;685;429	ENSP00000360691:L644P;ENSP00000307732:L644P;ENSP00000360690:L685P;ENSP00000408894:L429P	ENSP00000307732:L644P	L	+	2	0	LONRF3	118032277	1.000000	0.71417	0.491000	0.27477	0.658000	0.38924	8.040000	0.89188	1.901000	0.55032	0.486000	0.48141	CTC	LONRF3	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N	ENSG00000175556		0.423	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF3	HGNC	protein_coding	OTTHUMT00000355124.2	-	0.00	27	0	T	NM_024778		118148249	+1	tier1	-	no_errors	ENST00000371628	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	C
LRCH4	4034	genome.wustl.edu	37	7	100173586	100173586	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:100173586C>T	ENST00000310300.6	-	16	1736	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	LRCH4_ENST00000497245.1_Missense_Mutation_p.E110K|SAP25_ENST00000538735.1_5'Flank	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	562	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGAGCCTCGGCCAGGTCC	0.667																																																	0													13.0	15.0	14.0					7																	100173586		2197	4293	6490	SO:0001583	missense	0			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1684G>A	7.37:g.100173586C>T	ENSP00000309689:p.Glu562Lys		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.E562K	ENST00000310300.6	37	c.1684	CCDS34706.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.376644|4.376644	0.82682|0.82682	.|.	.|.	ENSG00000077454|ENSG00000077454	ENST00000422462|ENST00000310300;ENST00000497245	.|D;D	.|0.94723	.|-3.5;-3.5	4.4|4.4	4.4|4.4	0.53042|0.53042	.|Calponin homology domain (5);	.|0.119823	.|0.56097	.|D	.|0.000037	.|D	.|0.95198	.|0.8443	L|L	0.59912|0.59912	1.85|1.85	0.47214|0.47214	D|D	0.999353|0.999353	.|D;D	.|0.67145	.|0.996;0.98	.|P;B	.|0.58130	.|0.833;0.43	.|D	.|0.95090	.|0.8221	.|10	.|0.66056	.|D	.|0.02	.|-22.4403	12.724|12.724	0.57159|0.57159	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|110;562	.|C9JYK0;O75427	.|.;LRCH4_HUMAN	.|K	-1|562;110	.|ENSP00000309689:E562K;ENSP00000419870:E110K	.|ENSP00000309689:E562K	.|E	-|-	.|1	.|0	LRCH4|LRCH4	100011522|100011522	0.405000|0.405000	0.25336|0.25336	0.904000|0.904000	0.35570|0.35570	0.975000|0.975000	0.68041|0.68041	5.346000|5.346000	0.65992|0.65992	2.463000|2.463000	0.83235|0.83235	0.555000|0.555000	0.69702|0.69702	.|GAG	LRCH4	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000077454		0.667	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRCH4	HGNC	protein_coding	OTTHUMT00000356110.1	-	0.00	61	0	C	NM_002319		100173586	-1	tier1	-	no_errors	ENST00000310300	ensembl	human	known	74_37	missense	21.43	77	21	SNP	0.967	T
LRRC16B	90668	genome.wustl.edu	37	14	24524824	24524824	+	Silent	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:24524824G>T	ENST00000342740.5	+	9	832	c.678G>T	c.(676-678)cgG>cgT	p.R226R	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	226						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		AGGACTTGCGGCTGGTAGGAA	0.587																																																	0													103.0	105.0	104.0					14																	24524824		2203	4300	6503	SO:0001819	synonymous_variant	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.678G>T	14.37:g.24524824G>T			Q8TEF7|Q96HS9	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R226	ENST00000342740.5	37	c.678	CCDS32054.1	14																																																																																			LRRC16B	-	NULL	ENSG00000186648		0.587	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	-	0.00	107	0	G	NM_138360		24524824	+1	tier1	-	no_errors	ENST00000342740	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.628	T
LRRC69	100130742	genome.wustl.edu	37	8	92139365	92139365	+	Silent	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:92139365G>T	ENST00000448384.2	+	3	360	c.360G>T	c.(358-360)acG>acT	p.T120T	LRRC69_ENST00000343709.3_Intron	NM_001129890.1	NP_001123362.1	Q6ZNQ3	LRC69_HUMAN	leucine rich repeat containing 69	120										endometrium(1)	1						ATCATCTTACGCAGCTTCCTC	0.363																																																	0													111.0	101.0	104.0					8																	92139365		692	1591	2283	SO:0001819	synonymous_variant	0			AK130865		8q21.3	2010-07-14			ENSG00000214954	ENSG00000214954			34303	protein-coding gene	gene with protein product							Standard	NM_001129890		Approved		uc010mal.1	Q6ZNQ3	OTTHUMG00000164023	ENST00000448384.2:c.360G>T	8.37:g.92139365G>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T120	ENST00000448384.2	37	c.360		8																																																																																			LRRC69	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000214954		0.363	LRRC69-007	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	LRRC69	HGNC	protein_coding	OTTHUMT00000415207.1		0.00	39	0	G	NM_001129890		92139365	+1			no_errors	ENST00000448384	ensembl	human	novel	74_37	silent	5.13	37	2	SNP	0.000	T
LSS	4047	genome.wustl.edu	37	21	47635094	47635094	+	Splice_Site	SNP	C	C	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr21:47635094C>G	ENST00000397728.3	-	9	1089	c.1011G>C	c.(1009-1011)ccG>ccC	p.P337P	LSS_ENST00000356396.4_Splice_Site_p.P337P|LSS_ENST00000457828.2_Splice_Site_p.P257P|LSS_ENST00000464357.1_5'Flank|LSS_ENST00000522411.1_Splice_Site_p.P326P	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	337					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGGCACTGACCGGGCCGATGC	0.642																																					Pancreas(114;955 2313 34923 50507)												0													58.0	59.0	59.0					21																	47635094		2203	4300	6503	SO:0001630	splice_region_variant	0			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1011+1G>C	21.37:g.47635094C>G			B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Silent	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	p.P337	ENST00000397728.3	37	c.1011	CCDS13733.1	21																																																																																			LSS	-	superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	ENSG00000160285		0.642	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	HGNC	protein_coding	OTTHUMT00000207274.2	-	0.00	61	0	C		Silent	47635094	-1	tier1	-	no_errors	ENST00000356396	ensembl	human	known	74_37	silent	54.17	22	26	SNP	1.000	G
MAS1	4142	genome.wustl.edu	37	6	160328869	160328869	+	Silent	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:160328869C>A	ENST00000252660.4	+	1	896	c.882C>A	c.(880-882)tcC>tcA	p.S294S		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	294					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCAAGGAGTCCTTAAAAGTTG	0.438																																																	0													90.0	93.0	92.0					6																	160328869		2203	4300	6503	SO:0001819	synonymous_variant	0			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.882C>A	6.37:g.160328869C>A			E1P5B3|Q2TBC9|Q6FG47	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn	p.S294	ENST00000252660.4	37	c.882	CCDS5272.1	6																																																																																			MAS1	-	prints_Proto-oncogene_Mas	ENSG00000130368		0.438	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1	HGNC	protein_coding	OTTHUMT00000042930.2	-	0.00	31	0	C	NM_002377		160328869	+1	tier1	-	no_errors	ENST00000252660	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.986	A
MCC	4163	genome.wustl.edu	37	5	112399790	112399790	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:112399790C>A	ENST00000302475.4	-	12	2097	c.1534G>T	c.(1534-1536)Gct>Tct	p.A512S	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.A449S|MCC_ENST00000408903.3_Missense_Mutation_p.A702S	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	512					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCTTGGCAGCGTTCTCAGCT	0.602																																																	0													69.0	66.0	67.0					5																	112399790		2202	4300	6502	SO:0001583	missense	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1534G>T	5.37:g.112399790C>A	ENSP00000305617:p.Ala512Ser		D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.A512S	ENST00000302475.4	37	c.1534	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336402	0.81801	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.35973	2.45;2.45;1.28	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	N	0.14661	0.345	0.80722	D	1	D;D;D	0.71674	0.993;0.998;0.993	D;D;D	0.81914	0.964;0.995;0.964	T	0.16394	-1.0404	10	0.08837	T	0.75	-12.6854	19.3534	0.94401	0.0:1.0:0.0:0.0	.	512;702;512	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	S	512;449;702	ENSP00000305617:A512S;ENSP00000421615:A449S;ENSP00000386227:A702S	ENSP00000305617:A512S	A	-	1	0	MCC	112427689	1.000000	0.71417	0.971000	0.41717	0.990000	0.78478	6.147000	0.71783	2.557000	0.86248	0.563000	0.77884	GCT	MCC	-	NULL	ENSG00000171444		0.602	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	-	0.00	30	0	C	NM_001085377		112399790	-1	tier1	-	no_errors	ENST00000302475	ensembl	human	known	74_37	missense	31.82	15	7	SNP	1.000	A
MCM10	55388	genome.wustl.edu	37	10	13206206	13206206	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:13206206G>A	ENST00000484800.2	+	2	107	c.4G>A	c.(4-6)Gat>Aat	p.D2N	MCM10_ENST00000378714.3_Missense_Mutation_p.D2N|MCM10_ENST00000378694.1_Missense_Mutation_p.D2N			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	2	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TGACAGCATGGATGGTAAGAC	0.408																																																	0													140.0	120.0	127.0					10																	13206206		2203	4300	6503	SO:0001583	missense	0			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.4G>A	10.37:g.13206206G>A	ENSP00000418268:p.Asp2Asn		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.D2N	ENST00000484800.2	37	c.4	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754746	0.49362	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.15952	2.39;2.39;2.38	4.5	4.5	0.54988	.	1.802070	0.02818	N	0.125193	T	0.29588	0.0738	N	0.16478	0.41	0.34465	D	0.702208	D;D;D	0.71674	0.997;0.998;0.997	P;D;P	0.66979	0.888;0.948;0.888	T	0.12863	-1.0531	10	0.38643	T	0.18	-0.3493	12.9299	0.58280	0.0:0.0:1.0:0.0	.	2;2;2	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	N	2	ENSP00000367986:D2N;ENSP00000418268:D2N;ENSP00000367966:D2N	ENSP00000354945:D2N	D	+	1	0	MCM10	13246212	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	0.956000	0.29202	2.498000	0.84270	0.655000	0.94253	GAT	MCM10	-	NULL	ENSG00000065328		0.408	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	-	0.00	69	0	G	NM_182751		13206206	+1	tier1	-	no_errors	ENST00000484800	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A
MED23	9439	genome.wustl.edu	37	6	131915385	131915385	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:131915385G>A	ENST00000368068.3	-	23	3265	c.3086C>T	c.(3085-3087)gCg>gTg	p.A1029V	MED23_ENST00000545957.1_Missense_Mutation_p.A670V|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Missense_Mutation_p.A1029V|MED23_ENST00000368058.1_Missense_Mutation_p.A1035V|MED23_ENST00000354577.4_Missense_Mutation_p.A1035V|MED23_ENST00000403834.3_Missense_Mutation_p.A1035V	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1029					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCCAATGATCGCATGGACGAG	0.463																																																	0													116.0	97.0	103.0					6																	131915385		2203	4300	6503	SO:0001583	missense	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3086C>T	6.37:g.131915385G>A	ENSP00000357047:p.Ala1029Val		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.A1035V	ENST00000368068.3	37	c.3104	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672821	0.88445	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	L	0.43923	1.385	0.80722	D	1	B;D;D	0.59767	0.157;0.986;0.982	B;P;P	0.54100	0.047;0.742;0.625	T	0.74842	-0.3527	10	0.41790	T	0.15	-16.9564	20.8794	0.99867	0.0:0.0:1.0:0.0	.	670;1029;1035	B4E3G4;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	V	1035;1029;1035;1029;1035;670	ENSP00000346588:A1035V;ENSP00000357047:A1029V;ENSP00000384536:A1035V;ENSP00000357039:A1029V;ENSP00000357037:A1035V;ENSP00000439977:A670V	ENSP00000346588:A1035V	A	-	2	0	MED23	131957078	1.000000	0.71417	0.968000	0.41197	0.930000	0.56654	9.553000	0.98118	2.941000	0.99782	0.655000	0.94253	GCG	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.463	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	-	0.00	34	0	G			131915385	-1	tier1	-	no_errors	ENST00000368058	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A
MFAP5	8076	genome.wustl.edu	37	12	8800754	8800754	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:8800754C>T	ENST00000359478.2	-	10	642	c.455G>A	c.(454-456)cGt>cAt	p.R152H	MFAP5_ENST00000396549.2_Missense_Mutation_p.R142H|MFAP5_ENST00000543369.1_Missense_Mutation_p.R130H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R127H|MFAP5_ENST00000540087.1_Missense_Mutation_p.R142H|MFAP5_ENST00000535336.1_Missense_Mutation_p.R88H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	152					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ATTGGAGCGACGGAGTCTCCT	0.453																																																	0													78.0	76.0	77.0					12																	8800754		2203	4300	6503	SO:0001583	missense	0			AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.455G>A	12.37:g.8800754C>T	ENSP00000352455:p.Arg152His		B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	pfam_MAGP	p.R152H	ENST00000359478.2	37	c.455	CCDS8595.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.36|19.36	3.813113|3.813113	0.70912|0.70912	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000543467;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000535336;ENST00000540087|ENST00000535411	.|.	.|.	.|.	4.79|4.79	1.98|1.98	0.26296|0.26296	.|.	0.151689|.	0.41001|.	N|.	0.000979|.	T|T	0.30634|0.30634	0.0771|0.0771	L|L	0.29908|0.29908	0.895|0.895	0.28041|0.28041	N|N	0.933734|0.933734	D;D;D|.	0.64830|.	0.994;0.994;0.994|.	P;P;P|.	0.51016|.	0.656;0.656;0.656|.	T|T	0.22765|0.22765	-1.0207|-1.0207	9|5	0.87932|.	D|.	0|.	-12.7388|-12.7388	6.2914|6.2914	0.21061|0.21061	0.0:0.6967:0.0:0.3033|0.0:0.6967:0.0:0.3033	.|.	127;152;142|.	B3KW70;Q13361;Q7Z490|.	.;MFAP5_HUMAN;.|.	H|I	58;152;127;142;130;88;142|142	.|.	ENSP00000352455:R152H|.	R|V	-|-	2|1	0|0	MFAP5|MFAP5	8692021|8692021	0.879000|0.879000	0.30193|0.30193	0.649000|0.649000	0.29536|0.29536	0.964000|0.964000	0.63967|0.63967	1.443000|1.443000	0.35057|0.35057	0.739000|0.739000	0.32628|0.32628	0.563000|0.563000	0.77884|0.77884	CGT|GTC	MFAP5	-	NULL	ENSG00000197614		0.453	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP5	HGNC	protein_coding	OTTHUMT00000400656.2	-	0.00	26	0	C	NM_003480		8800754	-1	tier1	-	no_errors	ENST00000359478	ensembl	human	known	74_37	missense	48.39	16	15	SNP	0.442	T
MGA	23269	genome.wustl.edu	37	15	41961511	41961511	+	Missense_Mutation	SNP	G	G	A	rs528733174	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:41961511G>A	ENST00000570161.1	+	1	419	c.419G>A	c.(418-420)cGt>cAt	p.R140H	MGA_ENST00000566586.1_Missense_Mutation_p.R140H|MGA_ENST00000389936.4_Missense_Mutation_p.R140H|MGA_ENST00000219905.7_Missense_Mutation_p.R140H|MGA_ENST00000568630.1_Intron|MGA_ENST00000545763.1_Missense_Mutation_p.R140H			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)	p.R140H(1)		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)	TGGAATGGTCGTTGGTGGGAA	0.408													G|||	2	0.000399361	0.0008	0.0	5008	,	,		22021	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)											285.0	283.0	283.0					15																	41961511		1885	4097	5982	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.419G>A	15.37:g.41961511G>A	ENSP00000457035:p.Arg140His		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.R140H	ENST00000570161.1	37	c.419	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405443	0.62288	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.89617	-2.54;-2.54;-2.54	5.52	5.52	0.82312	.	0.331625	0.28555	N	0.014933	D	0.89090	0.6616	N	0.21282	0.65	0.36725	D	0.881382	D;D	0.89917	0.999;1.0	D;D	0.71414	0.929;0.973	D	0.90710	0.4627	10	0.87932	D	0	.	10.2891	0.43586	0.1466:0.0:0.8534:0.0	.	140;140	F5H7K2;E7ENI0	.;.	H	140	ENSP00000219905:R140H;ENSP00000374586:R140H;ENSP00000442467:R140H	ENSP00000219905:R140H	R	+	2	0	MGA	39748803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.293000	0.51779	2.767000	0.95098	0.655000	0.94253	CGT	MGA	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000174197		0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0.00	77	0	G	NM_001164273.1		41961511	+1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.998	A
MIR654	724024	genome.wustl.edu	37	14	101507721	101507721	+	RNA	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:101507721C>T	ENST00000385199.1	+	0	81				MIR300_ENST00000401138.1_RNA|MIR376A1_ENST00000584362.1_RNA|MIR1185-2_ENST00000408687.1_RNA|MIR1185-1_ENST00000408598.1_RNA|MIR376C_ENST00000607441.1_RNA|AL132709.2_ENST00000579587.1_RNA	NR_030390.1				microRNA 654																		GAGAGGTAATCCTTCACGCAT	0.498																																																	0													204.0	178.0	186.0					14																	101507721		1568	3582	5150			0					14q32.31	2011-09-12		2008-12-18	ENSG00000207934	ENSG00000207934		"""ncRNAs / Micro RNAs"""	32910	non-coding RNA	RNA, micro				MIRN654			Standard	NR_030390		Approved	hsa-mir-654	uc021sda.1				14.37:g.101507721C>T				RNA	SNP	-	NULL	ENST00000385199.1	37	NULL		14																																																																																			MIR300	-	-	ENSG00000215957		0.498	MIR654-201	KNOWN	basic	miRNA	MIR300	HGNC	miRNA		-	0.00	43	0	C	NR_030390		101507721	+1	tier1	-	no_errors	ENST00000401138	ensembl	human	known	74_37	rna	54.05	17	20	SNP	0.002	T
MMP16	4325	genome.wustl.edu	37	8	89131076	89131076	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:89131076G>T	ENST00000286614.6	-	5	1005	c.724C>A	c.(724-726)Ctt>Att	p.L242I	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	242					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ACTGCTACAAGAAATAAGTCA	0.368																																																	0													90.0	84.0	86.0					8																	89131076		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.724C>A	8.37:g.89131076G>T	ENSP00000286614:p.Leu242Ile		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.L242I	ENST00000286614.6	37	c.724	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950690	0.73787	.	.	ENSG00000156103	ENST00000286614	T	0.24151	1.87	5.34	5.34	0.76211	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.71206	2.165	0.58432	D	0.999999	P;D	0.61080	0.928;0.989	P;D	0.71414	0.878;0.973	T	0.51513	-0.8696	10	0.52906	T	0.07	.	19.0451	0.93016	0.0:0.0:1.0:0.0	.	242;242	P51512-2;P51512	.;MMP16_HUMAN	I	242	ENSP00000286614:L242I	ENSP00000286614:L242I	L	-	1	0	MMP16	89200192	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	6.347000	0.73004	2.489000	0.83994	0.557000	0.71058	CTT	MMP16	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000156103		0.368	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	-	0.00	40	0	G	NM_005941		89131076	-1	tier1	-	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
MN1	4330	genome.wustl.edu	37	22	28196380	28196380	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr22:28196380G>A	ENST00000302326.4	-	1	1106	c.152C>T	c.(151-153)gCt>gTt	p.A51V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	51					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCGCTCATAGCAGGATCCAC	0.647			T	ETV6	"""AML, meningioma"""																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0													55.0	62.0	60.0					22																	28196380		1912	4117	6029	SO:0001583	missense	0			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.152C>T	22.37:g.28196380G>A	ENSP00000304956:p.Ala51Val		A9Z1V9	Missense_Mutation	SNP	NULL	p.A51V	ENST00000302326.4	37	c.152	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830427	0.50845	.	.	ENSG00000169184	ENST00000302326	T	0.72505	-0.66	4.74	3.69	0.42338	.	0.134339	0.49916	D	0.000132	T	0.56352	0.1979	N	0.19112	0.55	0.30923	N	0.727811	B	0.22414	0.069	B	0.21360	0.034	T	0.60255	-0.7299	10	0.59425	D	0.04	-8.1729	13.6175	0.62118	0.0:0.1574:0.8426:0.0	.	51	Q10571	MN1_HUMAN	V	51	ENSP00000304956:A51V	ENSP00000304956:A51V	A	-	2	0	MN1	26526380	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	3.083000	0.50136	1.057000	0.40506	0.462000	0.41574	GCT	MN1	-	NULL	ENSG00000169184		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1		0.00	31	0	G	NM_002430		28196380	-1			no_errors	ENST00000302326	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	A
MPP7	143098	genome.wustl.edu	37	10	28378763	28378763	+	Silent	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:28378763A>G	ENST00000375732.1	-	12	1219	c.960T>C	c.(958-960)ttT>ttC	p.F320F	MPP7_ENST00000445954.2_Silent_p.F195F|MPP7_ENST00000337532.5_Silent_p.F320F|MPP7_ENST00000540098.1_Silent_p.F320F|MPP7_ENST00000375719.3_Silent_p.F320F			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	320					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AACTTTTTCTAAAACCAGCTG	0.308																																																	0													84.0	74.0	77.0					10																	28378763		2203	4300	6503	SO:0001819	synonymous_variant	0			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.960T>C	10.37:g.28378763A>G			B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain	p.F320	ENST00000375732.1	37	c.960	CCDS7158.1	10																																																																																			MPP7	-	superfamily_SH3_domain	ENSG00000150054		0.308	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1	-	0.00	46	0	A	NM_173496		28378763	-1	tier1	-	no_errors	ENST00000337532	ensembl	human	known	74_37	silent	12.00	22	3	SNP	1.000	G
MT-CO1	4512	genome.wustl.edu	37	M	6573	6573	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrM:6573delG	ENST00000361624.2	+	1	670	c.670delG	c.(670-672)ggafs	p.G226fs	MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	226					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|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 IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TCGACCCCGCCGGAGGAGGAG	0.483																																																	0																																										SO:0001589	frameshift_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.670delG	M.37:g.6573delG	ENSP00000354499:p.Gly226fs		Q34770	Frame_Shift_Del	DEL	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.G224fs	ENST00000361624.2	37	c.670		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom	ENSG00000198804		0.483	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding			0.00	66	0	G	YP_003024028		6573	+1	tier1		no_errors	ENST00000361624	ensembl	human	known	74_37	frame_shift_del	25.00	6	2	DEL	NULL	-
MT-ND5	4540	genome.wustl.edu	37	M	13528	13528	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrM:13528A>T	ENST00000361567.2	+	1	1192	c.1192A>T	c.(1192-1194)Acc>Tcc	p.T398S	MT-CYB_ENST00000361789.2_5'Flank|MT-TP_ENST00000387461.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	398					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						ACATCATCGAAACCGCAAACA	0.468																																																	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.1192A>T	M.37:g.13528A>T	ENSP00000354813:p.Thr398Ser		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.T398S	ENST00000361567.2	37	c.1192		MT																																																																																			MT-ND5	-	tigrfam_NADHpl_OxRdtase_5	ENSG00000198786		0.468	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		-	0.00	49	0	A	YP_003024036		13528	+1	tier1	-	no_errors	ENST00000361567	ensembl	human	known	74_37	missense	33.33	3	2	SNP	NULL	T
MT-ND5	4540	genome.wustl.edu	37	M	13581	13581	+	Silent	SNP	T	T	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrM:13581T>A	ENST00000361567.2	+	1	1245	c.1245T>A	c.(1243-1245)gcT>gcA	p.A415A	MT-CYB_ENST00000361789.2_5'Flank|MT-TP_ENST00000387461.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	415					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						ACTCTCATCGCTACCTCCCTG	0.458																																																	0																																										SO:0001819	synonymous_variant	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.1245T>A	M.37:g.13581T>A			Q34773|Q8WCY3	Silent	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.A415	ENST00000361567.2	37	c.1245		MT																																																																																			MT-ND5	-	tigrfam_NADHpl_OxRdtase_5	ENSG00000198786		0.458	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		-	0.00	47	0	T	YP_003024036		13581	+1	tier1	-	no_errors	ENST00000361567	ensembl	human	known	74_37	silent	40.00	3	2	SNP	NULL	A
MTA3	57504	genome.wustl.edu	37	2	42909546	42909546	+	Missense_Mutation	SNP	C	C	G	rs187836014	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:42909546C>G	ENST00000405094.1	+	9	708	c.708C>G	c.(706-708)caC>caG	p.H236Q	MTA3_ENST00000406652.1_Missense_Mutation_p.H180Q|MTA3_ENST00000407270.3_Missense_Mutation_p.H236Q|MTA3_ENST00000406911.1_Missense_Mutation_p.H236Q|MTA3_ENST00000405592.1_Missense_Mutation_p.H180Q			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	236	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TTTAGTTTCACGCTATGGATA	0.338																																																	0													88.0	83.0	85.0					2																	42909546		1874	4094	5968	SO:0001583	missense	0			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.708C>G	2.37:g.42909546C>G	ENSP00000385823:p.His236Gln		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.H236Q	ENST00000405094.1	37	c.708		2	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836742	0.50951	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.48522	0.81;0.81;0.83;0.83;0.82	5.14	-1.48E-4	0.14039	.	0.052996	0.85682	D	0.000000	T	0.60366	0.2263	M	0.73962	2.25	0.50813	D	0.999893	P;P;D	0.56521	0.611;0.73;0.976	B;B;P	0.60789	0.241;0.421;0.879	T	0.61598	-0.7030	10	0.62326	D	0.03	-8.8256	10.9483	0.47315	0.0:0.2703:0.0:0.7297	.	236;236;180	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	Q	180;180;236;236;236;236	ENSP00000383973:H180Q;ENSP00000384249:H180Q;ENSP00000385045:H236Q;ENSP00000385241:H236Q;ENSP00000385823:H236Q	ENSP00000282366:H236Q	H	+	3	2	MTA3	42763050	0.996000	0.38824	0.997000	0.53966	0.952000	0.60782	0.309000	0.19332	-0.104000	0.12154	-1.405000	0.01134	CAC	MTA3	-	pfscan_ELM2_dom	ENSG00000057935		0.338	MTA3-017	KNOWN	basic	protein_coding	MTA3	HGNC	protein_coding	OTTHUMT00000318159.1	-	0.00	49	0	C	NM_020744		42909546	+1	tier1	-	no_errors	ENST00000405094	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.998	G
MUC13	56667	genome.wustl.edu	37	3	124646709	124646709	+	Missense_Mutation	SNP	G	G	A	rs75727765		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:124646709G>A	ENST00000311075.3	-	2	219	c.181C>T	c.(181-183)Cct>Tct	p.P61S	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	61	Thr-rich.				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						GTTGGGAAAGGTGTATTTGCT	0.458																																																	0													211.0	210.0	211.0					3																	124646709		2203	4300	6503	SO:0001583	missense	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.181C>T	3.37:g.124646709G>A	ENSP00000312235:p.Pro61Ser		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	pfam_SEA_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.P61S	ENST00000311075.3	37	c.181		3	.	.	.	.	.	.	.	.	.	.	g	2.803	-0.248730	0.05867	.	.	ENSG00000173702	ENST00000311075	T	0.13089	2.62	2.04	-4.08	0.03963	.	1.726750	0.03707	N	0.249513	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.32409	0.37	B	0.30646	0.118	T	0.25502	-1.0130	10	0.08837	T	0.75	-1.1529	6.1417	0.20263	0.0:0.1432:0.6122:0.2446	.	61	Q9H3R2	MUC13_HUMAN	S	61	ENSP00000312235:P61S	ENSP00000312235:P61S	P	-	1	0	MUC13	126129399	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.112000	0.10791	-1.159000	0.02807	-0.283000	0.09986	CCT	MUC13	-	NULL	ENSG00000173702		0.458	MUC13-001	KNOWN	basic|appris_principal	protein_coding	MUC13	HGNC	protein_coding	OTTHUMT00000355714.1		0.00	64	0	G	NM_033049		124646709	-1			no_errors	ENST00000311075	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.000	A
MUC16	94025	genome.wustl.edu	37	19	9083708	9083708	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:9083708T>G	ENST00000397910.4	-	1	8310	c.8107A>C	c.(8107-8109)Agt>Cgt	p.S2703R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2703	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						TCTGGGTTACTTACTGTCTTA	0.483																																																	0													119.0	111.0	114.0					19																	9083708		1920	4138	6058	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.8107A>C	19.37:g.9083708T>G	ENSP00000381008:p.Ser2703Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S2703R	ENST00000397910.4	37	c.8107	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	9.289	1.050103	0.19827	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	0.235	0.235	0.15431	.	.	.	.	.	T	0.03783	0.0107	N	0.08118	0	.	.	.	D	0.58970	0.984	P	0.61070	0.883	T	0.45862	-0.9232	7	0.87932	D	0	.	.	.	.	.	2703	B5ME49	.	R	2703	ENSP00000381008:S2703R	ENSP00000381008:S2703R	S	-	1	0	MUC16	8944708	0.671000	0.27521	0.745000	0.31077	0.748000	0.42578	0.310000	0.19356	0.263000	0.21812	0.260000	0.18958	AGT	MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	52	0	T	NM_024690		9083708	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	35.71	18	10	SNP	0.825	G
MUC16	94025	genome.wustl.edu	37	19	9086902	9086902	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:9086902C>T	ENST00000397910.4	-	1	5116	c.4913G>A	c.(4912-4914)aGc>aAc	p.S1638N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1638	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						ACTACTACTGCTCCCTGTTGT	0.493																																																	0													202.0	195.0	198.0					19																	9086902		2032	4190	6222	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.4913G>A	19.37:g.9086902C>T	ENSP00000381008:p.Ser1638Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S1638N	ENST00000397910.4	37	c.4913	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	3.604	-0.080946	0.07141	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.33	0.251	0.15540	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	.	.	.	P	0.40282	0.711	B	0.32724	0.151	T	0.46119	-0.9214	8	0.87932	D	0	.	3.5139	0.07718	0.0:0.7293:0.0:0.2707	.	1638	B5ME49	.	N	1638	ENSP00000381008:S1638N	ENSP00000381008:S1638N	S	-	2	0	MUC16	8947902	0.000000	0.05858	0.001000	0.08648	0.144000	0.21451	-0.492000	0.06467	0.109000	0.17891	0.313000	0.20887	AGC	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	83	0	C	NM_024690		9086902	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.001	T
MUC6	4588	genome.wustl.edu	37	11	1025814	1025814	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:1025814G>A	ENST00000421673.2	-	22	2840	c.2790C>T	c.(2788-2790)atC>atT	p.I930I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	930	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCCAGGAAGATCTTGATGG	0.637																																																	0													40.0	44.0	43.0					11																	1025814		2076	4174	6250	SO:0001819	synonymous_variant	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2790C>T	11.37:g.1025814G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.I930	ENST00000421673.2	37	c.2790	CCDS44513.1	11																																																																																			MUC6	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000184956		0.637	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0.00	50	0	G	XM_290540		1025814	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	silent	34.09	29	15	SNP	0.057	A
MYLK2	85366	genome.wustl.edu	37	20	30409338	30409338	+	Silent	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:30409338A>G	ENST00000375994.2	+	3	843	c.570A>G	c.(568-570)ccA>ccG	p.P190P	MYLK2_ENST00000375985.4_Silent_p.P190P			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	190					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATCCCAGGCCAGCCAAGGCAG	0.592																																																	0													55.0	56.0	56.0					20																	30409338		2203	4300	6503	SO:0001819	synonymous_variant	0			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.570A>G	20.37:g.30409338A>G			Q569L1|Q96I84	Silent	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.P190	ENST00000375994.2	37	c.570	CCDS13191.1	20																																																																																			MYLK2	-	NULL	ENSG00000101306		0.592	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	HGNC	protein_coding	OTTHUMT00000078583.2		0.00	34	0	A	NM_033118		30409338	+1			no_errors	ENST00000375985	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.954	G
MYOF	26509	genome.wustl.edu	37	10	95099977	95099977	+	Intron	SNP	G	G	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:95099977G>C	ENST00000359263.4	-	39	4326				MYOF_ENST00000371501.4_Intron|MYOF_ENST00000358334.5_Intron|MYOF_ENST00000371502.4_Intron	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin						blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGGTCACATAGATATGGAGAC	0.363																																																	0													74.0	65.0	68.0					10																	95099977		692	1591	2283	SO:0001627	intron_variant	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4327-56C>G	10.37:g.95099977G>C			B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	RNA	SNP	-	NULL	ENST00000359263.4	37	NULL	CCDS41551.1	10																																																																																			MYOF	-	-	ENSG00000138119		0.363	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	-	0.00	76	0	G	NM_013451		95099977	-1	tier1	-	no_errors	ENST00000475358	ensembl	human	known	74_37	rna	39.13	28	18	SNP	0.004	C
NAGK	55577	genome.wustl.edu	37	2	71302688	71302688	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:71302688C>T	ENST00000244204.6	+	7	645	c.583C>T	c.(583-585)Cca>Tca	p.P195S	NAGK_ENST00000443872.2_Missense_Mutation_p.P47S|NAGK_ENST00000455662.2_Missense_Mutation_p.P241S|NAGK_ENST00000443938.2_Missense_Mutation_p.P195S|NAGK_ENST00000418807.3_Missense_Mutation_p.P144S			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	195					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CTCTCAGGTGCCAGATCGGCT	0.493																																																	0													85.0	80.0	82.0					2																	71302688		2203	4300	6503	SO:0001583	missense	0			AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.583C>T	2.37:g.71302688C>T	ENSP00000244204:p.Pro195Ser		B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	pfam_ATPase_BadF	p.P144S	ENST00000244204.6	37	c.430		2	.	.	.	.	.	.	.	.	.	.	C	7.362	0.624950	0.14257	.	.	ENSG00000124357	ENST00000244204;ENST00000455662;ENST00000531934;ENST00000418807;ENST00000529236	T;T;T	0.41400	1.58;1.55;1.0	5.35	3.42	0.39159	ATPase, BadF/BadG/BcrA/BcrD type (1);	0.066216	0.64402	D	0.000006	T	0.06917	0.0176	N	0.00092	-2.175	0.33988	D	0.648736	B	0.06786	0.001	B	0.04013	0.001	T	0.38045	-0.9679	10	0.07813	T	0.8	-10.9501	3.9615	0.09413	0.204:0.6226:0.0:0.1734	.	195	Q9UJ70	NAGK_HUMAN	S	195;241;47;144;89	ENSP00000244204:P195S;ENSP00000389087:P241S;ENSP00000396070:P144S	ENSP00000244204:P195S	P	+	1	0	NAGK	71156196	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.116000	0.31221	2.668000	0.90789	0.655000	0.94253	CCA	NAGK	-	pfam_ATPase_BadF	ENSG00000124357		0.493	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	NAGK	HGNC	protein_coding	OTTHUMT00000471889.1	-	0.00	74	0	C			71302688	+1	tier1	-	no_errors	ENST00000418807	ensembl	human	putative	74_37	missense	7.02	52	4	SNP	1.000	T
NARS	4677	genome.wustl.edu	37	18	55283232	55283232	+	Intron	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:55283232C>T	ENST00000256854.5	-	3	549				NARS_ENST00000423481.2_Intron	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase						asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	AGAGAAAAGACAGTTCTTGAA	0.378																																																	0													70.0	66.0	67.0					18																	55283232		2203	4299	6502	SO:0001627	intron_variant	0			D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.94-25G>A	18.37:g.55283232C>T			B4DG16|Q53GU6	Missense_Mutation	SNP	NULL	p.C38Y	ENST00000256854.5	37	c.113	CCDS32837.1	18																																																																																			NARS	-	NULL	ENSG00000134440		0.378	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARS	HGNC	protein_coding	OTTHUMT00000449872.2	-	0.00	26	0	C	NM_004539		55283232	-1	tier1	-	no_errors	ENST00000590123	ensembl	human	known	74_37	missense	27.27	8	3	SNP	0.000	T
NBPF9	400818	genome.wustl.edu	37	1	144826712	144826712	+	Intron	SNP	G	G	T	rs200477780|rs370870016		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:144826712G>T	ENST00000468645.1	+	13	1601				NBPF9_ENST00000440491.2_Intron|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9							cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						gtgtgtgtgtgtgtgtgtgtg	0.453																																																	0																																										SO:0001627	intron_variant	0				CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000468645.1:c.1602-221G>T	1.37:g.144826712G>T				RNA	SNP	-	NULL	ENST00000468645.1	37	NULL		1																																																																																			NBPF9	-	-	ENSG00000168614		0.453	NBPF9-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	NBPF9	HGNC	protein_coding	OTTHUMT00000038846.1	-	0.00	16	0	G	NM_001037675		144826712	+1	tier1	rs200477780	no_errors	ENST00000488888	ensembl	human	known	74_37	rna	30.77	9	4	SNP	0.002	T
NCAPD3	23310	genome.wustl.edu	37	11	134073622	134073622	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:134073622C>T	ENST00000534548.2	-	11	1459	c.1395G>A	c.(1393-1395)ctG>ctA	p.L465L		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	465					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CAAAGCTGGACAGTGCCTTGC	0.488																																																	0													66.0	64.0	65.0					11																	134073622		2201	4297	6498	SO:0001819	synonymous_variant	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1395G>A	11.37:g.134073622C>T			A6NFS2|Q4KMQ9	Silent	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.L465	ENST00000534548.2	37	c.1395	CCDS31723.1	11																																																																																			NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3	ENSG00000151503		0.488	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2		0.00	55	0	C	NM_015261		134073622	-1			no_errors	ENST00000534548	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.110	T
NCL	4691	genome.wustl.edu	37	2	232319942	232319944	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:232319942_232319944delCCT	ENST00000322723.4	-	14	2331_2333	c.2091_2093delAGG	c.(2089-2094)ggaggt>ggt	p.697_698GG>G	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	697	Arg/Gly/Phe-rich.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTTGTGGTCACCTCCTCCTCCTC	0.498																																																	0																																										SO:0001651	inframe_deletion	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.2091_2093delAGG	2.37:g.232319951_232319953delCCT	ENSP00000318195:p.Gly698del		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	In_Frame_Del	DEL	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.G698in_frame_del	ENST00000322723.4	37	c.2093_2091	CCDS33397.1	2																																																																																			NCL	-	NULL	ENSG00000115053		0.498	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1		0.00	49	0	CCT	NM_005381		232319944	-1	tier1		no_errors	ENST00000322723	ensembl	human	known	74_37	in_frame_del	8.82	31	3	DEL	1.000:0.999:0.061	-
NDE1	54820	genome.wustl.edu	37	16	15771674	15771674	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:15771674A>G	ENST00000396353.2	+	5	1080	c.254A>G	c.(253-255)cAg>cGg	p.Q85R	NDE1_ENST00000396355.1_Missense_Mutation_p.Q85R|NDE1_ENST00000342673.5_Missense_Mutation_p.Q85R|NDE1_ENST00000396354.1_Missense_Mutation_p.Q85R			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	85	Self-association. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TTTGAAGTGCAGCACTCTGAA	0.493																																																	0													99.0	87.0	91.0					16																	15771674		2197	4300	6497	SO:0001583	missense	0			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.254A>G	16.37:g.15771674A>G	ENSP00000379641:p.Gln85Arg		Q49AQ2	Missense_Mutation	SNP	pfam_NUDE_C	p.Q85R	ENST00000396353.2	37	c.254		16	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301817	0.81136	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.12	5.12	0.69794	.	0.055385	0.85682	D	0.000000	T	0.76976	0.4063	M	0.73962	2.25	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.988	T	0.75065	-0.3449	9	0.25106	T	0.35	-26.1894	14.4205	0.67180	1.0:0.0:0.0:0.0	.	85;85	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	R	85	.	ENSP00000345892:Q85R	Q	+	2	0	NDE1	15679175	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.403000	0.79983	2.053000	0.61076	0.533000	0.62120	CAG	NDE1	-	NULL	ENSG00000072864		0.493	NDE1-202	KNOWN	basic|appris_principal	protein_coding	NDE1	HGNC	protein_coding		-	0.00	33	0	A	NM_017668		15771674	+1	tier1	-	no_errors	ENST00000396353	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	G
NDUFAF4	29078	genome.wustl.edu	37	6	97338905	97338905	+	3'UTR	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:97338905T>C	ENST00000316149.7	-	0	682				NDUFAF4_ENST00000489477.1_5'Flank	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						ATTAACATAATTTATTACGCA	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF161474	CCDS5037.1	6q16.3	2012-10-12	2012-05-08	2009-03-18	ENSG00000123545	ENSG00000123545		"""Mitochondrial respiratory chain complex assembly factors"""	21034	protein-coding gene	gene with protein product		611776	"""chromosome 6 open reading frame 66"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4"""	C6orf66		11042152, 18179882	Standard	NM_014165		Approved	HSPC125, bA22L21.1, My013, HRPAP20	uc003pow.3	Q9P032	OTTHUMG00000015246	ENST00000316149.7:c.*75A>G	6.37:g.97338905T>C			B2R4J5	RNA	SNP	-	NULL	ENST00000316149.7	37	NULL	CCDS5037.1	6																																																																																			NDUFAF4	-	-	ENSG00000123545		0.313	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF4	HGNC	protein_coding	OTTHUMT00000041567.1	-	0.00	39	0	T	NM_014165		97338905	-1	tier1	-	no_errors	ENST00000478382	ensembl	human	known	74_37	rna	41.67	14	10	SNP	0.992	C
NELL2	4753	genome.wustl.edu	37	12	44915837	44915837	+	Silent	SNP	A	A	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:44915837A>C	ENST00000429094.2	-	18	2625	c.2121T>G	c.(2119-2121)acT>acG	p.T707T	NELL2_ENST00000549027.1_Silent_p.T706T|NELL2_ENST00000452445.2_Silent_p.T707T|NELL2_ENST00000437801.2_Silent_p.T757T|NELL2_ENST00000395487.2_Silent_p.T706T|NELL2_ENST00000551601.1_Silent_p.T659T|NELL2_ENST00000333837.4_Silent_p.T730T	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	707	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGTTATACAAAGTTTCCCCAT	0.453																																																	0													136.0	123.0	127.0					12																	44915837		2203	4300	6503	SO:0001819	synonymous_variant	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2121T>G	12.37:g.44915837A>C			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	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.T757	ENST00000429094.2	37	c.2271	CCDS8746.1	12																																																																																			NELL2	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000184613		0.453	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0.00	54	0	A	NM_006159		44915837	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	silent	18.42	31	7	SNP	0.001	C
NFIL3	4783	genome.wustl.edu	37	9	94171973	94171973	+	Silent	SNP	C	C	T	rs141662610		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:94171973C>T	ENST00000297689.3	-	2	1438	c.1044G>A	c.(1042-1044)acG>acA	p.T348T		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	348	Necessary for transcriptional repression and sufficient for interaction with DR1.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AAAGTTTTTGCGTGGCCTCAA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		21053	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(152;732 1832 10053 26981 51762)												0								C		1,4405	2.1+/-5.4	0,1,2202	128.0	123.0	125.0		1044	-7.3	0.0	9	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	NFIL3	NM_005384.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		348/463	94171973	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.1044G>A	9.37:g.94171973C>T			B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Silent	SNP	pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP	p.T348	ENST00000297689.3	37	c.1044	CCDS6690.1	9																																																																																			NFIL3	-	pfam_Vert_IL3-reg_TF,pirsf_TF_bZIP_E4BP4	ENSG00000165030		0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIL3	HGNC	protein_coding	OTTHUMT00000053038.2		0.00	35	0	C	NM_005384		94171973	-1			no_errors	ENST00000297689	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.000	T
NOXRED1	122945	genome.wustl.edu	37	14	77873849	77873849	+	Silent	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:77873849G>T	ENST00000380835.2	-	3	655	c.489C>A	c.(487-489)gcC>gcA	p.A163A	NOXRED1_ENST00000298358.3_Silent_p.A163A	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	163					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						ACACAATGCTGGCCTTCTCAA	0.498																																																	0													141.0	130.0	134.0					14																	77873849		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.489C>A	14.37:g.77873849G>T			B3KQ47|O95435	Silent	SNP	NULL	p.A163	ENST00000380835.2	37	c.489	CCDS45142.1	14																																																																																			NOXRED1	-	NULL	ENSG00000165555		0.498	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOXRED1	HGNC	protein_coding	OTTHUMT00000414103.1	-	0.00	77	0	G	NM_138791		77873849	-1	tier1	-	no_errors	ENST00000380835	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.464	T
NUB1	51667	genome.wustl.edu	37	7	151074157	151074157	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:151074157delA	ENST00000355851.4	+	15	1771	c.1694delA	c.(1693-1695)gaafs	p.E565fs	NUB1_ENST00000568733.1_Frame_Shift_Del_p.E589fs|WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000413040.2_Frame_Shift_Del_p.E575fs|NUB1_ENST00000566856.1_Frame_Shift_Del_p.E551fs	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	565	NEDD8-binding 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCAACAGACGAAGACATGGAG	0.443																																																	0													58.0	57.0	58.0					7																	151074157		1903	4121	6024	SO:0001589	frameshift_variant	0			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1694delA	7.37:g.151074157delA	ENSP00000348110:p.Glu565fs		O95422|Q75MR9|Q8IX22|Q9BXR2	Frame_Shift_Del	DEL	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.D590fs	ENST00000355851.4	37	c.1766		7																																																																																			NUB1	-	NULL	ENSG00000013374		0.443	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding			0.00	52	0	A	NM_016118		151074157	+1	tier1		no_errors	ENST00000568733	ensembl	human	known	74_37	frame_shift_del	12.50	14	2	DEL	1.000	-
NUP62	23636	genome.wustl.edu	37	19	50412739	50412739	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:50412739G>T	ENST00000596217.1	-	2	2213	c.326C>A	c.(325-327)gCa>gAa	p.A109E	NUP62_ENST00000597723.1_Missense_Mutation_p.A109E|NUP62_ENST00000597029.1_Missense_Mutation_p.A109E|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Missense_Mutation_p.A109E|NUP62_ENST00000422090.2_Missense_Mutation_p.A109E|IL4I1_ENST00000341114.3_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.A109E			P37198	NUP62_HUMAN	nucleoporin 62kDa	109	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCTGGGGTTTGCCATGGCTGG	0.572																																																	0													74.0	78.0	76.0					19																	50412739		2203	4300	6503	SO:0001583	missense	0			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.326C>A	19.37:g.50412739G>T	ENSP00000471191:p.Ala109Glu		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.A109E	ENST00000596217.1	37	c.326	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	G	9.914	1.210300	0.22289	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.38560	1.13;1.13;1.13	5.2	-0.31	0.12765	Nucleoporin, NSP1-like, C-terminal (1);	0.342996	0.26096	U	0.026372	T	0.35740	0.0942	M	0.69823	2.125	0.09310	N	1	B;B	0.18610	0.029;0.017	B;B	0.18561	0.022;0.01	T	0.35126	-0.9801	10	0.66056	D	0.02	-2.1986	5.0861	0.14682	0.2088:0.3161:0.4751:0.0	.	109;109	Q8WYU3;P37198	.;NUP62_HUMAN	E	109	ENSP00000305503:A109E;ENSP00000407331:A109E;ENSP00000387991:A109E	ENSP00000321866:A109E	A	-	2	0	NUP62	55104551	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.378000	0.20569	0.079000	0.16929	0.655000	0.94253	GCA	NUP62	-	NULL	ENSG00000213024		0.572	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	-	0.00	95	0	G	NM_153719		50412739	-1	tier1	-	no_errors	ENST00000352066	ensembl	human	known	74_37	missense	53.73	31	36	SNP	0.000	T
OCLN	100506658	genome.wustl.edu	37	5	68805284	68805284	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:68805284G>A	ENST00000355237.2	+	3	803	c.367G>A	c.(367-369)Ggt>Agt	p.G123S	OCLN_ENST00000396442.2_Missense_Mutation_p.G123S|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.G123S	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	123	Gly/Tyr-rich.|MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ctatggctatggttatggcta	0.507																																																	0													125.0	101.0	110.0					5																	68805284		2203	4300	6503	SO:0001583	missense	0			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.367G>A	5.37:g.68805284G>A	ENSP00000347379:p.Gly123Ser		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin	p.G123S	ENST00000355237.2	37	c.367	CCDS4006.1	5	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410513	0.42715	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	D;D;D	0.86366	-2.11;-2.11;-2.11	5.96	5.96	0.96718	Marvel (1);MARVEL-like domain (1);	0.347474	0.36101	N	0.002794	D	0.93419	0.7901	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90450	0.4438	10	0.19590	T	0.45	-24.1818	19.1934	0.93677	0.0:0.0:1.0:0.0	.	123	Q16625	OCLN_HUMAN	S	123	ENSP00000347379:G123S;ENSP00000379719:G123S;ENSP00000370143:G123S	ENSP00000347379:G123S	G	+	1	0	OCLN	68841040	0.751000	0.28327	0.991000	0.47740	0.361000	0.29550	2.362000	0.44169	2.832000	0.97577	0.655000	0.94253	GGT	OCLN	-	pfam_Marvel,pirsf_Occludin	ENSG00000197822		0.507	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	HGNC	protein_coding	OTTHUMT00000216794.1	-	0.00	90	0	G	NM_002538		68805284	+1	tier1	-	no_errors	ENST00000355237	ensembl	human	known	74_37	missense	42.25	41	30	SNP	1.000	A
OGFRL1	79627	genome.wustl.edu	37	6	72011406	72011406	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:72011406A>C	ENST00000370435.4	+	7	1144	c.1010A>C	c.(1009-1011)aAc>aCc	p.N337T	RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000423255.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	337						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TCCAGTCATAACAGTCAAACT	0.453																																																	0													45.0	50.0	48.0					6																	72011406		2203	4300	6503	SO:0001583	missense	0				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.1010A>C	6.37:g.72011406A>C	ENSP00000359464:p.Asn337Thr		Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	pfam_OGF_rcpt	p.N337T	ENST00000370435.4	37	c.1010	CCDS34482.1	6	.	.	.	.	.	.	.	.	.	.	A	6.039	0.375539	0.11409	.	.	ENSG00000119900	ENST00000370435	T	0.44482	0.92	6.04	-4.37	0.03633	.	0.660669	0.15468	N	0.260745	T	0.06690	0.0171	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.33343	-0.9872	10	0.20519	T	0.43	-4.4748	5.7963	0.18389	0.3614:0.0954:0.4445:0.0987	.	337	Q5TC84	OGRL1_HUMAN	T	337	ENSP00000359464:N337T	ENSP00000359464:N337T	N	+	2	0	OGFRL1	72068127	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.054000	0.14205	-1.080000	0.03109	-0.468000	0.05107	AAC	OGFRL1	-	NULL	ENSG00000119900		0.453	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFRL1	HGNC	protein_coding	OTTHUMT00000041153.2	-	0.00	19	0	A	NM_024576		72011406	+1	tier1	-	no_errors	ENST00000370435	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.000	C
OR10X1	128367	genome.wustl.edu	37	1	158549447	158549447	+	Silent	SNP	T	T	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:158549447T>G	ENST00000368150.1	-	1	242	c.243A>C	c.(241-243)gcA>gcC	p.A81A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	81			A -> S (in dbSNP:rs950164).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAAGGAGAGTGCACTAAGGA	0.498																																																	0													121.0	113.0	116.0					1																	158549447		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.243A>C	1.37:g.158549447T>G			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A81	ENST00000368150.1	37	c.243	CCDS30900.1	1																																																																																			OR10X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186400		0.498	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	-	0.00	47	0	T	NM_001004477		158549447	-1	tier1	-	no_errors	ENST00000368150	ensembl	human	known	74_37	silent	42.62	35	26	SNP	0.988	G
OR13C2	392376	genome.wustl.edu	37	9	107367631	107367631	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:107367631G>T	ENST00000542196.1	-	1	320	c.278C>A	c.(277-279)tCc>tAc	p.S93Y		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCAGAAAGGGAAATGGTCTT	0.517																																																	0													89.0	87.0	88.0					9																	107367631		2202	4299	6501	SO:0001583	missense	0				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.278C>A	9.37:g.107367631G>T	ENSP00000438815:p.Ser93Tyr		B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S93Y	ENST00000542196.1	37	c.278	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910903	0.52439	.	.	ENSG00000257019	ENST00000542196	T	0.00745	5.75	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35838	U	0.002946	T	0.06096	0.0158	H	0.95679	3.705	0.37974	D	0.933371	D	0.65815	0.995	D	0.63381	0.914	T	0.03795	-1.1003	10	0.87932	D	0	.	12.6245	0.56622	0.0:0.0:1.0:0.0	.	93	Q8NGS9	O13C2_HUMAN	Y	93	ENSP00000438815:S93Y	ENSP00000438815:S93Y	S	-	2	0	OR13C2	106407452	1.000000	0.71417	0.325000	0.25375	0.548000	0.35241	5.064000	0.64338	1.807000	0.52817	0.462000	0.41574	TCC	OR13C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000257019		0.517	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2		0.00	53	0	G	NM_001004481		107367631	-1			no_errors	ENST00000542196	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.946	T
OR4N2	390429	genome.wustl.edu	37	14	20296200	20296200	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:20296200T>C	ENST00000315947.1	+	1	593	c.593T>C	c.(592-594)cTg>cCg	p.L198P	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGAGCTTCTGATGGTCTTC	0.527																																																	0													146.0	145.0	145.0					14																	20296200		2203	4300	6503	SO:0001583	missense	0				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.593T>C	14.37:g.20296200T>C	ENSP00000319601:p.Leu198Pro		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L198P	ENST00000315947.1	37	c.593	CCDS32022.1	14	.	.	.	.	.	.	.	.	.	.	.	14.11	2.438010	0.43326	.	.	ENSG00000176294	ENST00000315947	T	0.39787	1.06	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	N	0.001405	T	0.71143	0.3305	M	0.93638	3.44	0.09310	N	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.67719	-0.5598	10	0.87932	D	0	-8.2003	12.081	0.53671	0.0:0.0:0.0:1.0	.	198	Q8NGD1	OR4N2_HUMAN	P	198	ENSP00000319601:L198P	ENSP00000319601:L198P	L	+	2	0	OR4N2	19366040	0.006000	0.16342	0.622000	0.29159	0.868000	0.49771	1.680000	0.37607	2.008000	0.58898	0.477000	0.44152	CTG	OR4N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176294		0.527	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	HGNC	protein_coding	OTTHUMT00000409821.2	-	0.00	123	0	T			20296200	+1	tier1	-	no_errors	ENST00000315947	ensembl	human	known	74_37	missense	6.90	81	6	SNP	0.003	C
OR4K1	79544	genome.wustl.edu	37	14	20404047	20404047	+	Silent	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:20404047T>C	ENST00000285600.4	+	1	281	c.222T>C	c.(220-222)tcT>tcC	p.S74S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	74						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCTGTCAGTCTAACTTTGCCA	0.383																																																	0													222.0	234.0	230.0					14																	20404047		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.222T>C	14.37:g.20404047T>C			B9EKV9|Q8NGD6|Q96R73	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S74	ENST00000285600.4	37	c.222	CCDS32025.1	14																																																																																			OR4K1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000155249		0.383	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	-	0.00	89	0	T			20404047	+1	tier1	-	no_errors	ENST00000285600	ensembl	human	known	74_37	silent	48.28	30	28	SNP	0.053	C
OR52A5	390054	genome.wustl.edu	37	11	5153614	5153614	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:5153614A>C	ENST00000307388.1	-	1	258	c.259T>G	c.(259-261)Ttc>Gtc	p.F87V		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	87					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGAAACCAGAAGATGCCTAAC	0.413																																																	0													62.0	59.0	60.0					11																	5153614		2201	4298	6499	SO:0001583	missense	0			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.259T>G	11.37:g.5153614A>C	ENSP00000303469:p.Phe87Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F87V	ENST00000307388.1	37	c.259	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649390	0.67358	.	.	ENSG00000171944	ENST00000307388	T	0.00940	5.52	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000158	T	0.07818	0.0196	M	0.91090	3.175	0.36866	D	0.888643	D	0.89917	1.0	D	0.91635	0.999	T	0.01884	-1.1254	10	0.87932	D	0	.	14.0725	0.64868	1.0:0.0:0.0:0.0	.	87	Q9H2C5	O52A5_HUMAN	V	87	ENSP00000303469:F87V	ENSP00000303469:F87V	F	-	1	0	OR52A5	5110190	0.852000	0.29690	1.000000	0.80357	0.892000	0.51952	3.745000	0.55119	2.186000	0.69663	0.533000	0.62120	TTC	OR52A5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171944		0.413	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	HGNC	protein_coding	OTTHUMT00000142823.1	-	0.00	38	0	A	NM_001005160		5153614	-1	tier1	-	no_errors	ENST00000307388	ensembl	human	known	74_37	missense	44.83	16	13	SNP	0.894	C
PAX6	5080	genome.wustl.edu	37	11	31824329	31824329	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:31824329G>A	ENST00000379132.3	-	4	344	c.64C>T	c.(64-66)Ccg>Tcg	p.P22S	PAX6_ENST00000241001.8_Missense_Mutation_p.P22S|PAX6_ENST00000379115.4_Missense_Mutation_p.P22S|PAX6_ENST00000379111.2_Missense_Mutation_p.P22S|PAX6_ENST00000419022.1_Missense_Mutation_p.P22S|PAX6_ENST00000379107.2_Missense_Mutation_p.P22S|PAX6_ENST00000379123.5_Missense_Mutation_p.P22S|PAX6_ENST00000533156.1_5'UTR|PAX6_ENST00000379129.2_Missense_Mutation_p.P22S			P26367	PAX6_HUMAN	paired box 6	22	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		Missing (in AN). {ECO:0000269|PubMed:12634864, ECO:0000269|PubMed:9281415}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GTGGAGTCCGGCAGTGGCCGC	0.612									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																																								0													26.0	29.0	28.0					11																	31824329		2202	4299	6501	SO:0001583	missense	0	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.64C>T	11.37:g.31824329G>A	ENSP00000368427:p.Pro22Ser		Q6N006|Q99413	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom	p.P22S	ENST00000379132.3	37	c.64	CCDS31451.1	11	.	.	.	.	.	.	.	.	.	.	g	25.7	4.663614	0.88251	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000379109;ENST00000455099;ENST00000524853;ENST00000423822;ENST00000438681	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45	4.48	4.48	0.54585	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.054294	0.85682	D	0.000000	D	0.99661	0.9874	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97515	1.0069	10	0.87932	D	0	.	17.3631	0.87356	0.0:0.0:1.0:0.0	.	22;22	F1T0F8;P26367	.;PAX6_HUMAN	S	22	ENSP00000404100:P22S;ENSP00000368427:P22S;ENSP00000368424:P22S;ENSP00000368401:P22S;ENSP00000241001:P22S;ENSP00000368410:P22S;ENSP00000368406:P22S;ENSP00000368418:P22S;ENSP00000368403:P22S;ENSP00000397384:P22S;ENSP00000431585:P22S;ENSP00000388132:P22S;ENSP00000404356:P22S	ENSP00000241001:P22S	P	-	1	0	PAX6	31780905	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.402000	0.97298	2.322000	0.78497	0.450000	0.29827	CCG	PAX6	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom	ENSG00000007372		0.612	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX6	HGNC	protein_coding	OTTHUMT00000099293.4		0.00	80	0	G	NM_001604		31824329	-1			no_errors	ENST00000379107	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	A
OR8H1	219469	genome.wustl.edu	37	11	56058355	56058355	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:56058355A>C	ENST00000313022.2	-	1	211	c.184T>G	c.(184-186)Ttc>Gtc	p.F62V		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TGAGTAAGGAAAAAATACATG	0.398																																																	0													250.0	239.0	243.0					11																	56058355		2201	4296	6497	SO:0001583	missense	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.184T>G	11.37:g.56058355A>C	ENSP00000323595:p.Phe62Val		B2RNI7|Q6IFC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F62V	ENST00000313022.2	37	c.184	CCDS31526.1	11	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675645	0.29783	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.14391	2.51	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.46367	0.1389	H	0.95884	3.735	0.28889	N	0.893932	D	0.89917	1.0	D	0.97110	1.0	T	0.53690	-0.8403	10	0.87932	D	0	.	8.4823	0.33049	0.9012:0.0:0.0988:0.0	.	62	Q8NGG4	OR8H1_HUMAN	V	62;58	ENSP00000323595:F62V	ENSP00000323595:F62V	F	-	1	0	OR8H1	55814931	0.825000	0.29262	0.995000	0.50966	0.030000	0.12068	1.650000	0.37292	1.636000	0.50526	0.240000	0.17902	TTC	OR8H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181693		0.398	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	-	0.00	96	0	A	NM_001005199		56058355	-1	tier1	-	no_errors	ENST00000313022	ensembl	human	known	74_37	missense	26.23	45	16	SNP	0.988	C
OR5AR1	219493	genome.wustl.edu	37	11	56431942	56431942	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:56431942A>G	ENST00000302969.2	+	1	805	c.781A>G	c.(781-783)Agg>Ggg	p.R261G		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TATGTACCTGAGGCCAACATC	0.507																																																	0													119.0	106.0	110.0					11																	56431942		2201	4296	6497	SO:0001583	missense	0			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.781A>G	11.37:g.56431942A>G	ENSP00000302639:p.Arg261Gly		Q6IF61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R261G	ENST00000302969.2	37	c.781	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	A	17.37	3.372860	0.61624	.	.	ENSG00000172459	ENST00000302969	T	0.35973	1.28	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.52354	0.1729	M	0.79011	2.435	0.26675	N	0.971649	P	0.51791	0.948	P	0.59761	0.863	T	0.54523	-0.8281	10	0.87932	D	0	.	6.2546	0.20867	0.7554:0.1621:0.0825:0.0	.	261	Q8NGP9	O5AR1_HUMAN	G	261	ENSP00000302639:R261G	ENSP00000302639:R261G	R	+	1	2	OR5AR1	56188518	0.330000	0.24705	1.000000	0.80357	0.993000	0.82548	0.082000	0.14847	2.128000	0.65567	0.467000	0.42956	AGG	OR5AR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172459		0.507	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	HGNC	protein_coding	OTTHUMT00000334434.1	-	0.00	49	0	A	NM_001004730		56431942	+1	tier1	-	no_errors	ENST00000302969	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.998	G
PCDHA8	56140	genome.wustl.edu	37	5	140221088	140221088	+	Missense_Mutation	SNP	C	C	T	rs376513525	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:140221088C>T	ENST00000531613.1	+	1	182	c.182C>T	c.(181-183)cCg>cTg	p.P61L	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P61L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCGCGCCTGTTC	0.637																																																	0													38.0	50.0	46.0					5																	140221088		2203	4296	6499	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.182C>T	5.37:g.140221088C>T	ENSP00000434655:p.Pro61Leu		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P61L	ENST00000531613.1	37	c.182	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880274	0.72294	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.26660	1.72;1.72	3.95	3.95	0.45737	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.226637	0.22037	U	0.065506	T	0.30759	0.0775	M	0.72118	2.19	0.19775	N	0.999956	P;D	0.59357	0.938;0.985	B;B	0.40506	0.239;0.331	T	0.39583	-0.9607	10	0.87932	D	0	.	16.3451	0.83120	0.0:1.0:0.0:0.0	.	61;61	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	L	61	ENSP00000434655:P61L;ENSP00000367363:P61L	ENSP00000367363:P61L	P	+	2	0	PCDHA8	140201272	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	-0.108000	0.10857	1.905000	0.55150	0.557000	0.71058	CCG	PCDHA8	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204962		0.637	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	-	0.00	126	0	C	NM_018911		140221088	+1	tier1	-	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	48.98	50	48	SNP	0.295	T
PCDHA12	56137	genome.wustl.edu	37	5	140257282	140257282	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:140257282C>G	ENST00000398631.2	+	1	2225	c.2225C>G	c.(2224-2226)tCc>tGc	p.S742C	PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	742	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGTGCTCCAGCGCCGTG	0.682																																					Pancreas(113;759 1672 13322 24104 50104)												0													30.0	30.0	30.0					5																	140257282		2203	4300	6503	SO:0001583	missense	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2225C>G	5.37:g.140257282C>G	ENSP00000381628:p.Ser742Cys		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S742C	ENST00000398631.2	37	c.2225	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621284	0.28889	.	.	ENSG00000251664	ENST00000398631	T	0.18960	2.18	4.88	3.08	0.35506	.	.	.	.	.	T	0.40886	0.1135	H	0.94771	3.58	0.23406	N	0.997741	B;B	0.33583	0.302;0.418	B;B	0.39068	0.289;0.198	T	0.35500	-0.9786	9	0.52906	T	0.07	.	11.0964	0.48147	0.0:0.8484:0.0:0.1516	.	742;742	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	C	742	ENSP00000381628:S742C	ENSP00000381628:S742C	S	+	2	0	PCDHA12	140237466	0.279000	0.24239	0.984000	0.44739	0.110000	0.19582	-0.022000	0.12480	0.455000	0.26910	0.655000	0.94253	TCC	PCDHA12	-	NULL	ENSG00000251664		0.682	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0.00	72	0	C	NM_018903		140257282	+1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	missense	42.86	32	24	SNP	0.999	G
PCDHGB2	56103	genome.wustl.edu	37	5	140741034	140741034	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:140741034C>T	ENST00000522605.1	+	1	1332	c.1332C>T	c.(1330-1332)gaC>gaT	p.D444D	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_5'Flank	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTCCGACGTCAACGATA	0.552																																																	0													105.0	109.0	108.0					5																	140741034		2069	4208	6277	SO:0001819	synonymous_variant	0			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1332C>T	5.37:g.140741034C>T			Q3MIJ3|Q9UN65	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D444	ENST00000522605.1	37	c.1332	CCDS54924.1	5																																																																																			PCDHGB2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253910		0.552	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	-	0.00	41	0	C	NM_018923		140741034	+1	tier1	-	no_errors	ENST00000522605	ensembl	human	known	74_37	silent	21.95	32	9	SNP	0.760	T
PCSK7	9159	genome.wustl.edu	37	11	117100474	117100474	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:117100474G>A	ENST00000320934.3	-	3	717	c.87C>T	c.(85-87)ttC>ttT	p.F29F	RNF214_ENST00000531287.1_5'Flank|RNF214_ENST00000531452.1_5'Flank	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	29					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GAACCAGTAAGAAGAGCCCGG	0.652			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													18.0	21.0	20.0					11																	117100474		2196	4295	6491	SO:0001819	synonymous_variant	0			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.87C>T	11.37:g.117100474G>A			B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.F29	ENST00000320934.3	37	c.87	CCDS8382.1	11																																																																																			PCSK7	-	NULL	ENSG00000160613		0.652	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	-	0.00	38	0	G	NM_004716		117100474	-1	tier1	-	no_errors	ENST00000320934	ensembl	human	known	74_37	silent	37.21	27	16	SNP	0.813	A
PDGFRA	5156	genome.wustl.edu	37	4	55139789	55139789	+	Missense_Mutation	SNP	G	G	A	rs149031291	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:55139789G>A	ENST00000257290.5	+	10	1781	c.1450G>A	c.(1450-1452)Gtg>Atg	p.V484M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	484	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CAGGAGTACCGTGGAGGGCCG	0.507			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0								G	MET/VAL	0,4406		0,0,2203	93.0	90.0	91.0		1450	2.8	0.7	4	dbSNP_134	91	3,8597	3.0+/-9.4	0,3,4297	no	missense	PDGFRA	NM_006206.4	21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	484/1090	55139789	3,13003	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1450G>A	4.37:g.55139789G>A	ENSP00000257290:p.Val484Met		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V484M	ENST00000257290.5	37	c.1450	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	G	7.914	0.737211	0.15574	0.0	3.49E-4	ENSG00000134853	ENST00000257290	T	0.78246	-1.16	5.48	2.81	0.32909	Immunoglobulin-like fold (1);	0.000000	0.29522	U	0.011906	T	0.64316	0.2587	N	0.16833	0.445	0.80722	D	1	D;P	0.53151	0.958;0.532	P;B	0.45794	0.493;0.032	T	0.65187	-0.6229	10	0.62326	D	0.03	.	8.7508	0.34613	0.287:0.0:0.713:0.0	.	484;484	P16234-3;P16234	.;PGFRA_HUMAN	M	484	ENSP00000257290:V484M	ENSP00000257290:V484M	V	+	1	0	PDGFRA	54834546	0.998000	0.40836	0.687000	0.30102	0.013000	0.08279	3.120000	0.50430	0.792000	0.33850	0.650000	0.86243	GTG	PDGFRA	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000134853		0.507	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2	-	0.00	28	0	G	NM_006206		55139789	+1	tier1	rs149031291	no_errors	ENST00000257290	ensembl	human	known	74_37	missense	60.00	8	12	SNP	0.998	A
PDLIM1	9124	genome.wustl.edu	37	10	96998406	96998406	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:96998406T>C	ENST00000329399.6	-	6	830	c.722A>G	c.(721-723)aAa>aGa	p.K241R	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	241					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GACAGGAGCTTTAACACTTCT	0.478																																																	0													97.0	86.0	90.0					10																	96998406		2203	4300	6503	SO:0001583	missense	0			U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.722A>G	10.37:g.96998406T>C	ENSP00000360305:p.Lys241Arg		B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.K241R	ENST00000329399.6	37	c.722	CCDS7441.1	10	.	.	.	.	.	.	.	.	.	.	T	12.02	1.812712	0.32053	.	.	ENSG00000107438	ENST00000329399	T	0.21361	2.01	5.23	5.23	0.72850	.	0.042455	0.85682	D	0.000000	T	0.12732	0.0309	N	0.21142	0.635	0.52501	D	0.999956	B	0.19200	0.034	B	0.16289	0.015	T	0.14839	-1.0458	10	0.17832	T	0.49	-14.6782	8.918	0.35594	0.0:0.0835:0.0:0.9165	.	241	O00151	PDLI1_HUMAN	R	241	ENSP00000360305:K241R	ENSP00000360305:K241R	K	-	2	0	PDLIM1	96988396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.463000	0.53050	1.978000	0.57642	0.454000	0.30748	AAA	PDLIM1	-	NULL	ENSG00000107438		0.478	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM1	HGNC	protein_coding	OTTHUMT00000049508.1	-	0.00	92	0	T			96998406	-1	tier1	-	no_errors	ENST00000329399	ensembl	human	known	74_37	missense	43.94	37	29	SNP	1.000	C
PI15	51050	genome.wustl.edu	37	8	75757681	75757681	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:75757681G>T	ENST00000260113.2	+	5	769	c.590G>T	c.(589-591)tGg>tTg	p.W197L	PI15_ENST00000523773.1_Missense_Mutation_p.W197L|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	197	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ATGAATGTTTGGGGATCTGTG	0.413																																																	0													166.0	146.0	153.0					8																	75757681		2203	4300	6503	SO:0001583	missense	0			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.590G>T	8.37:g.75757681G>T	ENSP00000260113:p.Trp197Leu		Q68CY1	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.W197L	ENST00000260113.2	37	c.590	CCDS6218.1	8	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458943	0.84317	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.08282	3.11;3.11	5.41	5.41	0.78517	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	M	0.66560	2.04	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.00106	-1.2055	10	0.44086	T	0.13	.	19.39	0.94576	0.0:0.0:1.0:0.0	.	197	O43692	PI15_HUMAN	L	197	ENSP00000260113:W197L;ENSP00000428567:W197L	ENSP00000260113:W197L	W	+	2	0	PI15	75920236	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	9.188000	0.94921	2.812000	0.96745	0.557000	0.71058	TGG	PI15	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000137558		0.413	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PI15	HGNC	protein_coding	OTTHUMT00000379115.1	-	0.00	63	0	G	NM_015886		75757681	+1	tier1	-	no_errors	ENST00000260113	ensembl	human	known	74_37	missense	49.06	27	26	SNP	1.000	T
PIEZO2	63895	genome.wustl.edu	37	18	10671605	10671605	+	Silent	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:10671605T>C	ENST00000503781.3	-	52	8177	c.8178A>G	c.(8176-8178)gaA>gaG	p.E2726E	PIEZO2_ENST00000580640.1_Silent_p.E2751E|PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000538948.1_Silent_p.E683E|PIEZO2_ENST00000302079.6_Silent_p.E2663E|PIEZO2_ENST00000285141.4_Silent_p.E518E	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2726					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										AGAGATCTTCTTCTAGCTCCA	0.373																																																	0													102.0	96.0	98.0					18																	10671605		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.8178A>G	18.37:g.10671605T>C			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	pfam_Piezo	p.E683	ENST00000503781.3	37	c.2049		18																																																																																			PIEZO2	-	pfam_Piezo	ENSG00000154864		0.373	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0.00	49	0	T	NM_022068		10671605	-1	tier1	-	no_errors	ENST00000538948	ensembl	human	known	74_37	silent	51.28	19	20	SNP	1.000	C
PIGT	51604	genome.wustl.edu	37	20	44047496	44047496	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:44047496G>T	ENST00000279036.6	+	3	450	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	PIGT_ENST00000543458.2_Intron|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000372689.5_Missense_Mutation_p.D124Y|PIGT_ENST00000535404.1_Missense_Mutation_p.W2C	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	124					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				ATCCAGTGTGGATAAATCTTG	0.512																																																	0													153.0	134.0	141.0					20																	44047496		2203	4300	6503	SO:0001583	missense	0				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.370G>T	20.37:g.44047496G>T	ENSP00000279036:p.Asp124Tyr		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	pfam_PIG-T	p.D124Y	ENST00000279036.6	37	c.370	CCDS13353.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.28|16.28	3.078717|3.078717	0.55753|0.55753	.|.	.|.	ENSG00000124155|ENSG00000124155	ENST00000372689;ENST00000279036|ENST00000535404	T;T|T	0.47869|0.45668	0.83;0.83|0.89	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.102974|.	0.64402|.	D|.	0.000004|.	T|T	0.63651|0.63651	0.2529|0.2529	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	D|D	0.55385|0.89917	0.971|1.0	P|D	0.57244|0.85130	0.816|0.997	T|T	0.66188|0.66188	-0.5986|-0.5986	10|9	0.40728|0.87932	T|D	0.16|0	-7.7919|-7.7919	12.4366|12.4366	0.55602|0.55602	0.0758:0.0:0.9242:0.0|0.0758:0.0:0.9242:0.0	.|.	124|64	Q969N2|Q969N2-2	PIGT_HUMAN|.	Y|C	124|2	ENSP00000361774:D124Y;ENSP00000279036:D124Y|ENSP00000440528:W2C	ENSP00000279036:D124Y|ENSP00000440528:W2C	D|W	+|+	1|3	0|0	PIGT|PIGT	43480910|43480910	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	6.459000|6.459000	0.73513|0.73513	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	GAT|TGG	PIGT	-	pfam_PIG-T	ENSG00000124155		0.512	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGT	HGNC	protein_coding	OTTHUMT00000079434.2	-	0.00	54	0	G	NM_015937		44047496	+1	tier1	-	no_errors	ENST00000279036	ensembl	human	known	74_37	missense	38.46	24	15	SNP	1.000	T
PIKFYVE	200576	genome.wustl.edu	37	2	209190824	209190824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:209190824G>T	ENST00000264380.4	+	20	3447	c.3289G>T	c.(3289-3291)Gaa>Taa	p.E1097*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1097					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGAATTCAAAGAAATGGAGAA	0.438																																																	0													59.0	65.0	63.0					2																	209190824		2203	4300	6503	SO:0001587	stop_gained	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3289G>T	2.37:g.209190824G>T	ENSP00000264380:p.Glu1097*		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Nonsense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.E1097*	ENST00000264380.4	37	c.3289	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.286709	0.98189	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.6597	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	1097;673;1041	.	ENSP00000264380:E1097X	E	+	1	0	PIKFYVE	208899069	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.756000	0.98918	2.941000	0.99782	0.655000	0.94253	GAA	PIKFYVE	-	NULL	ENSG00000115020		0.438	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2		0.00	35	0	G	NM_015040		209190824	+1			no_errors	ENST00000264380	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T
PLXNB2	23654	genome.wustl.edu	37	22	50726368	50726371	+	Frame_Shift_Del	DEL	TCCC	TCCC	-			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	TCCC	TCCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr22:50726368_50726371delTCCC	ENST00000449103.1	-	6	1616_1619	c.1476_1479delGGGA	c.(1474-1479)gagggafs	p.EG492fs	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.EG492fs			O15031	PLXB2_HUMAN	plexin B2	492					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		GCACTCACCGTCCCTCGACGACGC	0.706																																																	0																																										SO:0001589	frameshift_variant	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1476_1479delGGGA	22.37:g.50726368_50726371delTCCC	ENSP00000409171:p.Glu492fs		A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.E492fs	ENST00000449103.1	37	c.1479_1476	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000196576		0.706	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0.00	31	0	TCCC	NM_012401		50726371	-1	tier1		no_errors	ENST00000359337	ensembl	human	known	74_37	frame_shift_del	21.05	15	4	DEL	0.611:1.000:1.000:1.000	-
POLD3	10714	genome.wustl.edu	37	11	74315814	74315814	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:74315814G>A	ENST00000263681.2	+	3	323	c.194G>A	c.(193-195)gGc>gAc	p.G65D	POLD3_ENST00000527458.1_Missense_Mutation_p.G26D|POLD3_ENST00000532497.1_Intron	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	65					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					TTGGTGTCTGGCAGTCTCATT	0.398																																																	0													207.0	177.0	187.0					11																	74315814		2200	4293	6493	SO:0001583	missense	0			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.194G>A	11.37:g.74315814G>A	ENSP00000263681:p.Gly65Asp		B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	pfam_DNA_polymerase_subunit_Cdc27	p.G65D	ENST00000263681.2	37	c.194	CCDS8233.1	11	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500093	0.85176	.	.	ENSG00000077514	ENST00000528481;ENST00000263681;ENST00000527458;ENST00000538052;ENST00000530511;ENST00000531615	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.81331	0.4800	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84668	0.0710	9	0.87932	D	0	-10.1184	13.4106	0.60940	0.0:0.0:1.0:0.0	.	65	Q15054	DPOD3_HUMAN	D	26;65;26;65;26;26	.	ENSP00000263681:G65D	G	+	2	0	POLD3	73993462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.367000	0.90113	2.537000	0.85549	0.467000	0.42956	GGC	POLD3	-	pfam_DNA_polymerase_subunit_Cdc27	ENSG00000077514		0.398	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD3	HGNC	protein_coding	OTTHUMT00000385376.1	-	0.00	76	0	G	NM_006591		74315814	+1	tier1	-	no_errors	ENST00000263681	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A
PPP1R21	129285	genome.wustl.edu	37	2	48742317	48742317	+	3'UTR	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:48742317G>A	ENST00000294952.8	+	0	2934				PPP1R21_ENST00000281394.4_3'UTR|PPP1R21_ENST00000476199.1_3'UTR	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21							membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TATAGTTGAAGGCATTCTCCA	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.*434G>A	2.37:g.48742317G>A			B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	RNA	SNP	-	NULL	ENST00000294952.8	37	NULL	CCDS46278.1	2																																																																																			PPP1R21	-	-	ENSG00000162869		0.343	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	-	0.00	20	0	G	NM_152994		48742317	+1	tier1	-	no_errors	ENST00000476199	ensembl	human	known	74_37	rna	66.67	3	6	SNP	0.972	A
PPP2R2D	55844	genome.wustl.edu	37	10	133761171	133761171	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:133761171A>G	ENST00000422256.2	+	6	760	c.275A>G	c.(274-276)cAa>cGa	p.Q92R	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	319					exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GTGGGACCTCAACATGGAGAG	0.498																																																	0													78.0	80.0	80.0					10																	133761171		2030	4203	6233	SO:0001583	missense	0			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.275A>G	10.37:g.133761171A>G	ENSP00000406501:p.Gln92Arg		A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.N289D	ENST00000422256.2	37	c.865		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.37|15.37	2.814095|2.814095	0.50527|0.50527	.|.	.|.	ENSG00000175470|ENSG00000175470	ENST00000455566|ENST00000422256	T|.	0.28069|.	1.63|.	2.98|2.98	1.83|1.83	0.25207|0.25207	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43322|0.43322	0.1242|0.1242	.|.	.|.	.|.	0.23192|0.23192	N|N	0.998146|0.998146	B|.	0.09022|.	0.002|.	B|.	0.16289|.	0.015|.	T|T	0.37337|0.37337	-0.9710|-0.9710	9|5	0.87932|0.87932	D|D	0|0	-8.5713|-8.5713	8.259|8.259	0.31773|0.31773	0.8982:0.0:0.1018:0.0|0.8982:0.0:0.1018:0.0	.|.	320|.	Q66LE6|.	2ABD_HUMAN|.	D|R	289|92	ENSP00000399970:N289D|.	ENSP00000399970:N289D|ENSP00000406501:Q92R	N|Q	+|+	1|2	0|0	PPP2R2D|PPP2R2D	133611161|133611161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.467000|6.467000	0.73547|0.73547	0.546000|0.546000	0.28920|0.28920	0.533000|0.533000	0.62120|0.62120	AAC|CAA	PPP2R2D	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55	ENSG00000175470		0.498	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	PPP2R2D	HGNC	protein_coding		-	0.00	75	0	A	NM_018461		133761171	+1	tier1	-	no_errors	ENST00000455566	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	G
PRKCQ	5588	genome.wustl.edu	37	10	6520982	6520982	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:6520982G>A	ENST00000263125.5	-	12	1424	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	PRKCQ_ENST00000539722.1_Missense_Mutation_p.T317M|PRKCQ_ENST00000397176.2_Missense_Mutation_p.T442M	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	442	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	AAACATGTGCGTCAGAAACGG	0.498																																					Ovarian(50;572 1126 10530 25349 30594)												0													229.0	192.0	205.0					10																	6520982		2203	4300	6503	SO:0001583	missense	0			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1325C>T	10.37:g.6520982G>A	ENSP00000263125:p.Thr442Met		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T442M	ENST00000263125.5	37	c.1325	CCDS7079.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.54|15.54	2.864771|2.864771	0.51482|0.51482	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000397178|ENST00000263125;ENST00000397176;ENST00000539722	.|T;T;T	.|0.65364	.|-0.15;-0.15;-0.15	4.76|4.76	3.86|3.86	0.44501|0.44501	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.047773	.|0.85682	.|D	.|0.000000	T|T	0.64757|0.64757	0.2627|0.2627	N|N	0.17248|0.17248	0.465|0.465	0.54753|0.54753	D|D	0.999985|0.999985	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.83275	.|0.996;0.994;0.996;0.985	T|T	0.69606|0.69606	-0.5100|-0.5100	5|10	.|0.87932	.|D	.|0	.|.	12.8711|12.8711	0.57965|0.57965	0.0804:0.0:0.9196:0.0|0.0804:0.0:0.9196:0.0	.|.	.|317;214;442;442	.|B4DF52;Q5JUN8;Q04759-2;Q04759	.|.;.;.;KPCT_HUMAN	C|M	215|442;442;317	.|ENSP00000263125:T442M;ENSP00000380361:T442M;ENSP00000441752:T317M	.|ENSP00000263125:T442M	R|T	-|-	1|2	0|0	PRKCQ|PRKCQ	6560988|6560988	1.000000|1.000000	0.71417|0.71417	0.467000|0.467000	0.27180|0.27180	0.311000|0.311000	0.27955|0.27955	9.671000|9.671000	0.98627|0.98627	1.134000|1.134000	0.42165|0.42165	-0.229000|-0.229000	0.12294|0.12294	CGC|ACG	PRKCQ	-	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,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom	ENSG00000065675		0.498	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	HGNC	protein_coding	OTTHUMT00000046665.1	-	0.00	46	0	G	NM_006257		6520982	-1	tier1	-	no_errors	ENST00000263125	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.996	A
PPP2R2D	55844	genome.wustl.edu	37	10	133769418	133769418	+	3'UTR	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:133769418C>T	ENST00000422256.2	+	0	1113							Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		AATGTCATTGCCGTGGCTGCC	0.507																																																	0													42.0	47.0	45.0					10																	133769418		2201	4299	6500	SO:0001624	3_prime_UTR_variant	0			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.*220C>T	10.37:g.133769418C>T			A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.A407V	ENST00000422256.2	37	c.1220		10	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303803	0.60305	.	.	ENSG00000175470	ENST00000455566	T	0.32023	1.47	3.9	3.9	0.45041	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.64381	-0.6421	9	0.72032	D	0.01	-20.0878	16.4735	0.84125	0.0:1.0:0.0:0.0	.	438	Q66LE6	2ABD_HUMAN	V	407	ENSP00000399970:A407V	ENSP00000399970:A407V	A	+	2	0	PPP2R2D	133619408	1.000000	0.71417	0.098000	0.21074	0.033000	0.12548	4.943000	0.63554	2.184000	0.69523	0.650000	0.86243	GCC	PPP2R2D	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	ENSG00000175470		0.507	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	PPP2R2D	HGNC	protein_coding		-	0.00	55	0	C	NM_018461		133769418	+1	tier1	-	no_errors	ENST00000455566	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.999	T
PROSER1	80209	genome.wustl.edu	37	13	39587469	39587469	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:39587469G>A	ENST00000352251.3	-	11	2753	c.1920C>T	c.(1918-1920)ggC>ggT	p.G640G	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Silent_p.G618G	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	640	Ser-rich.							p.G640G(1)									TATATGCACGGCCCAATGTCC	0.478																																																	1	Substitution - coding silent(1)	large_intestine(1)											144.0	140.0	141.0					13																	39587469		2203	4300	6503	SO:0001819	synonymous_variant	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.1920C>T	13.37:g.39587469G>A			A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	NULL	p.G640	ENST00000352251.3	37	c.1920	CCDS9368.2	13																																																																																			PROSER1	-	NULL	ENSG00000120685		0.478	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	-	0.00	38	0	G	NM_025138		39587469	-1	tier1	-	no_errors	ENST00000352251	ensembl	human	known	74_37	silent	64.29	10	18	SNP	0.978	A
PRRC2A	7916	genome.wustl.edu	37	6	31599781	31599781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:31599781G>T	ENST00000376033.2	+	16	3565	c.3331G>T	c.(3331-3333)Gag>Tag	p.E1111*	PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.E1111*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1111	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AACAGGCAGCGAGACCCATGA	0.647																																																	0													41.0	55.0	50.0					6																	31599781		1507	2708	4215	SO:0001587	stop_gained	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3331G>T	6.37:g.31599781G>T	ENSP00000365201:p.Glu1111*		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Nonsense_Mutation	SNP	pfam_BAT2_N	p.E1111*	ENST00000376033.2	37	c.3331	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	44	10.774661	0.99465	.	.	ENSG00000204469	ENST00000376007;ENST00000376033;ENST00000376010	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.1364	17.8644	0.88792	0.0:0.0:1.0:0.0	.	.	.	.	X	1111;1111;336	.	ENSP00000365175:E1111X	E	+	1	0	PRRC2A	31707760	1.000000	0.71417	0.987000	0.45799	0.950000	0.60333	8.855000	0.92236	2.761000	0.94854	0.655000	0.94253	GAG	PRRC2A	-	NULL	ENSG00000204469		0.647	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1		0.00	42	0	G	NM_080686		31599781	+1			no_errors	ENST00000376007	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	1.000	T
PRSS33	260429	genome.wustl.edu	37	16	2834785	2834785	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:2834785G>T	ENST00000293851.5	-	6	862	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	PRSS33_ENST00000570702.1_Missense_Mutation_p.L235M|PRSS33_ENST00000576886.1_3'UTR	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN	protease, serine, 33	235	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			prostate(1)	1						AGGCAGGTCAGAGGTCCCCCA	0.642																																					NSCLC(194;489 2153 16702 19171 27758)												0													22.0	26.0	24.0					16																	2834785		2024	4197	6221	SO:0001583	missense	0			AF536382	CCDS42110.1	16p13.3	2014-09-04			ENSG00000103355	ENSG00000103355		"""Serine peptidases / Serine peptidases"""	30405	protein-coding gene	gene with protein product		613797				12795636	Standard	NM_152891		Approved	EOS	uc002cro.1	Q8NF86	OTTHUMG00000177360	ENST00000293851.5:c.703C>A	16.37:g.2834785G>T	ENSP00000293851:p.Leu235Met		A6NNQ3|Q8N171	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L235M	ENST00000293851.5	37	c.703	CCDS42110.1	16	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132781	0.56828	.	.	ENSG00000103355	ENST00000293851	D	0.91843	-2.92	4.72	4.72	0.59763	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43747	D	0.000540	D	0.95947	0.8680	M	0.82193	2.58	0.46586	D	0.999117	D	0.76494	0.999	D	0.80764	0.994	D	0.96154	0.9110	10	0.54805	T	0.06	.	15.2028	0.73153	0.0:0.0:1.0:0.0	.	235	Q8NF86	PRS33_HUMAN	M	235	ENSP00000293851:L235M	ENSP00000293851:L235M	L	-	1	2	PRSS33	2774786	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.620000	0.36976	2.174000	0.68829	0.556000	0.70494	CTG	PRSS33	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000103355		0.642	PRSS33-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS33	HGNC	protein_coding	OTTHUMT00000436446.1	-	0.00	71	0	G	NM_152891		2834785	-1	tier1	-	no_errors	ENST00000293851	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
U66059.58	0	genome.wustl.edu	37	7	141988448	141988448	+	lincRNA	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:141988448C>A	ENST00000486508.1	+	0	134				PRSS3P3_ENST00000463748.1_RNA																							GGTGTTGTCCCAGCCAGAGAT	0.507																																																	0																																												0																															7.37:g.141988448C>A				RNA	SNP	-	NULL	ENST00000486508.1	37	NULL		7																																																																																			PRSS3P3	-	-	ENSG00000242115		0.507	U66059.58-001	KNOWN	basic	lincRNA	PRSS3P3	HGNC	lincRNA	OTTHUMT00000351333.2	-	0.00	39	0	C			141988448	-1	tier1	-	no_errors	ENST00000463748	ensembl	human	known	74_37	rna	36.84	12	7	SNP	1.000	A
PSEN1	5663	genome.wustl.edu	37	14	73664779	73664779	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:73664779G>T	ENST00000324501.5	+	8	1082	c.810G>T	c.(808-810)atG>atT	p.M270I	PSEN1_ENST00000394164.1_Missense_Mutation_p.M266I|PSEN1_ENST00000406768.1_Missense_Mutation_p.M178I|PSEN1_ENST00000557511.1_Missense_Mutation_p.M270I|PSEN1_ENST00000357710.4_Missense_Mutation_p.M266I|PSEN1_ENST00000261970.3_Missense_Mutation_p.M270I|PSEN1_ENST00000344094.3_Missense_Mutation_p.M270I	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	270					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CACTTCGTATGCTGGTTGAAA	0.353																																																	0													68.0	65.0	66.0					14																	73664779		2203	4299	6502	SO:0001583	missense	0			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.810G>T	14.37:g.73664779G>T	ENSP00000326366:p.Met270Ile		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.M270I	ENST00000324501.5	37	c.810	CCDS9812.1	14	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429549	0.25726	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99499	-6.02;-6.02;-6.02;-6.02;-6.02;-6.02;-6.02	5.82	5.82	0.92795	.	0.081162	0.85682	D	0.000000	D	0.97592	0.9211	N	0.25647	0.755	0.54753	D	0.999986	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	D	0.96972	0.9709	10	0.07175	T	0.84	-16.1787	20.099	0.97865	0.0:0.0:1.0:0.0	.	266;270	P49768-2;P49768	.;PSN1_HUMAN	I	270;266;270;270;266;270;178	ENSP00000326366:M270I;ENSP00000350342:M266I;ENSP00000261970:M270I;ENSP00000339523:M270I;ENSP00000377719:M266I;ENSP00000451429:M270I;ENSP00000385948:M178I	ENSP00000261970:M270I	M	+	3	0	PSEN1	72734532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.192000	0.58378	2.752000	0.94435	0.655000	0.94253	ATG	PSEN1	-	pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Peptidase_A22A	ENSG00000080815		0.353	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2		0.00	62	0	G			73664779	+1			no_errors	ENST00000324501	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
PTGER4	5734	genome.wustl.edu	37	5	40691994	40691994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:40691994G>A	ENST00000302472.3	+	3	2005	c.981G>A	c.(979-981)tgG>tgA	p.W327*		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	327					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TAGACCCCTGGATATATATCC	0.498																																																	0													96.0	102.0	100.0					5																	40691994		2203	4300	6503	SO:0001587	stop_gained	0			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.981G>A	5.37:g.40691994G>A	ENSP00000302846:p.Trp327*		Q3MJ87	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.W327*	ENST00000302472.3	37	c.981	CCDS3930.1	5	.	.	.	.	.	.	.	.	.	.	G	45	11.529066	0.99572	.	.	ENSG00000171522	ENST00000302472	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-13.2645	19.5183	0.95174	0.0:0.0:1.0:0.0	.	.	.	.	X	327	.	ENSP00000302846:W327X	W	+	3	0	PTGER4	40727751	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.476000	0.97823	2.613000	0.88420	0.467000	0.42956	TGG	PTGER4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171522		0.498	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	-	0.00	35	0	G	NM_000958		40691994	+1	tier1	-	no_errors	ENST00000302472	ensembl	human	known	74_37	nonsense	26.42	39	14	SNP	1.000	A
RIMS2	9699	genome.wustl.edu	37	8	105236014	105236014	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:105236014A>T	ENST00000339750.2	+	1	135	c.135A>T	c.(133-135)gaA>gaT	p.E45D	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	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)			TGGAGGAGGAAGAAGGAGGTG	0.617										HNSCC(12;0.0054)																																							0													22.0	22.0	22.0					8																	105236014		876	1991	2867	SO:0001583	missense	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.135A>T	8.37:g.105236014A>T	ENSP00000342051:p.Glu45Asp		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.E45D	ENST00000339750.2	37	c.135		8	.	.	.	.	.	.	.	.	.	.	A	7.772	0.707681	0.15239	.	.	ENSG00000176406	ENST00000523362;ENST00000339750	T;T	0.18502	2.21;2.21	4.22	-8.44	0.00950	.	.	.	.	.	T	0.04634	0.0126	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.35001	-0.9806	6	0.11182	T	0.66	.	0.8799	0.01232	0.2153:0.183:0.3185:0.2832	.	.	.	.	D	45	ENSP00000428478:E45D;ENSP00000342051:E45D	ENSP00000342051:E45D	E	+	3	2	RIMS2	105305190	0.013000	0.17824	0.146000	0.22360	0.930000	0.56654	-1.237000	0.02922	-2.176000	0.00770	-0.468000	0.05107	GAA	RIMS2	-	NULL	ENSG00000176406		0.617	RIMS2-201	KNOWN	basic	protein_coding	RIMS2	HGNC	protein_coding		-	0.00	80	0	A	NM_001100117		105236014	+1	tier1	-	no_errors	ENST00000339750	ensembl	human	known	74_37	missense	28.33	43	17	SNP	0.025	T
RHPN1	114822	genome.wustl.edu	37	8	144462879	144462879	+	Missense_Mutation	SNP	G	G	A	rs374426571		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:144462879G>A	ENST00000289013.6	+	11	1438	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	471	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			ACGCTGCAGCGCTCACTGGCC	0.687																																																	0								G	HIS/ARG	0,4256		0,0,2128	20.0	25.0	24.0		1337	3.5	0.8	8		24	2,8480		0,2,4239	no	missense	RHPN1	NM_052924.2	29	0,2,6367	AA,AG,GG		0.0236,0.0,0.0157	probably-damaging	446/671	144462879	2,12736	2128	4241	6369	SO:0001583	missense	0			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1337G>A	8.37:g.144462879G>A	ENSP00000289013:p.Arg446His		Q8TAV1|Q96PV9	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.R446H	ENST00000289013.6	37	c.1337	CCDS47927.1	8	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531167	0.27387	0.0	2.36E-4	ENSG00000158106	ENST00000289013	T	0.19669	2.13	4.34	3.46	0.39613	.	0.125811	0.53938	N	0.000059	T	0.24547	0.0595	M	0.83384	2.64	0.38524	D	0.948794	B	0.30361	0.277	B	0.21708	0.036	T	0.11012	-1.0605	10	0.66056	D	0.02	-13.7618	7.8011	0.29174	0.1922:0.0:0.8078:0.0	.	446	Q8TCX5-2	.	H	446	ENSP00000289013:R446H	ENSP00000289013:R446H	R	+	2	0	RHPN1	144534022	0.919000	0.31177	0.761000	0.31378	0.018000	0.09664	2.990000	0.49401	0.814000	0.34374	0.313000	0.20887	CGC	RHPN1	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000158106		0.687	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	-	0.00	54	0	G			144462879	+1	tier1	-	no_errors	ENST00000289013	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.999	A
RNASE13	440163	genome.wustl.edu	37	14	21502315	21502315	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:21502315G>T	ENST00000382951.3	-	2	270	c.133C>A	c.(133-135)Cca>Aca	p.P45T	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	45						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		AAACCCTTTGGGTAGTTAACC	0.468																																																	0													102.0	93.0	96.0					14																	21502315		2203	4300	6503	SO:0001583	missense	0			AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.133C>A	14.37:g.21502315G>T	ENSP00000372410:p.Pro45Thr			Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain	p.P45T	ENST00000382951.3	37	c.133	CCDS32039.1	14	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330943	0.24167	.	.	ENSG00000206150	ENST00000382951	T	0.73152	-0.72	5.12	-8.69	0.00855	Ribonuclease A, domain (2);	1.455990	0.04021	N	0.299823	T	0.53965	0.1829	L	0.27053	0.805	0.09310	N	1	B	0.34181	0.44	B	0.38378	0.272	T	0.55995	-0.8052	10	0.62326	D	0.03	2.8347	5.1111	0.14809	0.286:0.4882:0.1316:0.0942	.	45	Q5GAN3	RNS13_HUMAN	T	45	ENSP00000372410:P45T	ENSP00000372410:P45T	P	-	1	0	RNASE13	20572155	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.821000	0.01713	-1.399000	0.02063	-0.142000	0.14014	CCA	RNASE13	-	superfamily_RNaseA_domain	ENSG00000206150		0.468	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE13	HGNC	protein_coding	OTTHUMT00000411744.1	-	0.00	67	0	G			21502315	-1	tier1	-	no_errors	ENST00000382951	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.000	T
RPL7A	6130	genome.wustl.edu	37	9	136215087	136215087	+	5'UTR	SNP	C	C	T	rs587696070		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:136215087C>T	ENST00000323345.6	+	0	19				SNORD24_ENST00000383884.1_RNA|MED22_ENST00000471524.1_5'Flank|SNORD36B_ENST00000363961.1_RNA|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000491289.1_5'Flank|MED22_ENST00000371999.1_5'Flank|SNORD36A_ENST00000362874.1_RNA|MED22_ENST00000344469.5_5'Flank|RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_5'Flank|MED22_ENST00000476080.1_5'Flank|MED22_ENST00000343730.5_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		CTCTCTCCTCCCGCCGCCCAA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		14725	0.0		0.0	False		,,,				2504	0.001																0													210.0	182.0	191.0					9																	136215087		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.-12C>T	9.37:g.136215087C>T			P11518|Q5T8U4	RNA	SNP	-	NULL	ENST00000323345.6	37	NULL	CCDS6965.1	9																																																																																			RPL7A	-	-	ENSG00000148303		0.582	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7A	HGNC	protein_coding	OTTHUMT00000054869.1	-	0.00	49	0	C	NM_000972		136215087	+1	tier1	-	no_errors	ENST00000463740	ensembl	human	known	74_37	rna	24.49	37	12	SNP	0.000	T
RPLP0	6175	genome.wustl.edu	37	12	120636490	120636490	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:120636490G>T	ENST00000551150.1	-	5	833	c.518C>A	c.(517-519)aCg>aAg	p.T173K	PXN-AS1_ENST00000542314.1_RNA|RPLP0_ENST00000552292.1_5'Flank|PXN-AS1_ENST00000535200.1_RNA|RPLP0_ENST00000313104.5_Intron|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000546989.1_Intron|RPLP0_ENST00000228306.4_Missense_Mutation_p.T173K|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000392514.4_Missense_Mutation_p.T173K			P05388	RLA0_HUMAN	ribosomal protein, large, P0	173					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTCAGCAGCGTGGCTTCGCT	0.517																																																	0													79.0	75.0	76.0					12																	120636490		2203	4297	6500	SO:0001583	missense	0			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.518C>A	12.37:g.120636490G>T	ENSP00000449328:p.Thr173Lys		Q3B7A4|Q9BVK4	Missense_Mutation	SNP	pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_L10/L12	p.T173K	ENST00000551150.1	37	c.518	CCDS9193.1	12	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390778	0.82902	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000228306;ENST00000546990;ENST00000547211;ENST00000550856	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	U	0.000000	T	0.81059	0.4744	M	0.93420	3.415	0.80722	D	1	B	0.21520	0.057	B	0.24701	0.055	T	0.81276	-0.1006	9	0.87932	D	0	.	19.4178	0.94709	0.0:0.0:1.0:0.0	.	173	P05388	RLA0_HUMAN	K	173;173;173;124;153;173	.	ENSP00000339027:T173K	T	-	2	0	RPLP0	119120873	1.000000	0.71417	0.954000	0.39281	0.987000	0.75469	9.707000	0.98725	2.601000	0.87937	0.655000	0.94253	ACG	RPLP0	-	NULL	ENSG00000089157		0.517	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPLP0	HGNC	protein_coding	OTTHUMT00000403448.3	-	0.00	89	0	G	NM_053275		120636490	-1	tier1	-	no_errors	ENST00000228306	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T
SAMD9L	219285	genome.wustl.edu	37	7	92762366	92762366	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:92762366T>G	ENST00000318238.4	-	5	4135	c.2919A>C	c.(2917-2919)aaA>aaC	p.K973N	SAMD9L_ENST00000411955.1_Missense_Mutation_p.K973N|SAMD9L_ENST00000437805.1_Missense_Mutation_p.K973N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	973					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)			CAACTTCTGTTTTTATTAGAA	0.398																																																	0													86.0	82.0	84.0					7																	92762366		2203	4300	6503	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.2919A>C	7.37:g.92762366T>G	ENSP00000326247:p.Lys973Asn		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.K973N	ENST00000318238.4	37	c.2919	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	T	2.943	-0.218557	0.06101	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.23147	1.92;1.92;1.92	5.22	-8.24	0.01029	.	1.554220	0.03614	N	0.235360	T	0.08268	0.0206	N	0.03154	-0.405	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20140	-1.0284	10	0.19590	T	0.45	-0.0769	3.9454	0.09346	0.2419:0.063:0.4905:0.2046	.	973	Q8IVG5	SAM9L_HUMAN	N	973	ENSP00000326247:K973N;ENSP00000405760:K973N;ENSP00000408796:K973N	ENSP00000326247:K973N	K	-	3	2	SAMD9L	92600302	0.000000	0.05858	0.720000	0.30636	0.033000	0.12548	-2.034000	0.01424	-0.968000	0.03578	-0.644000	0.03951	AAA	SAMD9L	-	NULL	ENSG00000177409		0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0.00	41	0	T	NM_152703		92762366	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	14.81	69	12	SNP	0.000	G
SBF1	6305	genome.wustl.edu	37	22	50898076	50898076	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr22:50898076C>T	ENST00000390679.3	-	27	3695	c.3511G>A	c.(3511-3513)Gtg>Atg	p.V1171M	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Missense_Mutation_p.V1172M|SBF1_ENST00000380817.3_Missense_Mutation_p.V1171M			O95248	MTMR5_HUMAN	SET binding factor 1	1171	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCTGGGGCACGATCAGCAGC	0.701																																																	0													14.0	17.0	16.0					22																	50898076		2162	4239	6401	SO:0001583	missense	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3511G>A	22.37:g.50898076C>T	ENSP00000375097:p.Val1171Met		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.V1171M	ENST00000390679.3	37	c.3511		22	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694271	0.88735	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.95171	-3.63;-3.63;-3.63	4.68	4.68	0.58851	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	D	0.98693	1.0697	10	0.87932	D	0	.	17.3562	0.87336	0.0:1.0:0.0:0.0	.	1171;1171	O95248;O95248-4	MTMR5_HUMAN;.	M	1171;1172;1181;1171	ENSP00000370196:V1171M;ENSP00000252027:V1172M;ENSP00000375097:V1171M	ENSP00000336522:V1181M	V	-	1	0	SBF1	49244942	1.000000	0.71417	0.997000	0.53966	0.689000	0.40095	5.662000	0.68032	2.429000	0.82318	0.561000	0.74099	GTG	SBF1	-	pfam_Myotubularin-like_Pase_dom	ENSG00000100241		0.701	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding			0.00	44	0	C			50898076	-1			no_errors	ENST00000380817	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T
SDK1	221935	genome.wustl.edu	37	7	4119167	4119167	+	Missense_Mutation	SNP	C	C	T	rs148455510	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:4119167C>T	ENST00000404826.2	+	22	3414	c.3275C>T	c.(3274-3276)cCa>cTa	p.P1092L	SDK1_ENST00000389531.3_Missense_Mutation_p.P1092L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1092	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGTTCCGGCCAGGCTATGAC	0.577																																																	0													153.0	137.0	142.0					7																	4119167		2203	4300	6503	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3275C>T	7.37:g.4119167C>T	ENSP00000385899:p.Pro1092Leu		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P1092L	ENST00000404826.2	37	c.3275	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691065	0.88735	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.61510	0.1;0.1	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.74450	0.3718	M	0.92970	3.365	0.80722	D	1	P;B	0.38300	0.626;0.153	P;B	0.44561	0.453;0.146	T	0.81291	-0.0999	10	0.72032	D	0.01	.	18.4917	0.90851	0.0:1.0:0.0:0.0	.	1092;1092	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	L	1092	ENSP00000385899:P1092L;ENSP00000374182:P1092L	ENSP00000374182:P1092L	P	+	2	0	SDK1	4085693	1.000000	0.71417	0.326000	0.25389	0.973000	0.67179	7.592000	0.82676	2.359000	0.80004	0.655000	0.94253	CCA	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0.00	105	0	C	NM_152744		4119167	+1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	24.49	37	12	SNP	0.989	T
SEMA5A	9037	genome.wustl.edu	37	5	9108359	9108359	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:9108359A>T	ENST00000382496.5	-	16	2631	c.1966T>A	c.(1966-1968)Tgg>Agg	p.W656R		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	656	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGCCTGTCCAGAACATGTGT	0.522																																																	0													73.0	69.0	70.0					5																	9108359		2203	4300	6503	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1966T>A	5.37:g.9108359A>T	ENSP00000371936:p.Trp656Arg		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.W656R	ENST00000382496.5	37	c.1966	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	A	24.1	4.491618	0.84962	.	.	ENSG00000112902	ENST00000382496	T	0.62639	0.01	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91202	0.4992	10	0.87932	D	0	.	13.214	0.59844	1.0:0.0:0.0:0.0	.	656	Q13591	SEM5A_HUMAN	R	656	ENSP00000371936:W656R	ENSP00000371936:W656R	W	-	1	0	SEMA5A	9161359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.190000	0.89714	2.371000	0.80710	0.533000	0.62120	TGG	SEMA5A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000112902		0.522	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2		0.00	56	0	A			9108359	-1			no_errors	ENST00000382496	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T
SEPT7	989	genome.wustl.edu	37	7	35871296	35871296	+	Intron	SNP	A	A	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:35871296A>C	ENST00000435235.1	+	2	339				SEPT7_ENST00000469679.2_Intron|SEPT7_ENST00000350320.6_Intron|SEPT7_ENST00000399034.2_Intron|SEPT7_ENST00000494488.2_5'Flank|SEPT7_ENST00000399035.3_Intron|SEPT7_ENST00000475109.1_Intron			Q16181	SEPT7_HUMAN	septin 7						cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TATTATGTTTATAGTTAGCTT	0.274																																																	0																																										SO:0001627	intron_variant	0			S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.-93-1112A>C	7.37:g.35871296A>C			Q52M76|Q6NX50	RNA	SNP	-	NULL	ENST00000435235.1	37	NULL		7																																																																																			SEPT7	-	-	ENSG00000122545		0.274	SEPT7-001	NOVEL	basic	protein_coding	SEPT7	HGNC	protein_coding	OTTHUMT00000338285.1	-	0.00	8	0	A	NM_001788		35871296	+1	tier1	-	no_errors	ENST00000493626	ensembl	human	known	74_37	rna	83.33	1	5	SNP	0.269	C
SERPINB4	6318	genome.wustl.edu	37	18	61309035	61309035	+	Missense_Mutation	SNP	C	C	T	rs201045585		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:61309035C>T	ENST00000341074.5	-	4	425	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	SERPINB4_ENST00000356424.6_Missense_Mutation_p.A104T	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	104					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A104T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGCTTGTTGGCGATCTTCAGC	0.408																																																	1	Substitution - Missense(1)	ovary(1)						C	THR/ALA	0,4406		0,0,2203	213.0	196.0	202.0		310	2.0	0.4	18		202	2,8598	2.2+/-6.3	0,2,4298	no	missense	SERPINB4	NM_002974.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		104/391	61309035	2,13004	2203	4300	6503	SO:0001583	missense	0			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.310G>A	18.37:g.61309035C>T	ENSP00000343445:p.Ala104Thr		A8K847	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.A104T	ENST00000341074.5	37	c.310	CCDS11986.1	18	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263904	0.39995	0.0	2.33E-4	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.87179	-2.22;-2.22	3.76	1.97	0.26223	Serpin domain (3);	0.519560	0.16085	N	0.230317	D	0.87613	0.6221	M	0.88775	2.98	0.34048	D	0.655763	B;B	0.29531	0.183;0.247	B;B	0.30251	0.101;0.113	D	0.86997	0.2114	10	0.54805	T	0.06	.	8.955	0.35812	0.0:0.8113:0.0:0.1887	.	104;104	P48594;Q9BYF7	SPB4_HUMAN;.	T	104	ENSP00000343445:A104T;ENSP00000348795:A104T	ENSP00000343445:A104T	A	-	1	0	SERPINB4	59460015	0.984000	0.35163	0.425000	0.26659	0.060000	0.15804	2.658000	0.46733	0.390000	0.25115	-0.894000	0.02916	GCC	SERPINB4	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000206073		0.408	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB4	HGNC	protein_coding	OTTHUMT00000133794.2		0.00	90	0	C	NM_175041		61309035	-1			no_errors	ENST00000341074	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.974	T
SERPING1	710	genome.wustl.edu	37	11	57382017	57382017	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:57382017C>A	ENST00000278407.4	+	8	1693	c.1466C>A	c.(1465-1467)cCt>cAt	p.P489H	SERPING1_ENST00000378324.2_Missense_Mutation_p.P437H|SERPING1_ENST00000403558.1_Missense_Mutation_p.P532H|SERPING1_ENST00000378323.4_Missense_Mutation_p.P494H|SERPING1_ENST00000340687.6_Missense_Mutation_p.P452H	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	489			P -> R (in HAE; phenotype consistent with hereditary angioedema type 2). {ECO:0000269|PubMed:7814636}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CACAAGTTCCCTGTCTTCATG	0.622																																																	0			GRCh37	CM950183	SERPING1	M							36.0	36.0	36.0					11																	57382017		2201	4296	6497	SO:0001583	missense	0			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1466C>A	11.37:g.57382017C>A	ENSP00000278407:p.Pro489His		A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.P489H	ENST00000278407.4	37	c.1466	CCDS7962.1	11	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224226	0.79576	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	4.92	4.92	0.64577	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	M	0.86953	2.85	0.51767	D	0.999939	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.83275	0.927;0.996;0.996	D	0.94065	0.7330	10	0.66056	D	0.02	.	16.2539	0.82501	0.0:1.0:0.0:0.0	.	494;489;489	B4E1F0;E9KL26;P05155	.;.;IC1_HUMAN	H	489;452;494;437;532	ENSP00000278407:P489H;ENSP00000341861:P452H;ENSP00000367574:P494H;ENSP00000367575:P437H;ENSP00000384420:P532H	ENSP00000278407:P489H	P	+	2	0	SERPING1	57138593	0.997000	0.39634	0.993000	0.49108	0.964000	0.63967	4.653000	0.61462	2.434000	0.82447	0.561000	0.74099	CCT	SERPING1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000149131		0.622	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	-	0.00	55	0	C	NM_000062		57382017	+1	tier1	-	no_errors	ENST00000278407	ensembl	human	known	74_37	missense	51.35	18	19	SNP	0.995	A
SLC22A14	9389	genome.wustl.edu	37	3	38357957	38357957	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:38357957C>T	ENST00000273173.4	+	9	1766	c.1675C>T	c.(1675-1677)Ctg>Ttg	p.L559L	SLC22A14_ENST00000448498.1_Silent_p.L559L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	559					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTCCTCCCTGCTGCCGGAAAC	0.612																																																	0													103.0	80.0	88.0					3																	38357957		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1675C>T	3.37:g.38357957C>T			A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L559	ENST00000273173.4	37	c.1675	CCDS2677.1	3																																																																																			SLC22A14	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000144671		0.612	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	HGNC	protein_coding	OTTHUMT00000253742.3	-	0.00	58	0	C	NM_004803		38357957	+1	tier1	-	no_errors	ENST00000273173	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.000	T
SI	6476	genome.wustl.edu	37	3	164735454	164735454	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:164735454C>T	ENST00000264382.3	-	31	3703	c.3641G>A	c.(3640-3642)gGc>gAc	p.G1214D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1214	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GACTGGATGGCCAATTACCTT	0.318										HNSCC(35;0.089)																																							0													49.0	46.0	47.0					3																	164735454		2203	4298	6501	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3641G>A	3.37:g.164735454C>T	ENSP00000264382:p.Gly1214Asp		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.G1214D	ENST00000264382.3	37	c.3641	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436028	0.83885	.	.	ENSG00000090402	ENST00000264382	D	0.97066	-4.23	5.04	5.04	0.67666	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98834	1.0752	10	0.87932	D	0	.	18.5834	0.91180	0.0:1.0:0.0:0.0	.	1214	P14410	SUIS_HUMAN	D	1214	ENSP00000264382:G1214D	ENSP00000264382:G1214D	G	-	2	0	SI	166218148	1.000000	0.71417	0.986000	0.45419	0.936000	0.57629	6.834000	0.75339	2.609000	0.88269	0.591000	0.81541	GGC	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1		0.00	48	0	C	NM_001041		164735454	-1			no_errors	ENST00000264382	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
SLC35B2	347734	genome.wustl.edu	37	6	44224423	44224423	+	Splice_Site	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:44224423G>T	ENST00000393812.3	-	2	347	c.204C>A	c.(202-204)acC>acA	p.T68T	SLC35B2_ENST00000538577.1_Splice_Site_p.P27Q|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000393810.1_Splice_Site_p.T68T|MIR4647_ENST00000583964.1_RNA	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	68					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCACACACCGGTCTCCAGGT	0.557																																																	0													123.0	133.0	129.0					6																	44224423		2203	4300	6503	SO:0001630	splice_region_variant	0			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.205+1C>A	6.37:g.44224423G>T			B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	pfam_UAA,pfam_DMT	p.P27Q	ENST00000393812.3	37	c.80	CCDS34462.1	6	.	.	.	.	.	.	.	.	.	.	g	10.27	1.302549	0.23736	.	.	ENSG00000157593	ENST00000538577	T	0.27557	1.66	4.23	1.77	0.24775	.	.	.	.	.	T	0.03608	0.0103	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42816	-0.9429	8	0.02654	T	1	-19.715	6.7664	0.23568	0.1424:0.0:0.3103:0.5473	.	27	F5H7Y9	.	Q	27	ENSP00000443845:P27Q	ENSP00000443845:P27Q	P	-	2	0	SLC35B2	44332401	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.951000	0.40333	0.192000	0.20272	-1.608000	0.00805	CCG	SLC35B2	-	NULL	ENSG00000157593		0.557	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B2	HGNC	protein_coding	OTTHUMT00000040724.2	-	0.00	68	0	G		Silent	44224423	-1	tier1	-	no_errors	ENST00000538577	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
SOCS7	30837	genome.wustl.edu	37	17	36508663	36508665	+	In_Frame_Del	DEL	AGC	AGC	-	rs549479183	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	AGC	AGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:36508663_36508665delAGC	ENST00000577233.1	+	1	536_538	c.536_538delAGC	c.(535-540)gagcag>gag	p.Q187del	SOCS7_ENST00000331159.5_In_Frame_Del_p.Q187del	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	187	Mediates interaction with SORBS3.|Poly-Gln.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.Q187delQ(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					AGTAGAGGGGagcagcagcagca	0.709																																																	1	Deletion - In frame(1)	central_nervous_system(1)								211,77,2506		71,3,66,14,46,1197						3.2	1.0		dbSNP_129	3	51,259,5698		15,1,20,48,162,2758	no	codingComplex	SOCS7	NM_014598.2		86,4,86,62,208,3955	A1A1,A1A2,A1R,A2A2,A2R,RR		5.1598,10.3078,6.7939				262,336,8204				SO:0001651	inframe_deletion	0			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.536_538delAGC	17.37:g.36508672_36508674delAGC	ENSP00000464034:p.Gln187del		A2VCU2|Q0IJ63	In_Frame_Del	DEL	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.Q183in_frame_del	ENST00000577233.1	37	c.536_538	CCDS32637.1	17																																																																																			SOCS7	-	NULL	ENSG00000174111		0.709	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS7	HGNC	protein_coding	OTTHUMT00000440486.4		0.00	34	0	AGC	XM_371052		36508665	+1	tier1		no_errors	ENST00000577233	ensembl	human	known	74_37	in_frame_del	8.33	33	3	DEL	0.984:0.981:0.980	-
MTCL1	23255	genome.wustl.edu	37	18	8784425	8784425	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:8784425C>G	ENST00000306329.11	+	5	2395	c.2395C>G	c.(2395-2397)Cca>Gca	p.P799A	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_Missense_Mutation_p.P439A|SOGA2_ENST00000517570.1_Missense_Mutation_p.P439A|SOGA2_ENST00000400050.3_Missense_Mutation_p.P439A																							GGCCAGCGAGCCATGCCCCAC	0.647																																																	0													55.0	70.0	65.0					18																	8784425		2203	4300	6503	SO:0001583	missense	0																														ENST00000306329.11:c.2395C>G	18.37:g.8784425C>G	ENSP00000305027:p.Pro799Ala			Missense_Mutation	SNP	pfam_SOGA	p.P439A	ENST00000306329.11	37	c.1315		18	.	.	.	.	.	.	.	.	.	.	C	2.667	-0.278399	0.05679	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.29655	1.56;1.56;1.56	5.13	2.09	0.27110	.	1.338180	0.05076	N	0.482544	T	0.24470	0.0593	L	0.50333	1.59	0.80722	D	1	B;B	0.24533	0.105;0.102	B;B	0.27500	0.037;0.08	T	0.46400	-0.9194	10	0.05525	T	0.97	-1.0467	4.1071	0.10041	0.1343:0.5942:0.1304:0.1411	.	460;439	A8MQ54;Q9Y4B5-3	.;.	A	460;439;439;439	ENSP00000429556:P439A;ENSP00000352927:P439A;ENSP00000382924:P439A	ENSP00000305027:P460A	P	+	1	0	CCDC165	8774425	0.300000	0.24435	0.734000	0.30879	0.108000	0.19459	1.379000	0.34340	1.108000	0.41662	0.591000	0.81541	CCA	SOGA2	-	NULL	ENSG00000168502		0.647	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	-	0.00	100	0	C			8784425	+1	tier1	-	no_errors	ENST00000359865	ensembl	human	known	74_37	missense	28.71	72	29	SNP	0.922	G
SORBS1	10580	genome.wustl.edu	37	10	97165894	97165894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:97165894delT	ENST00000361941.3	-	9	992	c.966delA	c.(964-966)aaafs	p.K322fs	SORBS1_ENST00000371246.2_Frame_Shift_Del_p.K322fs|SORBS1_ENST00000277982.5_Frame_Shift_Del_p.K322fs|SORBS1_ENST00000371249.2_Frame_Shift_Del_p.K290fs|SORBS1_ENST00000371239.1_Frame_Shift_Del_p.K167fs|SORBS1_ENST00000371247.2_Frame_Shift_Del_p.K322fs|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371245.3_Frame_Shift_Del_p.K253fs|SORBS1_ENST00000393949.1_Frame_Shift_Del_p.K313fs|SORBS1_ENST00000354106.3_Frame_Shift_Del_p.K313fs|SORBS1_ENST00000371241.1_Frame_Shift_Del_p.K158fs|SORBS1_ENST00000371227.4_Frame_Shift_Del_p.K322fs|SORBS1_ENST00000347291.4_Frame_Shift_Del_p.K190fs|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Frame_Shift_Del_p.K199fs|SORBS1_ENST00000353505.5_Frame_Shift_Del_p.K253fs	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TACTGAGTCGTTTTTGCTGTT	0.413																																																	0													104.0	94.0	97.0					10																	97165894		2203	4299	6502	SO:0001589	frameshift_variant	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.966delA	10.37:g.97165894delT	ENSP00000355136:p.Lys322fs			Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.K322fs	ENST00000361941.3	37	c.966	CCDS31255.1	10																																																																																			SORBS1	-	NULL	ENSG00000095637		0.413	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1		0.00	52	0	T			97165894	-1	tier1		no_errors	ENST00000361941	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	0.990	-
SPTBN4	57731	genome.wustl.edu	37	19	41008781	41008781	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:41008781G>C	ENST00000352632.3	+	11	1389	c.1303G>C	c.(1303-1305)Gac>Cac	p.D435H	SPTBN4_ENST00000598249.1_Missense_Mutation_p.D435H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D435H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D435H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D435H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	435					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACAGAGGTTTGACCACAAGGT	0.597																																																	0													99.0	101.0	100.0					19																	41008781		2203	4300	6503	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1303G>C	19.37:g.41008781G>C	ENSP00000263373:p.Asp435His		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.D435H	ENST00000352632.3	37	c.1303	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357250	0.82243	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.49720	0.77;0.77;0.77	4.35	4.35	0.52113	.	0.000000	0.64402	U	0.000006	T	0.64011	0.2560	L	0.56396	1.775	0.80722	D	1	D;P	0.76494	0.999;0.949	D;P	0.87578	0.998;0.744	T	0.62831	-0.6771	10	0.36615	T	0.2	.	15.7894	0.78343	0.0:0.0:1.0:0.0	.	435;435	Q9H254;Q71S06	SPTN4_HUMAN;.	H	435	ENSP00000263373:D435H;ENSP00000340345:D435H;ENSP00000340741:D435H	ENSP00000340345:D435H	D	+	1	0	SPTBN4	45700621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.602000	0.98312	2.250000	0.74265	0.563000	0.77884	GAC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.597	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0.00	16	0	G			41008781	+1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	C
SRCAP	10847	genome.wustl.edu	37	16	30734421	30734421	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:30734421C>G	ENST00000262518.4	+	24	4415	c.4030C>G	c.(4030-4032)Cca>Gca	p.P1344A	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1186A|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1282A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1344	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTGTTGAATCCACGCCCCAC	0.622																																																	0													83.0	83.0	83.0					16																	30734421		2197	4300	6497	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4030C>G	16.37:g.30734421C>G	ENSP00000262518:p.Pro1344Ala		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.P1344A	ENST00000262518.4	37	c.4030	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123736	0.37436	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92965	-3.14;-2.91;-2.83	5.83	2.79	0.32731	.	0.236521	0.30401	N	0.009714	T	0.80939	0.4720	N	0.14661	0.345	0.25180	N	0.990218	B;B;B	0.18310	0.011;0.027;0.004	B;B;B	0.13407	0.009;0.009;0.004	T	0.68435	-0.5409	10	0.44086	T	0.13	-0.9197	3.1598	0.06516	0.1439:0.5652:0.139:0.152	.	1186;1282;1344	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	A	1344;1282;1186	ENSP00000262518:P1344A;ENSP00000378499:P1282A;ENSP00000343042:P1186A	ENSP00000262518:P1344A	P	+	1	0	SRCAP	30641922	0.997000	0.39634	0.999000	0.59377	0.988000	0.76386	1.355000	0.34068	0.373000	0.24621	0.655000	0.94253	CCA	SRCAP	-	NULL	ENSG00000080603		0.622	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	-	0.00	58	0	C	NM_006662		30734421	+1	tier1	-	no_errors	ENST00000262518	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	G
SRSF5	6430	genome.wustl.edu	37	14	70238180	70238180	+	3'UTR	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:70238180C>T	ENST00000553521.1	+	0	2274				SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000553635.1_3'UTR|SRSF5_ENST00000394366.2_3'UTR|SRSF5_ENST00000557154.1_3'UTR			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						GGCAATTAAACTGTAAATAAC	0.418																																																	0													80.0	88.0	85.0					14																	70238180		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.*2C>T	14.37:g.70238180C>T			O14797|Q16662|Q49AD6|Q6FGE0	RNA	SNP	-	NULL	ENST00000553521.1	37	NULL	CCDS32109.1	14																																																																																			SRSF5	-	-	ENSG00000100650		0.418	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	-	0.00	41	0	C	NM_001039465		70238180	+1	tier1	-	no_errors	ENST00000556587	ensembl	human	known	74_37	rna	18.52	22	5	SNP	1.000	T
SSTR4	6754	genome.wustl.edu	37	20	23016449	23016449	+	Missense_Mutation	SNP	G	G	T	rs377034050		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:23016449G>T	ENST00000255008.3	+	1	393	c.329G>T	c.(328-330)cGc>cTc	p.R110L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	110					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCGCCCTGCGCCACTGGCCC	0.642																																					Esophageal Squamous(15;850 1104 16640)												0													86.0	86.0	86.0					20																	23016449		2201	4297	6498	SO:0001583	missense	0				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.329G>T	20.37:g.23016449G>T	ENSP00000255008:p.Arg110Leu		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1	p.R110L	ENST00000255008.3	37	c.329	CCDS42856.1	20	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758349	0.49468	.	.	ENSG00000132671	ENST00000255008	T	0.19938	2.11	3.73	0.58	0.17402	GPCR, rhodopsin-like superfamily (1);	0.181706	0.36854	U	0.002378	T	0.12689	0.0308	L	0.47190	1.495	0.29424	N	0.860326	B	0.14805	0.011	B	0.17433	0.018	T	0.16660	-1.0395	10	0.21540	T	0.41	.	0.5274	0.00623	0.2938:0.1786:0.3453:0.1823	.	110	P31391	SSR4_HUMAN	L	110	ENSP00000255008:R110L	ENSP00000255008:R110L	R	+	2	0	SSTR4	22964449	0.014000	0.17966	0.963000	0.40424	0.967000	0.64934	-0.186000	0.09670	-0.034000	0.13713	0.561000	0.74099	CGC	SSTR4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt	ENSG00000132671		0.642	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	HGNC	protein_coding	OTTHUMT00000078308.1		0.00	28	0	G			23016449	+1			no_errors	ENST00000255008	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.992	T
STAB2	55576	genome.wustl.edu	37	12	104014254	104014254	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:104014254G>T	ENST00000388887.2	+	4	544	c.340G>T	c.(340-342)Ggt>Tgt	p.G114C		NM_017564.9	NP_060034.9			stabilin 2									p.G114C(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGAGTGCCCAGGTGGAGCGGG	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)											89.0	76.0	80.0					12																	104014254		2202	4296	6498	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.340G>T	12.37:g.104014254G>T	ENSP00000373539:p.Gly114Cys			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G114C	ENST00000388887.2	37	c.340	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600875	0.66332	.	.	ENSG00000136011	ENST00000388887	D	0.87809	-2.3	4.98	4.98	0.66077	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.205963	0.41294	D	0.000903	D	0.94571	0.8251	M	0.93594	3.435	0.47441	D	0.999427	D	0.89917	1.0	D	0.68943	0.961	D	0.95186	0.8304	10	0.54805	T	0.06	.	14.1125	0.65132	0.0:0.0:1.0:0.0	.	114	Q8WWQ8	STAB2_HUMAN	C	114	ENSP00000373539:G114C	ENSP00000373539:G114C	G	+	1	0	STAB2	102538384	1.000000	0.71417	0.993000	0.49108	0.741000	0.42261	4.980000	0.63812	2.464000	0.83262	0.549000	0.68633	GGT	STAB2	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000136011		0.488	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1		0.00	58	0	G			104014254	+1			no_errors	ENST00000388887	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.995	T
STAG3	10734	genome.wustl.edu	37	7	99801705	99801705	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:99801705G>A	ENST00000426455.1	+	26	3169	c.2762G>A	c.(2761-2763)cGa>cAa	p.R921Q	STAG3_ENST00000317296.5_Missense_Mutation_p.R921Q|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R863Q|GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	921					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.R921Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGATTGACCGAAGTCATTGT	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											166.0	135.0	145.0					7																	99801705		2203	4300	6503	SO:0001583	missense	0			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2762G>A	7.37:g.99801705G>A	ENSP00000400359:p.Arg921Gln		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R921Q	ENST00000426455.1	37	c.2762	CCDS34703.1	7	.	.	.	.	.	.	.	.	.	.	.	18.41	3.618467	0.66787	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296	T;T;T	0.22743	1.94;1.94;1.94	5.71	4.83	0.62350	.	0.174834	0.26944	N	0.021716	T	0.26159	0.0638	L	0.46614	1.455	0.80722	D	1	B;D;P	0.63046	0.243;0.992;0.676	B;P;B	0.50570	0.09;0.644;0.139	T	0.02238	-1.1190	10	0.87932	D	0	-7.404	8.9533	0.35803	0.167:0.0:0.833:0.0	.	863;921;921	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	Q	921;863;921	ENSP00000400359:R921Q;ENSP00000377586:R863Q;ENSP00000319318:R921Q	ENSP00000319318:R921Q	R	+	2	0	STAG3	99639641	0.992000	0.36948	0.884000	0.34674	0.911000	0.54048	2.625000	0.46452	1.428000	0.47296	0.655000	0.94253	CGA	STAG3	-	NULL	ENSG00000066923		0.507	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2	-	0.00	32	0	G	NM_012447		99801705	+1	tier1	-	no_errors	ENST00000317296	ensembl	human	known	74_37	missense	19.48	62	15	SNP	0.960	A
STARD9	57519	genome.wustl.edu	37	15	42973663	42973663	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:42973663A>T	ENST00000290607.7	+	21	1975	c.1918A>T	c.(1918-1920)Agg>Tgg	p.R640W		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	640					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TCAGACACCGAGGGATGGAGA	0.532																																																	0													92.0	98.0	97.0					15																	42973663		692	1590	2282	SO:0001583	missense	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.1918A>T	15.37:g.42973663A>T	ENSP00000290607:p.Arg640Trp		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R640W	ENST00000290607.7	37	c.1918	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	A	18.02	3.531030	0.64972	.	.	ENSG00000159433	ENST00000290607	T	0.67345	-0.26	5.46	1.44	0.22558	.	.	.	.	.	T	0.56790	0.2009	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.52426	-0.8577	7	0.87932	D	0	.	7.5163	0.27602	0.7064:0.1568:0.1368:0.0	.	.	.	.	W	640	ENSP00000290607:R640W	ENSP00000290607:R640W	R	+	1	2	STARD9	40760955	0.008000	0.16893	0.000000	0.03702	0.144000	0.21451	0.654000	0.24918	0.435000	0.26365	0.533000	0.62120	AGG	STARD9	-	NULL	ENSG00000159433		0.532	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	-	0.00	32	0	A			42973663	+1	tier1	-	no_errors	ENST00000290607	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.000	T
STON1	11037	genome.wustl.edu	37	2	48809570	48809570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:48809570C>T	ENST00000406226.1	+	3	1993	c.1798C>T	c.(1798-1800)Cga>Tga	p.R600*	STON1_ENST00000309835.3_Nonsense_Mutation_p.R600*|STON1_ENST00000404752.1_Nonsense_Mutation_p.R600*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.R600*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.R600*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.R600*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.R600*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.R600*	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	600	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATGAACCGCCGAGCATGTCT	0.483																																																	0													68.0	70.0	69.0					2																	48809570		2203	4300	6503	SO:0001587	stop_gained	0			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1798C>T	2.37:g.48809570C>T	ENSP00000384615:p.Arg600*		A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Nonsense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.R600*	ENST00000406226.1	37	c.1798	CCDS1841.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.646426	0.97730	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	.	.	.	5.65	2.61	0.31194	.	0.192185	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	15.421	0.75011	0.7349:0.2651:0.0:0.0	.	.	.	.	X	600	.	ENSP00000310969:R600X	R	+	1	2	STON1-GTF2A1L;STON1	48663074	1.000000	0.71417	0.822000	0.32727	0.712000	0.41017	2.948000	0.49066	0.328000	0.23435	0.655000	0.94253	CGA	STON1-GTF2A1L	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	ENSG00000068781		0.483	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	-	0.00	60	0	C	NM_006873		48809570	+1	tier1	-	no_errors	ENST00000309827	ensembl	human	known	74_37	nonsense	51.16	21	22	SNP	0.998	T
SYNDIG1	79953	genome.wustl.edu	37	20	24523982	24523982	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:24523982G>A	ENST00000376862.3	+	2	882	c.249G>A	c.(247-249)gtG>gtA	p.V83V		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	83					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						AGCAGTCAGTGGAGTCCCGCT	0.677																																																	0													45.0	44.0	44.0					20																	24523982		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.249G>A	20.37:g.24523982G>A			Q6IA30|Q9H514	Silent	SNP	pfam_CD225/Dispanin_fam	p.V83	ENST00000376862.3	37	c.249	CCDS13164.1	20																																																																																			SYNDIG1	-	NULL	ENSG00000101463		0.677	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1		0.00	43	0	G	NM_024893		24523982	+1			no_errors	ENST00000376862	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.964	A
TAGLN3	29114	genome.wustl.edu	37	3	111719776	111719776	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:111719776C>T	ENST00000393917.2	+	3	890	c.338C>T	c.(337-339)aCg>aTg	p.T113M	TAGLN3_ENST00000455401.2_Missense_Mutation_p.T113M|TAGLN3_ENST00000273368.4_Missense_Mutation_p.T113M|TAGLN3_ENST00000486460.1_Missense_Mutation_p.T29M|TAGLN3_ENST00000478951.1_Missense_Mutation_p.T113M	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	113	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						ATCTTTCAGACGGTGGATCTA	0.473																																																	0													125.0	128.0	127.0					3																	111719776		2203	4300	6503	SO:0001583	missense	0			AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.338C>T	3.37:g.111719776C>T	ENSP00000377494:p.Thr113Met		D3DN64|Q96A74	Missense_Mutation	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain,pfscan_Calponin_repeat	p.T113M	ENST00000393917.2	37	c.338	CCDS33816.1	3	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664767	0.88251	.	.	ENSG00000144834	ENST00000478951;ENST00000393917;ENST00000273368;ENST00000540095;ENST00000455401;ENST00000486460;ENST00000469385	T;T;T;T;T;D	0.95307	0.03;0.03;0.03;0.03;0.75;-3.67	5.85	5.85	0.93711	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98526	0.9508	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99383	1.0923	10	0.87932	D	0	-3.5105	18.9384	0.92595	0.0:1.0:0.0:0.0	.	113	Q9UI15	TAGL3_HUMAN	M	113;113;113;113;113;29;53	ENSP00000419105:T113M;ENSP00000377494:T113M;ENSP00000273368:T113M;ENSP00000391160:T113M;ENSP00000417904:T29M;ENSP00000420346:T53M	ENSP00000273368:T113M	T	+	2	0	TAGLN3	113202466	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.770000	0.95276	0.650000	0.86243	ACG	TAGLN3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain	ENSG00000144834		0.473	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN3	HGNC	protein_coding	OTTHUMT00000354331.1	-	0.00	78	0	C	NM_013259		111719776	+1	tier1	-	no_errors	ENST00000273368	ensembl	human	known	74_37	missense	23.40	72	22	SNP	1.000	T
TAPT1	202018	genome.wustl.edu	37	4	16164964	16164964	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:16164964G>A	ENST00000405303.2	-	14	1754	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	TAPT1_ENST00000399920.3_Silent_p.D446D|TAPT1_ENST00000304584.8_3'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	557					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TTGTGAACCTGTCTATCTCTA	0.433																																																	0													176.0	172.0	173.0					4																	16164964		1883	4118	6001	SO:0001819	synonymous_variant	0			AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1671C>T	4.37:g.16164964G>A			Q8N2S3|Q9NZK9	Silent	SNP	pfam_Membrane_Tatp1/CMV_rcpt	p.D557	ENST00000405303.2	37	c.1671	CCDS47030.1	4																																																																																			TAPT1	-	NULL	ENSG00000169762		0.433	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPT1	HGNC	protein_coding	OTTHUMT00000359568.1	-	0.00	50	0	G	NM_153365		16164964	-1	tier1	-	no_errors	ENST00000405303	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	A
TCEB3C	162699	genome.wustl.edu	37	18	44555352	44555352	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:44555352A>G	ENST00000330682.2	-	1	1097	c.862T>C	c.(862-864)Ttt>Ctt	p.F288L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						ATGGCCTCAAAAGCGGACAGC	0.617																																																	0													121.0	128.0	126.0					18																	44555352		1792	3436	5228	SO:0001583	missense	0			AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.862T>C	18.37:g.44555352A>G	ENSP00000328232:p.Phe288Leu			Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.F288L	ENST00000330682.2	37	c.862	CCDS11931.1	18	.	.	.	.	.	.	.	.	.	.	a	0.022	-1.409181	0.01155	.	.	ENSG00000183791	ENST00000330682	T	0.09817	2.94	1.34	-1.64	0.08318	.	4.697510	0.01331	N	0.011242	T	0.05273	0.0140	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29971	-0.9994	10	0.10111	T	0.7	.	4.5973	0.12336	0.4161:0.0:0.5839:0.0	.	288	Q8NG57	ELOA3_HUMAN	L	288	ENSP00000328232:F288L	ENSP00000328232:F288L	F	-	1	0	TCEB3C	42809350	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.541000	0.06099	-0.419000	0.07439	-0.425000	0.05940	TTT	TCEB3C	-	NULL	ENSG00000183791		0.617	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3C	HGNC	protein_coding	OTTHUMT00000255902.1	-	0.00	406	0	A	NM_145653		44555352	-1	tier1	-	no_errors	ENST00000330682	ensembl	human	known	74_37	missense	6.90	243	18	SNP	0.000	G
TCEB3B	51224	genome.wustl.edu	37	18	44561163	44561163	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:44561163G>C	ENST00000332567.4	-	1	825	c.473C>G	c.(472-474)cCc>cGc	p.P158R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	158					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCTATTCTGGGGCACTTTCT	0.672																																																	0													48.0	56.0	53.0					18																	44561163		2202	4299	6501	SO:0001583	missense	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.473C>G	18.37:g.44561163G>C	ENSP00000331302:p.Pro158Arg		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.P158R	ENST00000332567.4	37	c.473	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	G	2.571	-0.299599	0.05532	.	.	ENSG00000206181	ENST00000332567	T	0.06687	3.27	2.33	-4.65	0.03339	.	367.945000	0.00166	N	0.000011	T	0.03915	0.0110	N	0.12182	0.205	0.09310	N	1	B	0.18461	0.028	B	0.11329	0.006	T	0.33214	-0.9877	10	0.15499	T	0.54	-4.9274	1.9285	0.03322	0.2406:0.4256:0.18:0.1538	.	158	Q8IYF1	ELOA2_HUMAN	R	158	ENSP00000331302:P158R	ENSP00000331302:P158R	P	-	2	0	TCEB3B	42815161	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.481000	0.02323	-1.889000	0.01112	-0.443000	0.05667	CCC	TCEB3B	-	NULL	ENSG00000206181		0.672	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	-	0.00	123	0	G	NM_016427		44561163	-1	tier1	-	no_errors	ENST00000332567	ensembl	human	known	74_37	missense	58.06	13	18	SNP	0.000	C
TCF20	6942	genome.wustl.edu	37	22	42606752	42606752	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr22:42606752C>T	ENST00000359486.3	-	1	4696	c.4560G>A	c.(4558-4560)acG>acA	p.T1520T	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Silent_p.T1520T	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCGGTGAAATCGTCACTGTAT	0.473																																																	0													106.0	92.0	97.0					22																	42606752		2203	4300	6503	SO:0001819	synonymous_variant	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4560G>A	22.37:g.42606752C>T			A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	smart_Znf_PHD	p.T1520	ENST00000359486.3	37	c.4560	CCDS14033.1	22																																																																																			TCF20	-	NULL	ENSG00000100207		0.473	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	-	0.00	66	0	C	NM_181492		42606752	-1	tier1	-	no_errors	ENST00000359486	ensembl	human	known	74_37	silent	28.26	33	13	SNP	0.001	T
TDRD6	221400	genome.wustl.edu	37	6	46656366	46656366	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:46656366C>T	ENST00000316081.6	+	1	501	c.501C>T	c.(499-501)caC>caT	p.H167H	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Silent_p.H167H	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	167					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGGAGGTGCACGGGTGCGTCC	0.701																																																	0													34.0	35.0	34.0					6																	46656366		2201	4298	6499	SO:0001819	synonymous_variant	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.501C>T	6.37:g.46656366C>T			B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.H167	ENST00000316081.6	37	c.501	CCDS34470.1	6																																																																																			TDRD6	-	NULL	ENSG00000180113		0.701	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	-	0.00	44	0	C	XM_166443		46656366	+1	tier1	-	no_errors	ENST00000316081	ensembl	human	known	74_37	silent	66.67	9	18	SNP	0.634	T
TECTA	7007	genome.wustl.edu	37	11	121028656	121028656	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:121028656C>T	ENST00000392793.1	+	14	4683	c.4412C>T	c.(4411-4413)gCg>gTg	p.A1471V	TECTA_ENST00000264037.2_Missense_Mutation_p.A1471V			O75443	TECTA_HUMAN	tectorin alpha	1471					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGAGTGTGCGCTGCGCAAC	0.667																																																	0													42.0	40.0	41.0					11																	121028656		2203	4298	6501	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4412C>T	11.37:g.121028656C>T	ENSP00000376543:p.Ala1471Val			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.A1471V	ENST00000392793.1	37	c.4412	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949295	0.53186	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04862	3.54;3.54	5.55	4.58	0.56647	VWC out (1);	0.132425	0.50627	D	0.000116	T	0.03871	0.0109	N	0.11255	0.115	0.35126	D	0.767478	B	0.29862	0.259	B	0.19946	0.027	T	0.49214	-0.8963	10	0.23302	T	0.38	.	15.7864	0.78306	0.0:0.7558:0.2441:0.0	.	1471	O75443	TECTA_HUMAN	V	1471	ENSP00000376543:A1471V;ENSP00000264037:A1471V	ENSP00000264037:A1471V	A	+	2	0	TECTA	120533866	0.813000	0.29090	0.999000	0.59377	0.959000	0.62525	1.558000	0.36309	2.600000	0.87896	0.462000	0.41574	GCG	TECTA	-	smart_VWC_out	ENSG00000109927		0.667	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1		0.00	29	0	C	NM_005422		121028656	+1			no_errors	ENST00000264037	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.995	T
TEX264	51368	genome.wustl.edu	37	3	51718507	51718507	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:51718507G>A	ENST00000415259.1	+	3	1418	c.337G>A	c.(337-339)Gac>Aac	p.D113N	TEX264_ENST00000395057.1_Missense_Mutation_p.D113N|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000457573.1_Missense_Mutation_p.D113N|TEX264_ENST00000416589.1_Missense_Mutation_p.D113N|TEX264_ENST00000341333.5_Missense_Mutation_p.D113N			Q9Y6I9	TX264_HUMAN	testis expressed 264	113						extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TGAGCTCATCGACCTCTACCA	0.582																																																	0													71.0	58.0	63.0					3																	51718507		2203	4300	6503	SO:0001583	missense	0			AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.337G>A	3.37:g.51718507G>A	ENSP00000396628:p.Asp113Asn		B3KN87|Q9UKD7	Missense_Mutation	SNP	superfamily_Reg_factor_effector_dom	p.D113N	ENST00000415259.1	37	c.337	CCDS2833.1	3	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543614	0.27563	.	.	ENSG00000164081	ENST00000457573;ENST00000341333;ENST00000412249;ENST00000425781;ENST00000415259;ENST00000395057;ENST00000416589;ENST00000457927;ENST00000444233	T;T;T;T;T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32;4.32;4.32;4.32;4.32	4.45	2.61	0.31194	Regulatory factor, effector, bacterial (1);	1.191870	0.05851	N	0.621161	T	0.02380	0.0073	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.21688	0.059;0.024	B;B	0.20184	0.028;0.017	T	0.48031	-0.9070	10	0.27785	T	0.31	-11.2531	2.2693	0.04086	0.3125:0.4238:0.1613:0.1024	.	113;113	Q53GI2;Q9Y6I9	.;TX264_HUMAN	N	113	ENSP00000408186:D113N;ENSP00000340969:D113N;ENSP00000393736:D113N;ENSP00000405783:D113N;ENSP00000396628:D113N;ENSP00000378497:D113N;ENSP00000398802:D113N;ENSP00000407151:D113N;ENSP00000415957:D113N	ENSP00000340969:D113N	D	+	1	0	TEX264	51693547	0.515000	0.26210	0.963000	0.40424	0.741000	0.42261	1.076000	0.30729	0.831000	0.34780	0.305000	0.20034	GAC	TEX264	-	superfamily_Reg_factor_effector_dom	ENSG00000164081		0.582	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TEX264	HGNC	protein_coding	OTTHUMT00000346530.1		0.00	36	0	G	NM_015926		51718507	+1			no_errors	ENST00000341333	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.483	A
TF	7018	genome.wustl.edu	37	3	133485131	133485131	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:133485131C>T	ENST00000402696.3	+	12	1825	c.1340C>T	c.(1339-1341)gCt>gTt	p.A447V	TF_ENST00000264998.3_Missense_Mutation_p.A320V	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	447	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GGGTATTTTGCTATAGCAGTG	0.478																																																	0													226.0	218.0	220.0					3																	133485131		2203	4300	6503	SO:0001583	missense	0				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1340C>T	3.37:g.133485131C>T	ENSP00000385834:p.Ala447Val		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.A447V	ENST00000402696.3	37	c.1340	CCDS3080.1	3	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335664	0.41398	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.51574	0.7;0.7	4.87	3.03	0.35002	.	0.134573	0.64402	N	0.000002	T	0.42086	0.1187	L	0.37850	1.14	0.80722	D	1	P	0.42337	0.776	P	0.46110	0.504	T	0.24977	-1.0145	10	0.49607	T	0.09	-7.6507	9.6006	0.39601	0.0:0.7772:0.1428:0.08	.	447	P02787	TRFE_HUMAN	V	447;320	ENSP00000385834:A447V;ENSP00000264998:A320V	ENSP00000264998:A320V	A	+	2	0	TF	134967821	0.999000	0.42202	0.582000	0.28627	0.095000	0.18619	2.616000	0.46376	0.732000	0.32470	0.462000	0.41574	GCT	TF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin	ENSG00000091513		0.478	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	HGNC	protein_coding	OTTHUMT00000317775.1	-	0.00	56	0	C	NM_001063		133485131	+1	tier1	-	no_errors	ENST00000402696	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
TGM6	343641	genome.wustl.edu	37	20	2384435	2384435	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:2384435C>T	ENST00000202625.2	+	9	1363	c.1302C>T	c.(1300-1302)cgC>cgT	p.R434R	TGM6_ENST00000381423.1_Silent_p.R434R	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	434					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GTGACTCCCGCGTGGACATCA	0.587																																																	0													120.0	116.0	117.0					20																	2384435		2203	4300	6503	SO:0001819	synonymous_variant	0			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1302C>T	20.37:g.2384435C>T			Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.R434	ENST00000202625.2	37	c.1302	CCDS13025.1	20																																																																																			TGM6	-	NULL	ENSG00000166948		0.587	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	HGNC	protein_coding	OTTHUMT00000077581.2	-	0.00	19	0	C	NM_198994		2384435	+1	tier1	-	no_errors	ENST00000202625	ensembl	human	known	74_37	silent	27.03	27	10	SNP	0.138	T
THSD7A	221981	genome.wustl.edu	37	7	11501765	11501765	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:11501765A>G	ENST00000423059.4	-	10	2625	c.2374T>C	c.(2374-2376)Tcc>Ccc	p.S792P	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	792	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGATACTGGAGTCCCCTGCA	0.478										HNSCC(18;0.044)																																							0													79.0	79.0	79.0					7																	11501765		1934	4126	6060	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2374T>C	7.37:g.11501765A>G	ENSP00000406482:p.Ser792Pro			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S792P	ENST00000423059.4	37	c.2374	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	A	12.95	2.090735	0.36855	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59772	0.24	5.34	-0.142	0.13448	.	1.094480	0.06619	N	0.756999	T	0.49745	0.1575	L	0.44542	1.39	0.09310	N	1	B	0.31599	0.33	B	0.37480	0.251	T	0.44636	-0.9315	10	0.30078	T	0.28	.	6.2806	0.21005	0.2798:0.3933:0.0:0.3269	.	792	Q9UPZ6	THS7A_HUMAN	P	792	ENSP00000406482:S792P	ENSP00000262042:S792P	S	-	1	0	THSD7A	11468290	0.000000	0.05858	0.007000	0.13788	0.926000	0.56050	0.593000	0.23999	0.169000	0.19679	0.528000	0.53228	TCC	THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.478	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4		0.00	20	0	A	XM_928187.2		11501765	-1			no_errors	ENST00000423059	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.001	G
THAP5	168451	genome.wustl.edu	37	7	108205425	108205425	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:108205425G>C	ENST00000415914.3	-	3	551	c.398C>G	c.(397-399)aCa>aGa	p.T133R	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.T91R|THAP5_ENST00000438865.1_3'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	133					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						GGGCACATCTGTGTTAACTAT	0.358																																																	0													235.0	179.0	196.0					7																	108205425		692	1590	2282	SO:0001583	missense	0			AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.398C>G	7.37:g.108205425G>C	ENSP00000400500:p.Thr133Arg			Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.T133R	ENST00000415914.3	37	c.398	CCDS47687.1	7	.	.	.	.	.	.	.	.	.	.	G	0.994	-0.693049	0.03303	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.96651	-4.08;-2.59	4.17	-1.22	0.09494	.	.	.	.	.	D	0.90061	0.6896	L	0.27053	0.805	0.09310	N	0.999999	B	0.24186	0.099	B	0.24701	0.055	T	0.79764	-0.1666	8	.	.	.	.	4.3827	0.11302	0.2275:0.0:0.4911:0.2814	.	133	Q7Z6K1	THAP5_HUMAN	R	133;91	ENSP00000400500:T133R;ENSP00000322440:T91R	.	T	-	2	0	THAP5	107992661	0.084000	0.21492	0.000000	0.03702	0.002000	0.02628	1.154000	0.31688	-0.377000	0.07930	-0.808000	0.03180	ACA	THAP5	-	NULL	ENSG00000177683		0.358	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP5	HGNC	protein_coding	OTTHUMT00000337777.2	-	0.00	94	0	G	NM_182529		108205425	-1	tier1	-	no_errors	ENST00000415914	ensembl	human	known	74_37	missense	13.92	136	22	SNP	0.001	C
TIE1	7075	genome.wustl.edu	37	1	43779725	43779726	+	Intron	DEL	TG	TG	-	rs138876276		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:43779725_43779726delTG	ENST00000372476.3	+	14	2488				TIE1_ENST00000433781.2_Intron|TIE1_ENST00000473014.1_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1						angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGTACACCTtgtgtgtgtgtg	0.436																																																	0																																										SO:0001627	intron_variant	0			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2409+86TG>-	1.37:g.43779735_43779736delTG			B5A949|B5A950	RNA	DEL	-	NULL	ENST00000372476.3	37	NULL	CCDS482.1	1																																																																																			TIE1	-	-	ENSG00000066056		0.436	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1		0.00	16	0	TG	NM_005424		43779726	+1	tier1		no_errors	ENST00000471187	ensembl	human	known	74_37	rna	18.75	13	3	DEL	0.002:0.002	-
TMEM102	284114	genome.wustl.edu	37	17	7339829	7339829	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:7339829G>A	ENST00000323206.1	+	3	804	c.531G>A	c.(529-531)acG>acA	p.T177T	RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000293829.4_5'Flank|TMEM102_ENST00000396568.1_Silent_p.T177T|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|FGF11_ENST00000575235.1_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	177					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TCCACCGAACGGAGAGCGAAG	0.582																																																	0													79.0	75.0	76.0					17																	7339829		2203	4300	6503	SO:0001819	synonymous_variant	0			AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.531G>A	17.37:g.7339829G>A			D3DTP8	Silent	SNP	NULL	p.T177	ENST00000323206.1	37	c.531	CCDS11104.1	17																																																																																			TMEM102	-	NULL	ENSG00000181284		0.582	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM102	HGNC	protein_coding	OTTHUMT00000256405.1	-	0.00	55	0	G	NM_178518		7339829	+1	tier1	-	no_errors	ENST00000323206	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.000	A
TMEM117	84216	genome.wustl.edu	37	12	44782403	44782403	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:44782403C>T	ENST00000266534.3	+	8	1620	c.1493C>T	c.(1492-1494)gCa>gTa	p.A498V	TMEM117_ENST00000536799.1_Missense_Mutation_p.A394V|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	498						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCTACTAGTGCAACAGAAGCT	0.428																																																	0													155.0	148.0	150.0					12																	44782403		2203	4300	6503	SO:0001583	missense	0			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1493C>T	12.37:g.44782403C>T	ENSP00000266534:p.Ala498Val			Missense_Mutation	SNP	NULL	p.A498V	ENST00000266534.3	37	c.1493	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	C	4.547	0.101501	0.08731	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T	0.44482	0.92	5.73	-1.83	0.07833	.	1.774080	0.02519	N	0.092365	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.08391	-1.0724	10	0.36615	T	0.2	3.1507	2.9646	0.05903	0.1065:0.4894:0.1033:0.3008	.	394;498	F5H3Q2;Q9H0C3	.;TM117_HUMAN	V	498;394;246	ENSP00000266534:A498V	ENSP00000266534:A498V	A	+	2	0	TMEM117	43068670	0.000000	0.05858	0.000000	0.03702	0.569000	0.35902	-0.268000	0.08607	-0.732000	0.04856	0.650000	0.86243	GCA	TMEM117	-	NULL	ENSG00000139173		0.428	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1		0.00	16	0	C	NM_032256		44782403	+1			no_errors	ENST00000266534	ensembl	human	known	74_37	missense	35.71	9	5	SNP	0.000	T
TMEM106C	79022	genome.wustl.edu	37	12	48360478	48360478	+	Missense_Mutation	SNP	G	G	T	rs142283364		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:48360478G>T	ENST00000429772.2	+	6	678	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	TMEM106C_ENST00000552546.1_Missense_Mutation_p.G118W|TMEM106C_ENST00000552561.1_Missense_Mutation_p.G189W|TMEM106C_ENST00000256686.6_Missense_Mutation_p.G170W|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000449758.2_Missense_Mutation_p.G170W|TMEM106C_ENST00000550552.1_Missense_Mutation_p.G170W	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	189						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		GAATTTTACCGGGAAGGCCGA	0.453																																																	0								G	TRP/GLY,TRP/GLY,TRP/GLY,TRP/GLY	0,4406		0,0,2203	166.0	157.0	160.0		508,565,508,565	2.1	0.0	12	dbSNP_134	160	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	TMEM106C	NM_001143841.1,NM_001143842.1,NM_001143843.1,NM_024056.3	184,184,184,184	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	170/232,189/251,170/232,189/251	48360478	2,13004	2203	4300	6503	SO:0001583	missense	0			BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.565G>T	12.37:g.48360478G>T	ENSP00000400471:p.Gly189Trp		B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	pfam_DUF1356_TMEM106	p.G189W	ENST00000429772.2	37	c.565	CCDS8758.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.61|12.61	1.989257|1.989257	0.35131|0.35131	0.0|0.0	2.33E-4|2.33E-4	ENSG00000134291|ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000546749;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640|ENST00000547682	T;T;T;T;T;T;T;T|.	0.21734|.	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99|.	4.2|4.2	2.07|2.07	0.26955|0.26955	.|.	0.313725|.	0.28653|.	N|.	0.014589|.	T|T	0.21267|0.21267	0.0512|0.0512	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	D;P|.	0.56968|.	0.978;0.499|.	P;B|.	0.55260|.	0.772;0.061|.	T|T	0.24261|0.24261	-1.0165|-1.0165	10|5	0.49607|.	T|.	0.09|.	0.5637|0.5637	8.2344|8.2344	0.31616|0.31616	0.2363:0.0:0.7637:0.0|0.2363:0.0:0.7637:0.0	.|.	189;170|.	Q9BVX2;Q9BVX2-2|.	T106C_HUMAN;.|.	W|L	170;189;53;118;170;189;170;99|56	ENSP00000256686:G170W;ENSP00000446657:G189W;ENSP00000446622:G53W;ENSP00000448268:G118W;ENSP00000449737:G170W;ENSP00000400471:G189W;ENSP00000402705:G170W;ENSP00000447254:G99W|.	ENSP00000256686:G170W|.	G|R	+|+	1|2	0|0	TMEM106C|TMEM106C	46646745|46646745	0.658000|0.658000	0.27402|0.27402	0.002000|0.002000	0.10522|0.10522	0.996000|0.996000	0.88848|0.88848	3.915000|3.915000	0.56409|0.56409	0.549000|0.549000	0.28973|0.28973	0.655000|0.655000	0.94253|0.94253	GGG|CGG	TMEM106C	-	pfam_DUF1356_TMEM106	ENSG00000134291		0.453	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106C	HGNC	protein_coding	OTTHUMT00000406452.1		0.00	63	0	G	NM_024056		48360478	+1			no_errors	ENST00000429772	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.031	T
TMEM132D	121256	genome.wustl.edu	37	12	129566470	129566470	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:129566470T>C	ENST00000422113.2	-	7	2083	c.1757A>G	c.(1756-1758)gAg>gGg	p.E586G	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E124G	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	586					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCCGGCCGCCTCAGCCACAAA	0.652																																																	0													39.0	42.0	41.0					12																	129566470		2203	4299	6502	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1757A>G	12.37:g.129566470T>C	ENSP00000408581:p.Glu586Gly		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.E586G	ENST00000422113.2	37	c.1757	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	T	18.85	3.710523	0.68730	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13420	2.59;2.59	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000002	T	0.42177	0.1191	M	0.87180	2.865	0.58432	D	0.999999	D;D	0.89917	1.0;0.986	D;D	0.76575	0.988;0.921	T	0.49113	-0.8973	9	.	.	.	-46.3619	14.1971	0.65679	0.0:0.0:0.0:1.0	.	586;124	Q14C87;Q14C87-2	T132D_HUMAN;.	G	124;586	ENSP00000374092:E124G;ENSP00000408581:E586G	.	E	-	2	0	TMEM132D	128132423	1.000000	0.71417	0.402000	0.26371	0.624000	0.37722	5.998000	0.70653	1.745000	0.51790	0.459000	0.35465	GAG	TMEM132D	-	NULL	ENSG00000151952		0.652	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	-	0.00	77	0	T	NM_133448		129566470	-1	tier1	-	no_errors	ENST00000422113	ensembl	human	known	74_37	missense	13.79	50	8	SNP	0.974	C
TNIK	23043	genome.wustl.edu	37	3	170875251	170875251	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:170875251C>T	ENST00000436636.2	-	12	1563	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	TNIK_ENST00000470834.1_Missense_Mutation_p.E407K|TNIK_ENST00000538048.1_Missense_Mutation_p.E407K|TNIK_ENST00000357327.5_Missense_Mutation_p.E407K|TNIK_ENST00000341852.6_Missense_Mutation_p.E407K|TNIK_ENST00000460047.1_Missense_Mutation_p.E407K|TNIK_ENST00000488470.1_Missense_Mutation_p.E407K|TNIK_ENST00000284483.8_Missense_Mutation_p.E407K|TNIK_ENST00000369326.5_Missense_Mutation_p.E407K|TNIK_ENST00000475336.1_Missense_Mutation_p.E407K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	407	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTCCTCACCTCCTCCAgccgc	0.642																																																	0													10.0	14.0	13.0					3																	170875251		2017	4130	6147	SO:0001583	missense	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1219G>A	3.37:g.170875251C>T	ENSP00000399511:p.Glu407Lys		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.E407K	ENST00000436636.2	37	c.1219	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.419156	0.96092	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.45276	3.66;0.98;1.05;0.9;4.3;0.9;0.98;3.72;3.72;0.98	5.61	5.61	0.85477	.	0.111683	0.64402	D	0.000010	T	0.68421	0.2999	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D;D;D;P	0.56035	0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.956	D;D;D;D;D;D;D;D	0.70487	0.969;0.969;0.969;0.969;0.969;0.969;0.969;0.931	T	0.70691	-0.4802	10	0.62326	D	0.03	.	19.625	0.95674	0.0:1.0:0.0:0.0	.	407;407;407;407;407;407;407;407	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	K	407	ENSP00000399511:E407K;ENSP00000358332:E407K;ENSP00000443278:E407K;ENSP00000345352:E407K;ENSP00000284483:E407K;ENSP00000418156:E407K;ENSP00000349880:E407K;ENSP00000418916:E407K;ENSP00000418378:E407K;ENSP00000419990:E407K	ENSP00000284483:E407K	E	-	1	0	TNIK	172357945	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.818000	0.86416	2.646000	0.89796	0.555000	0.69702	GAG	TNIK	-	NULL	ENSG00000154310		0.642	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	-	0.00	61	0	C	XM_039796		170875251	-1	tier1	-	no_errors	ENST00000436636	ensembl	human	known	74_37	missense	16.36	46	9	SNP	1.000	T
TNXB	7148	genome.wustl.edu	37	6	32011608	32011608	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:32011608G>A	ENST00000375244.3	-	35	11649	c.11448C>T	c.(11446-11448)atC>atT	p.I3816I	TNXB_ENST00000375247.2_Silent_p.I3814I|TNXB_ENST00000451343.1_Silent_p.I245I			P22105	TENX_HUMAN	tenascin XB	3861	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.I245I(1)|p.I3881I(1)|p.I3816I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGCGCCTGGGATCAGCCCCT	0.627																																																	3	Substitution - coding silent(3)	lung(3)											82.0	101.0	94.0					6																	32011608		1511	2709	4220	SO:0001819	synonymous_variant	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.11448C>T	6.37:g.32011608G>A			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	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.I3814	ENST00000375244.3	37	c.11442		6																																																																																			TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2		0.00	64	0	G	NM_019105		32011608	-1			no_errors	ENST00000375247	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.038	A
TOMM40L	84134	genome.wustl.edu	37	1	161198299	161198299	+	Intron	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:161198299G>A	ENST00000367988.3	+	8	953				TOMM40L_ENST00000367987.1_Intron|MIR5187_ENST00000583479.1_RNA|NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000474486.1_Intron|TOMM40L_ENST00000545897.1_Intron	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like						ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAACAGGTGAGACCTCTGATC	0.483																																																	0													69.0	55.0	59.0					1																	161198299		2203	4300	6503	SO:0001627	intron_variant	0				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.684+5G>A	1.37:g.161198299G>A			B7Z4U0|D3DVG9	RNA	SNP	-	NULL	ENST00000367988.3	37	NULL	CCDS1227.1	1																																																																																			TOMM40L	-	-	ENSG00000158882		0.483	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM40L	HGNC	protein_coding	OTTHUMT00000083029.1	-	0.00	30	0	G	NM_032174		161198299	+1	tier1	-	no_errors	ENST00000475793	ensembl	human	known	74_37	rna	35.71	36	20	SNP	0.985	A
TOR1A	1861	genome.wustl.edu	37	9	132580868	132580868	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:132580868G>T	ENST00000351698.4	-	4	727	c.679C>A	c.(679-681)Cag>Aag	p.Q227K	TOR1A_ENST00000473084.1_5'Flank	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	227	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TCTTCCCTCTGCTTTCCACTC	0.493																																																	0													178.0	166.0	170.0					9																	132580868		2203	4300	6503	SO:0001583	missense	0			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.679C>A	9.37:g.132580868G>T	ENSP00000345719:p.Gln227Lys		B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr	p.Q227K	ENST00000351698.4	37	c.679	CCDS6930.1	9	.	.	.	.	.	.	.	.	.	.	G	4.199	0.035620	0.08148	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.37915	1.17	6.17	3.08	0.35506	.	0.457236	0.26757	N	0.022658	T	0.09555	0.0235	N	0.00783	-1.19	0.25992	N	0.982234	B	0.02656	0.0	B	0.01281	0.0	T	0.34900	-0.9810	10	0.02654	T	1	-30.1219	9.185	0.37165	0.0:0.199:0.3256:0.4754	.	227	O14656	TOR1A_HUMAN	K	196;227	ENSP00000345719:Q227K	ENSP00000345719:Q227K	Q	-	1	0	TOR1A	131620689	0.001000	0.12720	0.896000	0.35187	0.986000	0.74619	0.173000	0.16724	0.854000	0.35336	0.655000	0.94253	CAG	TOR1A	-	superfamily_P-loop_NTPase,pirsf_Torsin_subgr	ENSG00000136827		0.493	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	HGNC	protein_coding	OTTHUMT00000054611.1		0.00	65	0	G	NM_000113		132580868	-1			no_errors	ENST00000351698	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.799	T
TP53	7157	genome.wustl.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R213*	ENST00000269305.4	37	c.637	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	70	0	G	NM_000546		7578212	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	74.36	10	29	SNP	0.893	A
TRIM37	4591	genome.wustl.edu	37	17	57079002	57079002	+	Silent	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:57079002C>A	ENST00000262294.7	-	23	3028	c.2769G>T	c.(2767-2769)ggG>ggT	p.G923G	TRIM37_ENST00000393065.2_Silent_p.G889G|TRIM37_ENST00000376149.3_Intron|TRIM37_ENST00000393066.3_Silent_p.G923G	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	923					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGTCGTGAAACCCGCCCACAC	0.498									Mulibrey Nanism																																								0													164.0	131.0	142.0					17																	57079002		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2769G>T	17.37:g.57079002C>A			Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING	p.G923	ENST00000262294.7	37	c.2769	CCDS32694.1	17																																																																																			TRIM37	-	NULL	ENSG00000108395		0.498	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	-	0.00	38	0	C	NM_015294		57079002	-1	tier1	-	no_errors	ENST00000262294	ensembl	human	known	74_37	silent	75.68	9	28	SNP	0.010	A
TRMT13	54482	genome.wustl.edu	37	1	100606486	100606486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:100606486G>T	ENST00000370141.2	+	7	586	c.580G>T	c.(580-582)Gga>Tga	p.G194*		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	194					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.G194R(1)									AGCGGGAAAGGGAAAATTATC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											132.0	127.0	129.0					1																	100606486		2203	4300	6503	SO:0001587	stop_gained	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.580G>T	1.37:g.100606486G>T	ENSP00000359160:p.Gly194*		Q5VVL0|Q9NW65	Nonsense_Mutation	SNP	pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom	p.G194*	ENST00000370141.2	37	c.580	CCDS765.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486804	0.84854	.	.	ENSG00000122435	ENST00000370141	.	.	.	5.62	5.62	0.85841	.	0.047815	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.352	19.6541	0.95830	0.0:0.0:1.0:0.0	.	.	.	.	X	194	.	ENSP00000359160:G194X	G	+	1	0	CCDC76	100379074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.756000	0.91651	2.638000	0.89438	0.563000	0.77884	GGA	TRMT13	-	pfam_Methyltransferase_TRM13	ENSG00000122435		0.358	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT13	HGNC	protein_coding	OTTHUMT00000029919.1		0.00	57	0	G	NM_019083		100606486	+1			no_errors	ENST00000370141	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	T
TTC21A	199223	genome.wustl.edu	37	3	39151696	39151696	+	Intron	SNP	A	A	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:39151696A>C	ENST00000431162.2	+	3	402				GORASP1_ENST00000422110.2_5'Flank|TTC21A_ENST00000301819.6_Intron|GORASP1_ENST00000319283.3_5'Flank|TTC21A_ENST00000440121.1_Intron|GORASP1_ENST00000479927.1_5'Flank			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A											NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCAGAGATAACACAGCCCCT	0.562																																																	0																																										SO:0001627	intron_variant	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.268+66A>C	3.37:g.39151696A>C			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	NULL	p.T112P	ENST00000431162.2	37	c.334	CCDS46800.1	3																																																																																			TTC21A	-	NULL	ENSG00000168026		0.562	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	-	0.00	29	0	A	NM_145755		39151696	+1	tier1	-	no_errors	ENST00000425163	ensembl	human	known	74_37	missense	56.25	7	9	SNP	0.003	C
TTC3	7267	genome.wustl.edu	37	21	38537906	38537906	+	Missense_Mutation	SNP	G	G	T	rs373912303		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr21:38537906G>T	ENST00000399017.2	+	33	6137	c.3390G>T	c.(3388-3390)atG>atT	p.M1130I	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.M1130I|TTC3_ENST00000355666.1_Missense_Mutation_p.M1130I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1130					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTAACAAGATGTTCTCTGCAG	0.373																																					Ovarian(38;194 1649 35661)												0								G	ILE/MET,ILE/MET	0,4406		0,0,2203	128.0	140.0	136.0		3390,3390	1.1	1.0	21		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TTC3	NM_001001894.1,NM_003316.3	10,10	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign	1130/2026,1130/2026	38537906	1,13005	2203	4300	6503	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3390G>T	21.37:g.38537906G>T	ENSP00000381981:p.Met1130Ile		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.M1130I	ENST00000399017.2	37	c.3390	CCDS13651.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.43|10.43	1.348913|1.348913	0.24426|0.24426	0.0|0.0	1.16E-4|1.16E-4	ENSG00000182670|ENSG00000182670	ENST00000411496|ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749	.|T;T;T;T;T	.|0.09350	.|3.0;2.99;3.37;3.37;3.37	4.75|4.75	1.09|1.09	0.20402|0.20402	.|.	.|0.582196	.|0.16312	.|N	.|0.219946	T|T	0.09512|0.09512	0.0234|0.0234	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B;B	.|0.15473	.|0.008;0.013	.|B;B	.|0.11329	.|0.006;0.002	T|T	0.16453|0.16453	-1.0402|-1.0402	5|10	.|0.25751	.|T	.|0.34	-5.681|-5.681	9.0271|9.0271	0.36236|0.36236	0.4948:0.0:0.5052:0.0|0.4948:0.0:0.5052:0.0	.|.	.|188;1130	.|Q5GIT6;P53804	.|.;TTC3_HUMAN	F|I	286|1130;1112;1130;1130;1130	.|ENSP00000403943:M1130I;ENSP00000391891:M1112I;ENSP00000347889:M1130I;ENSP00000381981:M1130I;ENSP00000346791:M1130I	.|ENSP00000346791:M1130I	C|M	+|+	2|3	0|0	TTC3|TTC3	37459776|37459776	0.997000|0.997000	0.39634|0.39634	0.991000|0.991000	0.47740|0.47740	0.958000|0.958000	0.62258|0.62258	0.189000|0.189000	0.17037|0.17037	0.119000|0.119000	0.18210|0.18210	0.591000|0.591000	0.81541|0.81541	TGT|ATG	TTC3	-	NULL	ENSG00000182670		0.373	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	-	0.00	107	0	G			38537906	+1	tier1	-	no_errors	ENST00000354749	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.961	T
TTC3	7267	genome.wustl.edu	37	21	38537977	38537977	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr21:38537977C>A	ENST00000399017.2	+	33	6208	c.3461C>A	c.(3460-3462)cCt>cAt	p.P1154H	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.P1154H|TTC3_ENST00000355666.1_Missense_Mutation_p.P1154H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1154			P -> S (in dbSNP:rs1053840).		negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GGTTTAAAACCTTTTCTCTTG	0.398																																					Ovarian(38;194 1649 35661)												0													156.0	171.0	166.0					21																	38537977		2203	4300	6503	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3461C>A	21.37:g.38537977C>A	ENSP00000381981:p.Pro1154His		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.P1154H	ENST00000399017.2	37	c.3461	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377119	0.42105	.	.	ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749	T;T;T;T;T	0.12672	2.66;2.67;2.99;2.99;2.99	4.75	3.82	0.43975	.	0.620047	0.15266	N	0.271529	T	0.10208	0.0250	N	0.08118	0	0.80722	D	1	P;B	0.36315	0.547;0.412	B;B	0.41036	0.346;0.121	T	0.28004	-1.0057	10	0.72032	D	0.01	-0.0118	12.4396	0.55617	0.1878:0.8122:0.0:0.0	.	212;1154	Q5GIT6;P53804	.;TTC3_HUMAN	H	1154;1136;1154;1154;1154	ENSP00000403943:P1154H;ENSP00000391891:P1136H;ENSP00000347889:P1154H;ENSP00000381981:P1154H;ENSP00000346791:P1154H	ENSP00000346791:P1154H	P	+	2	0	TTC3	37459847	0.108000	0.22018	0.381000	0.26106	0.858000	0.48976	3.303000	0.51858	1.051000	0.40369	0.591000	0.81541	CCT	TTC3	-	NULL	ENSG00000182670		0.398	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	-	0.00	52	0	C			38537977	+1	tier1	-	no_errors	ENST00000354749	ensembl	human	known	74_37	missense	28.85	37	15	SNP	0.937	A
TTC39A	22996	genome.wustl.edu	37	1	51768201	51768201	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:51768201G>T	ENST00000447632.2	-	10	964	c.916C>A	c.(916-918)Ccc>Acc	p.P306T	TTC39A_ENST00000413473.2_Missense_Mutation_p.P274T|TTC39A_ENST00000371750.5_Missense_Mutation_p.P271T|TTC39A_ENST00000451380.1_Missense_Mutation_p.P270T|TTC39A_ENST00000262675.7_Missense_Mutation_p.P243T|TTC39A_ENST00000371747.3_Missense_Mutation_p.P305T|TTC39A_ENST00000262676.5_Missense_Mutation_p.P302T			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	306								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TTCAGGTAGGGCTTCAAGAGC	0.597																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											90.0	98.0	95.0					1																	51768201		2073	4193	6266	SO:0001583	missense	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.916C>A	1.37:g.51768201G>T	ENSP00000393952:p.Pro306Thr		B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.P306T	ENST00000447632.2	37	c.916		1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338692	0.81911	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000411642;ENST00000439482	T;T;T;T;T;T;T;T;T	0.61859	0.75;0.75;0.75;0.75;0.75;0.07;0.98;0.98;0.98	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.71871	2.18	0.80722	D	1	B;B;D;D;D;B;D	0.89917	0.09;0.11;0.992;1.0;0.996;0.261;0.99	B;B;D;D;D;B;D	0.74348	0.124;0.196;0.938;0.983;0.978;0.292;0.947	T	0.67593	-0.5631	10	0.14656	T	0.56	-15.0694	18.1595	0.89704	0.0:0.0:1.0:0.0	.	274;270;243;302;270;306;271	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9-3;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;.;TT39A_HUMAN;.	T	306;274;243;270;271;305;302;243;270	ENSP00000393952:P306T;ENSP00000406144:P274T;ENSP00000262675:P243T;ENSP00000397207:P270T;ENSP00000360815:P271T;ENSP00000360812:P305T;ENSP00000262676:P302T;ENSP00000408532:P243T;ENSP00000405803:P270T	ENSP00000262675:P243T	P	-	1	0	TTC39A	51540789	1.000000	0.71417	0.993000	0.49108	0.759000	0.43091	9.164000	0.94755	2.606000	0.88127	0.655000	0.94253	CCC	TTC39A	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000085831		0.597	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2		0.00	67	0	G			51768201	-1			no_errors	ENST00000447632	ensembl	human	known	74_37	missense	5.97	62	4	SNP	1.000	T
TTLL9	164395	genome.wustl.edu	37	20	30512818	30512818	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:30512818A>G	ENST00000375938.4	+	9	924	c.671A>G	c.(670-672)aAg>aGg	p.K224R	TTLL9_ENST00000375921.2_Missense_Mutation_p.K151R|TTLL9_ENST00000310998.4_Missense_Mutation_p.K174R|TTLL9_ENST00000535842.1_Missense_Mutation_p.K224R|TTLL9_ENST00000375934.4_Missense_Mutation_p.K206R|TTLL9_ENST00000375922.4_Missense_Mutation_p.K151R			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	224	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACAGGCCGCAAGTTTGACCTG	0.498																																																	0													66.0	66.0	66.0					20																	30512818		1943	4123	6066	SO:0001583	missense	0			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.671A>G	20.37:g.30512818A>G	ENSP00000365105:p.Lys224Arg		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.K224R	ENST00000375938.4	37	c.671	CCDS42863.1	20	.	.	.	.	.	.	.	.	.	.	A	21.7	4.181449	0.78677	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375935;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.75398	0.3844	H	0.98111	4.15	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.83346	-0.0005	10	0.87932	D	0	.	11.2437	0.48985	1.0:0.0:0.0:0.0	.	224;111	Q3SXZ7;B1ANK8	TTLL9_HUMAN;.	R	224;224;174;151;169;206;151	ENSP00000365105:K224R;ENSP00000442515:K224R;ENSP00000308980:K174R;ENSP00000365086:K151R;ENSP00000365100:K206R;ENSP00000365088:K151R	ENSP00000308980:K174R	K	+	2	0	TTLL9	29976479	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.246000	0.78247	1.895000	0.54865	0.454000	0.30748	AAG	TTLL9	-	pfam_TTL/TTLL_fam	ENSG00000131044		0.498	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL9	HGNC	protein_coding		-	0.00	41	0	A	NM_001008409		30512818	+1	tier1	-	no_errors	ENST00000375938	ensembl	human	known	74_37	missense	42.50	23	17	SNP	1.000	G
TXLNG	55787	genome.wustl.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	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	30	0	AG	NM_018360		16850850	+1	tier1		no_errors	ENST00000380122	ensembl	human	known	74_37	frame_shift_del	8.82	31	3	DEL	1.000:1.000	-
TXLNGY	246126	genome.wustl.edu	37	Y	21758039	21758039	+	RNA	DEL	A	A	-			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrY:21758039delA	ENST00000253320.4	+	0	3120																				haematopoietic_and_lymphoid_tissue(1)	1						TACTTCTTGGAAAAAAAAAAA	0.378													GA	15	0.0125209	0.0063	0.0059	1198	,	,		6405	0.0082		0.0063	False		,,,				1198	0.0038																0																																												0																															Y.37:g.21758039delA				RNA	DEL	-	NULL	ENST00000253320.4	37	NULL		Y																																																																																			TXLNG2P	-	-	ENSG00000131002		0.378	TXLNG2P-012	KNOWN	basic	processed_transcript	TXLNG2P	HGNC	pseudogene	OTTHUMT00000088781.1		0.00	18	0	A			21758039	+1	tier1		no_errors	ENST00000253320	ensembl	human	known	74_37	rna	36.36	7	4	DEL	0.012	-
UFL1	23376	genome.wustl.edu	37	6	96997405	96997405	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:96997405C>G	ENST00000369278.4	+	14	1704	c.1638C>G	c.(1636-1638)aaC>aaG	p.N546K		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	546					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AAGTTTCAAACCTGTACAATA	0.353																																																	0													65.0	63.0	64.0					6																	96997405		2203	4298	6501	SO:0001583	missense	0			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1638C>G	6.37:g.96997405C>G	ENSP00000358283:p.Asn546Lys		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	pfam_E3_UFM1_ligase_1	p.N546K	ENST00000369278.4	37	c.1638	CCDS5034.1	6	.	.	.	.	.	.	.	.	.	.	C	6.439	0.449158	0.12223	.	.	ENSG00000014123	ENST00000369278	T	0.42131	0.98	5.73	1.42	0.22433	.	0.040366	0.85682	D	0.000000	T	0.15739	0.0379	M	0.73598	2.24	0.39909	D	0.974004	P	0.38922	0.651	B	0.27887	0.084	T	0.22312	-1.0220	10	0.09590	T	0.72	-19.3817	10.2456	0.43339	0.0:0.6279:0.0:0.372	.	546	O94874	UFL1_HUMAN	K	546	ENSP00000358283:N546K	ENSP00000358283:N546K	N	+	3	2	KIAA0776	97104126	0.997000	0.39634	0.841000	0.33234	0.958000	0.62258	0.620000	0.24403	0.341000	0.23771	-0.145000	0.13849	AAC	UFL1	-	NULL	ENSG00000014123		0.353	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	HGNC	protein_coding	OTTHUMT00000041557.1	-	0.00	60	0	C	NM_015323		96997405	+1	tier1	-	no_errors	ENST00000369278	ensembl	human	known	74_37	missense	44.64	29	25	SNP	0.957	G
UGT1A4	54657	genome.wustl.edu	37	2	234627801	234627801	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:234627801G>C	ENST00000373409.3	+	1	378	c.335G>C	c.(334-336)aGa>aCa	p.R112T	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	112					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	AGATATTCTAGAAGTATGGCA	0.453																																					Melanoma(99;1011 1962 13201 26492)												0													168.0	168.0	168.0					2																	234627801		2203	4300	6503	SO:0001583	missense	0			M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.335G>C	2.37:g.234627801G>C	ENSP00000362508:p.Arg112Thr		B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R112T	ENST00000373409.3	37	c.335	CCDS33405.1	2	.	.	.	.	.	.	.	.	.	.	G	1.978	-0.434760	0.04669	.	.	ENSG00000244474	ENST00000373409	T	0.61274	0.12	4.16	-1.53	0.08611	.	.	.	.	.	T	0.32556	0.0833	N	0.08118	0	0.09310	N	1	B;B	0.28470	0.213;0.0	B;B	0.37198	0.243;0.005	T	0.35375	-0.9791	9	0.10636	T	0.68	.	5.2578	0.15555	0.5076:0.1493:0.3432:0.0	.	112;112	B8K288;P22310	.;UD14_HUMAN	T	112	ENSP00000362508:R112T	ENSP00000362508:R112T	R	+	2	0	UGT1A4	234292540	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.764000	0.04735	-0.668000	0.05296	-0.339000	0.08088	AGA	UGT1A4	-	pfam_UDP_glucos_trans	ENSG00000244474		0.453	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A4	HGNC	protein_coding	OTTHUMT00000130984.1	-	0.00	54	0	G	NM_007120		234627801	+1	tier1	-	no_errors	ENST00000373409	ensembl	human	known	74_37	missense	18.75	37	9	SNP	0.000	C
UNC13C	440279	genome.wustl.edu	37	15	54586259	54586259	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:54586259T>G	ENST00000260323.11	+	10	3985	c.3985T>G	c.(3985-3987)Tta>Gta	p.L1329V	UNC13C_ENST00000545554.1_Missense_Mutation_p.L1329V|UNC13C_ENST00000537900.1_Missense_Mutation_p.L1327V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1329					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGGTACAACTTAGGTGATTT	0.348																																																	0													185.0	187.0	187.0					15																	54586259		1841	4077	5918	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3985T>G	15.37:g.54586259T>G	ENSP00000260323:p.Leu1329Val		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L1329V	ENST00000260323.11	37	c.3985	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	T	18.20	3.571407	0.65765	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81078	-1.45;-1.45;-1.45	5.91	-4.09	0.03951	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	D	0.88093	0.6344	M	0.84511	2.7	0.40223	D	0.97776	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.988	D	0.88085	0.2809	10	0.87932	D	0	.	14.0127	0.64507	0.0:0.463:0.0:0.537	.	1329;1329	F5H090;Q8NB66	.;UN13C_HUMAN	V	1329;1329;1327	ENSP00000260323:L1329V;ENSP00000438156:L1329V;ENSP00000442569:L1327V	ENSP00000260323:L1329V	L	+	1	2	UNC13C	52373551	0.980000	0.34600	0.934000	0.37439	0.856000	0.48823	0.714000	0.25808	-0.631000	0.05560	-0.263000	0.10527	TTA	UNC13C	-	superfamily_C2_dom	ENSG00000137766		0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3		0.00	41	0	T	NM_173166		54586259	+1			no_errors	ENST00000260323	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.973	G
UNC79	57578	genome.wustl.edu	37	14	94008860	94008860	+	Silent	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:94008860C>A	ENST00000393151.2	+	14	1573	c.1573C>A	c.(1573-1575)Cgg>Agg	p.R525R	UNC79_ENST00000555664.1_Silent_p.R525R|UNC79_ENST00000553484.1_Silent_p.R525R|UNC79_ENST00000256339.4_Silent_p.R348R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	525					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGCTTGGCCCGGCTGGTGGC	0.493																																																	0													108.0	85.0	93.0					14																	94008860		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1573C>A	14.37:g.94008860C>A			B5MDL6|Q6ZUT7	Silent	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.R525	ENST00000393151.2	37	c.1573		14																																																																																			UNC79	-	NULL	ENSG00000133958		0.493	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	-	0.00	46	0	C	XM_028395		94008860	+1	tier1	-	no_errors	ENST00000553484	ensembl	human	known	74_37	silent	59.38	13	19	SNP	1.000	A
USP24	23358	genome.wustl.edu	37	1	55569688	55569688	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:55569688C>G	ENST00000294383.6	-	42	4885	c.4886G>C	c.(4885-4887)aGt>aCt	p.S1629T	USP24_ENST00000407756.1_Missense_Mutation_p.S1469T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1629					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATTCGCTGTACTACACCTAGA	0.333																																																	0													43.0	40.0	41.0					1																	55569688		1865	4094	5959	SO:0001583	missense	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4886G>C	1.37:g.55569688C>G	ENSP00000294383:p.Ser1629Thr		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.S1469T	ENST00000294383.6	37	c.4406	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684279	0.47991	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02345	4.33;4.34	6.05	6.05	0.98169	.	0.084787	0.85682	N	0.000000	T	0.03915	0.0110	L	0.31926	0.97	0.40034	D	0.975569	B	0.15141	0.012	B	0.14023	0.01	T	0.54450	-0.8292	10	0.28530	T	0.3	.	18.7818	0.91937	0.0:1.0:0.0:0.0	.	1469	B7WPF4	.	T	1629;1469	ENSP00000294383:S1629T;ENSP00000385700:S1469T	ENSP00000294383:S1629T	S	-	2	0	USP24	55342276	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.682000	0.68182	2.878000	0.98634	0.650000	0.86243	AGT	USP24	-	superfamily_ARM-type_fold	ENSG00000162402		0.333	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2		0.00	18	0	C			55569688	-1			no_errors	ENST00000407756	ensembl	human	known	74_37	missense	28.57	10	4	SNP	1.000	G
USH2A	7399	genome.wustl.edu	37	1	216373262	216373262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:216373262G>T	ENST00000307340.3	-	17	3904	c.3518C>A	c.(3517-3519)tCa>tAa	p.S1173*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.S1173*|USH2A_ENST00000366943.2_Nonsense_Mutation_p.S1173*|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATTGATTTGAGAGTGTTGT	0.448										HNSCC(13;0.011)																																							0													109.0	112.0	111.0					1																	216373262		2203	4300	6503	SO:0001587	stop_gained	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3518C>A	1.37:g.216373262G>T	ENSP00000305941:p.Ser1173*		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S1173*	ENST00000307340.3	37	c.3518	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.966764	0.99496	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	6.02	4.93	0.64822	.	0.200050	0.24417	N	0.038719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1759	0.81851	0.0734:0.0:0.9266:0.0	.	.	.	.	X	1173	.	ENSP00000305941:S1173X	S	-	2	0	USH2A	214439885	0.863000	0.29885	0.534000	0.28014	0.713000	0.41058	3.117000	0.50407	2.865000	0.98341	0.655000	0.94253	TCA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0.00	44	0	G	NM_007123		216373262	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	0.818	T
URB2	9816	genome.wustl.edu	37	1	229771578	229771578	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:229771578G>A	ENST00000258243.2	+	4	1354	c.1218G>A	c.(1216-1218)ccG>ccA	p.P406P		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	406						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CACCCATACCGGCCTGGTTCC	0.537																																																	0													67.0	70.0	69.0					1																	229771578		2203	4300	6503	SO:0001819	synonymous_variant	0			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1218G>A	1.37:g.229771578G>A			Q5VYC9	Silent	SNP	pfam_Urb2/Npa2_C	p.P406	ENST00000258243.2	37	c.1218	CCDS31052.1	1																																																																																			URB2	-	NULL	ENSG00000135763		0.537	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	-	0.00	30	0	G	NM_014777		229771578	+1	tier1	-	no_errors	ENST00000258243	ensembl	human	known	74_37	silent	28.57	25	10	SNP	0.016	A
VAPB	9217	genome.wustl.edu	37	20	57020741	57020742	+	3'UTR	DEL	TG	TG	-	rs138225455|rs146547877|rs200528716		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:57020741_57020742delTG	ENST00000475243.1	+	0	2520_2521				VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GATTTAACTCtgtgtgtgtgtg	0.351																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.*1451TG>-	20.37:g.57020751_57020752delTG			A2A2F2|O95293|Q9P0H0	RNA	DEL	-	NULL	ENST00000475243.1	37	NULL	CCDS33498.1	20																																																																																			VAPB	-	-	ENSG00000124164		0.351	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAPB	HGNC	protein_coding	OTTHUMT00000079875.2		0.00	18	0	TG			57020742	+1	tier1		no_errors	ENST00000265619	ensembl	human	known	74_37	rna	16.67	20	4	DEL	0.001:0.001	-
VCAN	1462	genome.wustl.edu	37	5	82832776	82832776	+	Intron	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:82832776A>G	ENST00000265077.3	+	8	4568				VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican						carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTTCTGTCATACACTGCCAAA	0.348																																																	0													28.0	29.0	29.0					5																	82832776		2200	4296	6496	SO:0001627	intron_variant	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4004-50A>G	5.37:g.82832776A>G			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	RNA	SNP	-	NULL	ENST00000265077.3	37	NULL	CCDS4060.1	5																																																																																			VCAN	-	-	ENSG00000038427		0.348	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0.00	46	0	A	NM_004385		82832776	+1	tier1	-	no_errors	ENST00000513016	ensembl	human	known	74_37	rna	11.43	31	4	SNP	0.005	G
VEGFC	7424	genome.wustl.edu	37	4	177608420	177608420	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:177608420C>T	ENST00000280193.2	-	6	1481	c.1066G>A	c.(1066-1068)Gga>Aga	p.G356R	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA|VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	356	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GCACATTTTCCAGGATTTAGG	0.438																																																	0													254.0	228.0	236.0					4																	177608420		1843	4094	5937	SO:0001583	missense	0			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1066G>A	4.37:g.177608420C>T	ENSP00000280193:p.Gly356Arg		B2R9Q8	Missense_Mutation	SNP	pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.G356R	ENST00000280193.2	37	c.1066	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680386	0.29872	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.62	3.85	0.44370	.	0.430212	0.24735	N	0.036037	T	0.34571	0.0902	L	0.36672	1.1	0.30781	N	0.741941	B	0.31125	0.309	B	0.29267	0.1	T	0.33137	-0.9880	9	0.27785	T	0.31	-3.1576	10.0588	0.42261	0.1387:0.7906:0.0:0.0707	.	356	P49767	VEGFC_HUMAN	R	356	.	ENSP00000280193:G356R	G	-	1	0	VEGFC	177845414	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	2.879000	0.48522	1.322000	0.45245	0.655000	0.94253	GGA	VEGFC	-	NULL	ENSG00000150630		0.438	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	-	0.00	89	0	C	NM_005429		177608420	-1	tier1	-	no_errors	ENST00000280193	ensembl	human	known	74_37	missense	71.23	21	52	SNP	0.987	T
VRK2	7444	genome.wustl.edu	37	2	58275980	58275980	+	Missense_Mutation	SNP	G	G	T	rs149155455		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:58275980G>T	ENST00000435505.2	+	5	759	c.14G>T	c.(13-15)aGa>aTa	p.R5I	VRK2_ENST00000340157.4_Missense_Mutation_p.R5I|VRK2_ENST00000412104.2_Missense_Mutation_p.R5I|VRK2_ENST00000440705.2_Intron|VRK2_ENST00000417641.2_Missense_Mutation_p.R5I			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	5					cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CCACCAAAAAGAAATGAAAAA	0.388																																																	0													68.0	72.0	70.0					2																	58275980		2202	4300	6502	SO:0001583	missense	0			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.14G>T	2.37:g.58275980G>T	ENSP00000408002:p.Arg5Ile		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	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,pfscan_Prot_kinase_dom	p.R5I	ENST00000435505.2	37	c.14	CCDS1859.1	2	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574884	0.65878	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000428021	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.96	1.77	0.24775	.	0.358133	0.29002	N	0.013443	T	0.48095	0.1481	L	0.48642	1.525	0.40587	D	0.981456	P;P;D	0.54047	0.874;0.941;0.964	P;P;P	0.51806	0.667;0.648;0.68	T	0.48502	-0.9030	10	0.72032	D	0.01	-13.2121	9.4853	0.38926	0.3876:0.0:0.6124:0.0	.	5;5;5	Q86Y07-2;Q86Y07-5;Q86Y07	.;.;VRK2_HUMAN	I	5;5;5;5;5;5;10	ENSP00000408002:R5I;ENSP00000402375:R5I;ENSP00000404156:R5I;ENSP00000342381:R5I;ENSP00000404961:R10I	ENSP00000342381:R5I	R	+	2	0	VRK2	58129484	0.879000	0.30193	0.996000	0.52242	0.997000	0.91878	0.628000	0.24522	0.291000	0.22468	0.655000	0.94253	AGA	VRK2	-	NULL	ENSG00000028116		0.388	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VRK2	HGNC	protein_coding	OTTHUMT00000325304.2		0.00	31	0	G	NM_006296		58275980	+1			no_errors	ENST00000340157	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.692	T
VWC2	375567	genome.wustl.edu	37	7	49815551	49815551	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:49815551delT	ENST00000340652.4	+	2	1076	c.520delT	c.(520-522)tcgfs	p.S174fs		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	174	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GCCGGGCCCCTCGGCCTGCCC	0.716																																																	0													9.0	10.0	10.0					7																	49815551		2150	4214	6364	SO:0001589	frameshift_variant	0			AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.520delT	7.37:g.49815551delT	ENSP00000341819:p.Ser174fs		Q6UXE2	Frame_Shift_Del	DEL	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.S174fs	ENST00000340652.4	37	c.520	CCDS5508.1	7																																																																																			VWC2	-	smart_VWF_C	ENSG00000188730		0.716	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWC2	HGNC	protein_coding	OTTHUMT00000251375.2		0.00	8	0	T	NM_198570		49815551	+1			no_errors	ENST00000340652	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	1.000	0
WDFY3	23001	genome.wustl.edu	37	4	85696071	85696071	+	Silent	SNP	A	A	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:85696071A>C	ENST00000295888.4	-	29	5063	c.4656T>G	c.(4654-4656)acT>acG	p.T1552T	WDFY3_ENST00000322366.6_Silent_p.T1552T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1552					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TATCTCGAAGAGTCAGGAGCA	0.393																																																	0													128.0	136.0	133.0					4																	85696071		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4656T>G	4.37:g.85696071A>C			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1552	ENST00000295888.4	37	c.4656	CCDS3609.1	4																																																																																			WDFY3	-	NULL	ENSG00000163625		0.393	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0.00	57	0	A	NM_014991		85696071	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	silent	58.33	15	21	SNP	0.978	C
WDR66	144406	genome.wustl.edu	37	12	122359577	122359577	+	Silent	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:122359577A>G	ENST00000288912.4	+	2	1220	c.366A>G	c.(364-366)tcA>tcG	p.S122S	WDR66_ENST00000397454.2_Silent_p.S122S	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	122							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAATCACATCAGGAATTTTCC	0.408																																					Esophageal Squamous(85;849 1794 49757 52143)												0													104.0	98.0	100.0					12																	122359577		1915	4139	6054	SO:0001819	synonymous_variant	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.366A>G	12.37:g.122359577A>G			C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S122	ENST00000288912.4	37	c.366	CCDS41853.1	12																																																																																			WDR66	-	NULL	ENSG00000158023		0.408	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	-	0.00	46	0	A	NM_144668		122359577	+1	tier1	-	no_errors	ENST00000288912	ensembl	human	known	74_37	silent	12.50	21	3	SNP	0.000	G
WDR7	23335	genome.wustl.edu	37	18	54358513	54358513	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:54358513G>T	ENST00000254442.3	+	8	995	c.784G>T	c.(784-786)Ggg>Tgg	p.G262W	WDR7_ENST00000357574.3_Missense_Mutation_p.G262W|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	262					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GACATGGACCGGGGGGGACTT	0.418																																																	0													93.0	101.0	98.0					18																	54358513		2203	4300	6503	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.784G>T	18.37:g.54358513G>T	ENSP00000254442:p.Gly262Trp		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G262W	ENST00000254442.3	37	c.784	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635009	0.87760	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.55760	0.5;0.5	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.76069	-0.3094	10	0.72032	D	0.01	.	19.2552	0.93943	0.0:0.0:1.0:0.0	.	262;262	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	W	262	ENSP00000254442:G262W;ENSP00000350187:G262W	ENSP00000254442:G262W	G	+	1	0	WDR7	52509511	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.663000	0.98605	2.729000	0.93468	0.460000	0.39030	GGG	WDR7	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000091157		0.418	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1		0.00	54	0	G			54358513	+1			no_errors	ENST00000254442	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T
WDR74	54663	genome.wustl.edu	37	11	62606983	62606983	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:62606983C>T	ENST00000525239.1	-	2	597	c.60G>A	c.(58-60)ttG>ttA	p.L20L	RNU2-2P_ENST00000410396.1_RNA|WDR74_ENST00000278856.4_Silent_p.L20L|WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000529106.1_Silent_p.L20L|WDR74_ENST00000311713.7_Silent_p.L20L|WDR74_ENST00000525752.1_Intron			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	20					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						ACCCACCTTTCAAGATCCCAG	0.632																																																	0													39.0	45.0	43.0					11																	62606983		2086	4226	6312	SO:0001819	synonymous_variant	0				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.60G>A	11.37:g.62606983C>T			A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L20	ENST00000525239.1	37	c.60	CCDS44630.1	11	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576438	0.28092	.	.	ENSG00000133316	ENST00000535048	.	.	.	4.28	1.21	0.21127	.	.	.	.	.	T	0.51958	0.1705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40021	-0.9585	4	.	.	.	-8.5329	5.8248	0.18548	0.0:0.6468:0.161:0.1922	.	.	.	.	K	12	.	.	E	-	1	0	WDR74	62363559	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.056000	0.30480	0.415000	0.25817	0.655000	0.94253	GAA	WDR74	-	NULL	ENSG00000133316		0.632	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR74	HGNC	protein_coding	OTTHUMT00000395678.1	-	0.00	64	0	C	NM_018093		62606983	-1	tier1	-	no_errors	ENST00000278856	ensembl	human	known	74_37	silent	31.03	40	18	SNP	1.000	T
WSB1	26118	genome.wustl.edu	37	17	25634774	25634774	+	Intron	SNP	T	T	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:25634774T>A	ENST00000262394.2	+	5	1027				WSB1_ENST00000579733.1_Missense_Mutation_p.V93E|WSB1_ENST00000583193.1_Missense_Mutation_p.V49E|WSB1_ENST00000581185.1_3'UTR|WSB1_ENST00000427287.2_Missense_Mutation_p.V208E|WSB1_ENST00000348811.2_Intron	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCACAGGTGGTGGCAGCAATA	0.453																																																	0																																										SO:0001627	intron_variant	0			AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.711+866T>A	17.37:g.25634774T>A			Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V208E	ENST00000262394.2	37	c.623	CCDS11220.1	17	.	.	.	.	.	.	.	.	.	.	T	9.092	1.001934	0.19121	.	.	ENSG00000109046	ENST00000427287	T	0.61158	0.13	5.25	5.25	0.73442	.	.	.	.	.	T	0.57607	0.2065	.	.	.	0.80722	D	1	P;P	0.37914	0.611;0.557	B;B	0.42882	0.401;0.279	T	0.57797	-0.7749	8	0.38643	T	0.18	.	14.6445	0.68751	0.0:0.0:0.0:1.0	.	208;239	B4DGB8;Q9Y6I7-3	.;.	E	208	ENSP00000416112:V208E	ENSP00000416112:V208E	V	+	2	0	WSB1	22658901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.358000	0.59442	2.116000	0.64780	0.533000	0.62120	GTG	WSB1	-	smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109046		0.453	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSB1	HGNC	protein_coding	OTTHUMT00000255391.4	-	0.00	43	0	T	NM_015626		25634774	+1	tier1	-	no_errors	ENST00000427287	ensembl	human	putative	74_37	missense	10.26	35	4	SNP	1.000	A
XIST	7503	genome.wustl.edu	37	X	73071845	73071846	+	lincRNA	INS	-	-	A	rs200290800		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:73071845_73071846insA	ENST00000429829.1	-	0	742_743					NR_001564.2				X inactive specific transcript (non-protein coding)																		GATGGGCGATGAAAAAAAAAAA	0.411																																																	0																																												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.73071856_73071856dupA				RNA	INS	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.411	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1		0.00	54	0	-	NR_001564		73071846	-1	tier1		no_errors	ENST00000429829	ensembl	human	known	74_37	rna	10.34	52	6	INS	0.000:0.001	A
ZBED1	9189	genome.wustl.edu	37	X	2406811	2406811	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:2406811G>A	ENST00000381223.4	-	2	2153	c.1950C>T	c.(1948-1950)aaC>aaT	p.N650N	ZBED1_ENST00000381218.3_Silent_p.N650N|ZBED1_ENST00000515319.1_Intron|ZBED1_ENST00000381222.2_Silent_p.N650N|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	650					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				CACTCCGGGCGTTCTCATACA	0.682													G|||	0	0.0	0.0	0.0	5008	,	,		15092	0.0		0.0	False		,,,				2504	0.0																0													103.0	109.0	107.0					X																	2406811		2203	4296	6499	SO:0001819	synonymous_variant	0			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1950C>T	X.37:g.2406811G>A			Q96BY4	Silent	SNP	pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.N650	ENST00000381223.4	37	c.1950	CCDS14118.1	X																																																																																			ZBED1	-	pfam_HATC_dom_C,superfamily_RNaseH-like_dom	ENSG00000214717		0.682	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3	-	0.00	120	0	G	NM_004729		2406811	-1	tier1	-	no_errors	ENST00000381218	ensembl	human	known	74_37	silent	75.32	19	58	SNP	0.611	A
ZC3H7A	29066	genome.wustl.edu	37	16	11855856	11855856	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:11855856A>G	ENST00000396516.2	-	17	2320	c.2123T>C	c.(2122-2124)aTa>aCa	p.I708T	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.I708T|ZC3H7A_ENST00000575984.1_5'Flank			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	708						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CACAAACTTTATCTTCATATT	0.328																																																	0													97.0	86.0	90.0					16																	11855856		2196	4300	6496	SO:0001583	missense	0			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2123T>C	16.37:g.11855856A>G	ENSP00000379773:p.Ile708Thr		D3DUG5|Q9NPE9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.I708T	ENST00000396516.2	37	c.2123	CCDS10550.1	16	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688551	0.68271	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.11277	2.79;2.79	5.52	5.52	0.82312	.	0.080826	0.85682	D	0.000000	T	0.16128	0.0388	L	0.44542	1.39	0.80722	D	1	B;B	0.31705	0.336;0.227	B;B	0.40565	0.333;0.179	T	0.02352	-1.1172	10	0.87932	D	0	.	14.8175	0.70045	1.0:0.0:0.0:0.0	.	429;708	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	T	708	ENSP00000347999:I708T;ENSP00000379773:I708T	ENSP00000347999:I708T	I	-	2	0	ZC3H7A	11763357	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.108000	0.94275	2.089000	0.63090	0.482000	0.46254	ATA	ZC3H7A	-	NULL	ENSG00000122299		0.328	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	-	0.00	65	0	A	NM_014153		11855856	-1	tier1	-	no_errors	ENST00000355758	ensembl	human	known	74_37	missense	54.55	15	18	SNP	1.000	G
ZCCHC6	79670	genome.wustl.edu	37	9	88967671	88967671	+	Silent	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:88967671G>A	ENST00000375963.3	-	2	616	c.444C>T	c.(442-444)tgC>tgT	p.C148C	ZCCHC6_ENST00000375947.1_5'Flank|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Silent_p.C148C|ZCCHC6_ENST00000375961.2_Silent_p.C148C	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	148					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTACAGTTCTGCAGCCTCTTG	0.403																																																	0													194.0	192.0	193.0					9																	88967671		2203	4300	6503	SO:0001819	synonymous_variant	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.444C>T	9.37:g.88967671G>A			Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.C148	ENST00000375963.3	37	c.444	CCDS35057.1	9																																																																																			ZCCHC6	-	NULL	ENSG00000083223		0.403	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1		0.00	53	0	G	NM_024617		88967671	-1			no_errors	ENST00000375963	ensembl	human	known	74_37	silent	7.32	38	3	SNP	1.000	A
ZDHHC5	25921	genome.wustl.edu	37	11	57464282	57464282	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:57464282G>T	ENST00000287169.3	+	10	2421	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.K300N	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	353					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCATGTACAAGTATCGGCCGG	0.512																																																	0													97.0	86.0	90.0					11																	57464282		2201	4296	6497	SO:0001583	missense	0			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1059G>T	11.37:g.57464282G>T	ENSP00000287169:p.Lys353Asn		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.K353N	ENST00000287169.3	37	c.1059	CCDS7965.1	11	.	.	.	.	.	.	.	.	.	.	g	23.5	4.421265	0.83559	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000529447	T;T;D	0.87334	-0.05;0.94;-2.24	5.47	2.48	0.30137	.	0.100642	0.64402	D	0.000002	D	0.84492	0.5484	L	0.56199	1.76	0.50813	D	0.999898	P	0.46512	0.879	P	0.48089	0.566	T	0.81309	-0.0991	10	0.48119	T	0.1	-19.037	5.7695	0.18245	0.2138:0.0:0.6493:0.1369	.	353	Q9C0B5	ZDHC5_HUMAN	N	300;353;187	ENSP00000432202:K300N;ENSP00000287169:K353N;ENSP00000435722:K187N	ENSP00000287169:K353N	K	+	3	2	ZDHHC5	57220858	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.768000	0.38511	0.844000	0.35094	0.645000	0.84053	AAG	ZDHHC5	-	NULL	ENSG00000156599		0.512	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC5	HGNC	protein_coding	OTTHUMT00000393694.1	-	0.00	41	0	G	NM_015457		57464282	+1	tier1	-	no_errors	ENST00000287169	ensembl	human	known	74_37	missense	48.15	14	13	SNP	1.000	T
ZMAT1	84460	genome.wustl.edu	37	X	101152886	101152886	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:101152886C>T	ENST00000372782.3	-	5	507	c.460G>A	c.(460-462)Gag>Aag	p.E154K	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.E154K	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	154						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCATGTTCCTCCATTAATTGC	0.408																																																	0													141.0	107.0	118.0					X																	101152886		2203	4300	6503	SO:0001583	missense	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.460G>A	X.37:g.101152886C>T	ENSP00000361868:p.Glu154Lys		Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.E154K	ENST00000372782.3	37	c.460	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	C	1.358	-0.589437	0.03799	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.40756	1.02;1.02	4.59	2.8	0.32819	.	0.201474	0.24611	N	0.037060	T	0.34919	0.0914	M	0.65498	2.005	0.09310	N	0.999991	B	0.21071	0.051	B	0.16722	0.016	T	0.29549	-1.0008	10	0.11794	T	0.64	-2.612	8.0305	0.30461	0.0:0.7931:0.0:0.2069	.	154	Q5H9K5	ZMAT1_HUMAN	K	154	ENSP00000361868:E154K;ENSP00000437529:E154K	ENSP00000361868:E154K	E	-	1	0	ZMAT1	101039542	0.007000	0.16637	0.001000	0.08648	0.130000	0.20726	0.919000	0.28692	0.498000	0.27948	0.502000	0.49764	GAG	ZMAT1	-	NULL	ENSG00000166432		0.408	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	-	0.00	35	0	C			101152886	-1	tier1	-	no_errors	ENST00000372782	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.003	T
ZMYM2	7750	genome.wustl.edu	37	13	20633622	20633622	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:20633622A>T	ENST00000382874.2	+	17	2849	c.2659A>T	c.(2659-2661)Atc>Ttc	p.I887F	ZMYM2_ENST00000382883.3_3'UTR|ZMYM2_ENST00000382869.3_Missense_Mutation_p.I887F|ZMYM2_ENST00000382871.2_Missense_Mutation_p.I887F	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	887					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TCCAGTGCCTATCCCTGTGCC	0.378																																																	0													237.0	208.0	217.0					13																	20633622		1923	4137	6060	SO:0001583	missense	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2659A>T	13.37:g.20633622A>T	ENSP00000372327:p.Ile887Phe		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.I887F	ENST00000382874.2	37	c.2659	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	A	18.43	3.623034	0.66901	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.27890	1.64	5.32	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	M	0.73598	2.24	0.80722	D	1	B	0.32968	0.392	B	0.34346	0.18	T	0.19386	-1.0307	10	0.62326	D	0.03	-4.8301	11.0736	0.48019	0.9271:0.0:0.0729:0.0	.	887	Q9UBW7	ZMYM2_HUMAN	F	887;887;885;885;265	ENSP00000372322:I887F	ENSP00000372322:I887F	I	+	1	0	ZMYM2	19531622	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	3.164000	0.50770	0.874000	0.35823	0.460000	0.39030	ATC	ZMYM2	-	NULL	ENSG00000121741		0.378	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	-	0.00	83	0	A	NM_003453		20633622	+1	tier1	-	no_errors	ENST00000382869	ensembl	human	known	74_37	missense	66.25	27	53	SNP	1.000	T
ZNF335	63925	genome.wustl.edu	37	20	44592682	44592682	+	Intron	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:44592682G>A	ENST00000322927.2	-	8	1203				ZNF335_ENST00000426788.1_Intron|ZNF335_ENST00000494955.1_5'Flank	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335						brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CAGGACAGACGTGGACAAGTG	0.572																																																	0																																										SO:0001627	intron_variant	0			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1103-53C>T	20.37:g.44592682G>A			B4DLG7|Q548D0|Q9H684	RNA	SNP	-	NULL	ENST00000322927.2	37	NULL	CCDS13389.1	20																																																																																			ZNF335	-	-	ENSG00000198026		0.572	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	-	0.00	42	0	G	NM_022095		44592682	-1	tier1	-	no_errors	ENST00000475002	ensembl	human	known	74_37	rna	43.59	22	17	SNP	0.000	A
ZNF436	80818	genome.wustl.edu	37	1	23689057	23689057	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:23689057G>A	ENST00000314011.4	-	4	954	c.818C>T	c.(817-819)aCg>aTg	p.T273M	ZNF436_ENST00000374608.3_Missense_Mutation_p.T273M	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTTCTCACCCGTGTGGGTCCT	0.532																																																	0													105.0	109.0	107.0					1																	23689057		2203	4300	6503	SO:0001583	missense	0			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.818C>T	1.37:g.23689057G>A	ENSP00000313582:p.Thr273Met		Q658I9	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.T273M	ENST00000314011.4	37	c.818	CCDS233.1	1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471717	0.63737	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.26373	1.74;1.74;1.74	5.79	5.79	0.91817	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.53514	0.1801	M	0.74467	2.265	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	T	0.54503	-0.8284	10	0.87932	D	0	-19.2469	17.535	0.87827	0.0:0.0:1.0:0.0	.	273	Q9C0F3	ZN436_HUMAN	M	273	ENSP00000313582:T273M;ENSP00000363737:T273M;ENSP00000363736:T273M	ENSP00000313582:T273M	T	-	2	0	ZNF436	23561644	1.000000	0.71417	0.964000	0.40570	0.616000	0.37450	7.992000	0.88273	2.739000	0.93911	0.655000	0.94253	ACG	ZNF436	-	pfscan_Znf_C2H2	ENSG00000125945		0.532	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF436	HGNC	protein_coding	OTTHUMT00000008908.1	-	0.00	40	0	G	NM_030634		23689057	-1	tier1	-	no_errors	ENST00000314011	ensembl	human	known	74_37	missense	38.10	13	8	SNP	1.000	A
ZNF474	133923	genome.wustl.edu	37	5	121487982	121487982	+	Silent	SNP	C	C	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:121487982C>T	ENST00000296600.4	+	2	680	c.297C>T	c.(295-297)atC>atT	p.I99I	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA|CTC-441N14.1_ENST00000505209.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	99							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		TATGCTATATCTGTGGCCGAG	0.488																																																	0													75.0	80.0	78.0					5																	121487982		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.297C>T	5.37:g.121487982C>T			A8K4M0|Q96M07	Silent	SNP	pfscan_Znf_C2H2	p.I99	ENST00000296600.4	37	c.297	CCDS4130.1	5																																																																																			ZNF474	-	NULL	ENSG00000164185		0.488	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF474	HGNC	protein_coding	OTTHUMT00000250883.2	-	0.00	26	0	C	NM_207317		121487982	+1	tier1	-	no_errors	ENST00000296600	ensembl	human	known	74_37	silent	20.00	12	3	SNP	1.000	T
ZNF492	57615	genome.wustl.edu	37	19	22847875	22847875	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:22847875G>C	ENST00000456783.2	+	4	1648	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CTACACATAAGATGATTCATA	0.378																																																	0													33.0	47.0	43.0					19																	22847875		2047	4256	6303	SO:0001583	missense	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1404G>C	19.37:g.22847875G>C	ENSP00000413660:p.Lys468Asn		Q08EI7|Q08EI8	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K468N	ENST00000456783.2	37	c.1404	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	8.998	0.979502	0.18812	.	.	ENSG00000229676	ENST00000456783	T	0.07567	3.18	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10594	0.0259	L	0.54323	1.7	0.09310	N	1	B	0.26512	0.151	B	0.36766	0.232	T	0.38134	-0.9675	9	0.66056	D	0.02	.	4.1816	0.10378	0.0:0.0:0.6018:0.3982	.	468	Q9P255	ZN492_HUMAN	N	468	ENSP00000413660:K468N	ENSP00000413660:K468N	K	+	3	2	ZNF492	22639715	0.000000	0.05858	0.025000	0.17156	0.025000	0.11179	-0.211000	0.09332	0.269000	0.21961	0.274000	0.19336	AAG	ZNF492	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000229676		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1		0.00	82	0	G	NM_020855		22847875	+1			no_errors	ENST00000456783	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.003	C
PRAP1	118471	genome.wustl.edu	37	10	135165925	135165925	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:135165925A>G	ENST00000433452.2	+	5	709	c.437A>G	c.(436-438)cAc>cGc	p.H146R	PRAP1_ENST00000463201.1_3'UTR|FUOM_ENST00000465384.1_5'Flank|RP11-122K13.7_ENST00000452591.1_RNA|PRAP1_ENST00000423766.1_Missense_Mutation_p.H147R|ZNF511_ENST00000368554.4_Missense_Mutation_p.H305R|PRAP1_ENST00000458230.1_Missense_Mutation_p.H137R			Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1	146						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		GACCAAGACCACATCTACCAC	0.672																																																	0													81.0	77.0	78.0					10																	135165925		2203	4300	6503	SO:0001583	missense	0			AF421885	CCDS7679.1	10q26.3	2012-10-01			ENSG00000165828	ENSG00000165828			23304	protein-coding gene	gene with protein product		609776				14583459, 20674898	Standard	NM_001145201		Approved	UPA		Q96NZ9	OTTHUMG00000019312	ENST00000433452.2:c.437A>G	10.37:g.135165925A>G	ENSP00000416126:p.His146Arg		B7ZL57|B7ZL58|E9KL31|Q5VWY4|Q7Z4X5|Q8IWR3|Q8NCS2	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.H305R	ENST00000433452.2	37	c.914	CCDS7679.1	10	.	.	.	.	.	.	.	.	.	.	A	13.26	2.184942	0.38609	.	.	ENSG00000198546;ENSG00000165828;ENSG00000165828;ENSG00000165828	ENST00000368554;ENST00000433452;ENST00000423766;ENST00000458230	T;T;T;T	0.52295	0.67;1.35;1.35;1.37	3.37	3.37	0.38596	.	0.000000	0.38326	N	0.001722	T	0.59224	0.2178	L	0.54323	1.7	0.23769	N	0.996894	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	T	0.46512	-0.9186	10	0.87932	D	0	-26.9187	8.4934	0.33115	1.0:0.0:0.0:0.0	.	137;147;146	A6XND8;Q96NZ9-3;Q96NZ9	.;.;PRAP1_HUMAN	R	305;146;147;137	ENSP00000357542:H305R;ENSP00000416126:H146R;ENSP00000409495:H147R;ENSP00000402700:H137R	ENSP00000409495:H147R	H	+	2	0	ZNF511;PRAP1	135015915	0.569000	0.26643	0.991000	0.47740	0.062000	0.15995	1.189000	0.32114	1.785000	0.52413	0.523000	0.50628	CAC	ZNF511	-	NULL	ENSG00000198546		0.672	PRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051132.1	-	0.00	34	0	A	NM_145202		135165925	+1	tier1	-	no_errors	ENST00000368554	ensembl	human	known	74_37	missense	56.25	6	9	SNP	1.000	G
ZNF521	25925	genome.wustl.edu	37	18	22806877	22806877	+	Silent	SNP	C	C	A			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:22806877C>A	ENST00000361524.3	-	4	1153	c.1005G>T	c.(1003-1005)ccG>ccT	p.P335P	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.P115P|ZNF521_ENST00000538137.2_Silent_p.P335P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.P335P(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCATGACTCCGGTTGCTGGT	0.527			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - coding silent(1)	large_intestine(1)											103.0	92.0	95.0					18																	22806877		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1005G>T	18.37:g.22806877C>A			A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P335	ENST00000361524.3	37	c.1005	CCDS32806.1	18																																																																																			ZNF521	-	pfscan_Znf_C2H2	ENSG00000198795		0.527	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2		0.00	38	0	C	NM_015461		22806877	-1			no_errors	ENST00000361524	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.000	A
ZNF582	147948	genome.wustl.edu	37	19	56896146	56896146	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:56896146G>T	ENST00000301310.4	-	5	798	c.640C>A	c.(640-642)Cta>Ata	p.L214I	ZNF582_ENST00000586929.1_Missense_Mutation_p.L214I|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGTTGAATTAGTCGTGAGCCA	0.343																																					Ovarian(183;1887 2032 4349 30507 51343)												0													67.0	69.0	69.0					19																	56896146		2203	4300	6503	SO:0001583	missense	0			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.640C>A	19.37:g.56896146G>T	ENSP00000301310:p.Leu214Ile		B4DQZ9|B7Z9R3|Q6PJT6	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.L214I	ENST00000301310.4	37	c.640	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463055	0.43736	.	.	ENSG00000018869	ENST00000301310	T	0.14640	2.49	4.78	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28895	N	0.013791	T	0.22205	0.0535	M	0.83692	2.655	0.09310	N	1	P;P	0.39520	0.676;0.63	B;B	0.43251	0.34;0.413	T	0.09207	-1.0685	10	0.87932	D	0	.	9.1667	0.37056	0.2443:0.0:0.7557:0.0	.	214;245	Q96NG8;B4DQZ9	ZN582_HUMAN;.	I	214	ENSP00000301310:L214I	ENSP00000301310:L214I	L	-	1	2	ZNF582	61587958	0.864000	0.29904	0.002000	0.10522	0.002000	0.02628	1.180000	0.32005	0.328000	0.23435	-0.218000	0.12543	CTA	ZNF582	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000018869		0.343	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2		0.00	61	0	G	NM_144690		56896146	-1			no_errors	ENST00000301310	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.009	T
ZNF584	201514	genome.wustl.edu	37	19	58928627	58928627	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:58928627G>T	ENST00000306910.4	+	4	1265	c.742G>T	c.(742-744)Ggt>Tgt	p.G248C	CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000593920.1_Missense_Mutation_p.G203C|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		TAGTGACTGTGGTAAAACCTT	0.453																																																	0													86.0	76.0	79.0					19																	58928627		2203	4300	6503	SO:0001583	missense	0			AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.742G>T	19.37:g.58928627G>T	ENSP00000306756:p.Gly248Cys		A8K203	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.G248C	ENST00000306910.4	37	c.742	CCDS12979.1	19	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121155	0.56613	.	.	ENSG00000171574	ENST00000306910;ENST00000354635	T	0.66638	-0.22	3.78	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81983	0.4938	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81464	-0.0921	9	0.87932	D	0	.	6.5454	0.22402	0.1129:0.1869:0.7002:0.0	.	248	Q8IVC4	ZN584_HUMAN	C	248;107	ENSP00000306756:G248C	ENSP00000306756:G248C	G	+	1	0	ZNF584	63620439	1.000000	0.71417	0.992000	0.48379	0.913000	0.54294	2.643000	0.46604	0.936000	0.37367	0.555000	0.69702	GGT	ZNF584	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171574		0.453	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF584	HGNC	protein_coding	OTTHUMT00000467022.1	-	0.00	50	0	G	NM_173548		58928627	+1	tier1	-	no_errors	ENST00000306910	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T
