#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
AACS	65985	genome.wustl.edu	37	12	125591780	125591780	+	Missense_Mutation	SNP	C	C	G	rs371263015		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:125591780C>G	ENST00000316519.6	+	8	1087	c.881C>G	c.(880-882)aCg>aGg	p.T294R	AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Missense_Mutation_p.T294R	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	294					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCGGGCACCACGGGCGCACCC	0.622																																																	0													78.0	70.0	73.0					12																	125591780		2203	4300	6503	SO:0001583	missense	0			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.881C>G	12.37:g.125591780C>G	ENSP00000324842:p.Thr294Arg		Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	p.T294R	ENST00000316519.6	37	c.881	CCDS9263.1	12	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727732	0.48833	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537564;ENST00000441247	T;T;T;D	0.81739	0.6;0.6;0.6;-1.53	5.45	4.56	0.56223	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.93854	3.465	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.73380	0.972;0.98	D	0.93548	0.6884	10	0.87932	D	0	.	14.1173	0.65161	0.0:0.9267:0.0:0.0732	.	294;294	Q86V21-2;Q86V21	.;AACS_HUMAN	R	294;294;150;75;113	ENSP00000324842:T294R;ENSP00000261686:T294R;ENSP00000442956:T75R;ENSP00000392967:T113R	ENSP00000261686:T294R	T	+	2	0	AACS	124157733	1.000000	0.71417	0.170000	0.22879	0.012000	0.07955	5.372000	0.66156	1.304000	0.44892	-0.215000	0.12644	ACG	AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	ENSG00000081760		0.622	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	-	0.00	44	0	C	NM_023928		125591780	+1	tier1	-	no_errors	ENST00000316519	ensembl	human	known	74_37	missense	48.57	18	17	SNP	0.994	G
ACAA2	10449	genome.wustl.edu	37	18	47311700	47311700	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:47311700G>T	ENST00000285093.10	-	9	1451	c.976C>A	c.(976-978)Cag>Aag	p.Q326K	ACAA2_ENST00000589432.1_Missense_Mutation_p.Q271K|ACAA2_ENST00000587994.1_Missense_Mutation_p.Q323K	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	326					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						GCCAAGTACTGGGGAGCAAAA	0.403																																																	0													53.0	48.0	50.0					18																	47311700		2203	4300	6503	SO:0001583	missense	0			D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"""mitochondrial 3-oxoacyl-Coenzyme A thiolase"""	604770	"""acetyl-Coenzyme A acyltransferase 2"""			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.976C>A	18.37:g.47311700G>T	ENSP00000285093:p.Gln326Lys		Q9BUT6	Missense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.Q326K	ENST00000285093.10	37	c.976	CCDS11939.1	18	.	.	.	.	.	.	.	.	.	.	G	31	5.072789	0.93950	.	.	ENSG00000167315	ENST00000285093	D	0.93659	-3.26	5.58	5.58	0.84498	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98090	0.9370	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99091	1.0840	10	0.87932	D	0	-16.149	19.5743	0.95436	0.0:0.0:1.0:0.0	.	326;326	B2RB23;P42765	.;THIM_HUMAN	K	326	ENSP00000285093:Q326K	ENSP00000285093:Q326K	Q	-	1	0	ACAA2	45565698	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.349000	0.97066	2.611000	0.88343	0.655000	0.94253	CAG	ACAA2	-	pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000167315		0.403	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACAA2	HGNC	protein_coding	OTTHUMT00000255921.2	-	0.00	17	0	G	NM_006111		47311700	-1	tier1	-	no_errors	ENST00000285093	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	T
ADCK5	203054	genome.wustl.edu	37	8	145616197	145616197	+	Nonsense_Mutation	SNP	G	G	T	rs370821655		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:145616197G>T	ENST00000308860.6	+	5	528	c.484G>T	c.(484-486)Gag>Tag	p.E162*	ADCK5_ENST00000526231.2_3'UTR|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	162						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCTTCCCCCCGAGTATACCCG	0.692																																																	0													37.0	40.0	39.0					8																	145616197		2201	4299	6500	SO:0001587	stop_gained	0			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.484G>T	8.37:g.145616197G>T	ENSP00000310547:p.Glu162*		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Nonsense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.E162*	ENST00000308860.6	37	c.484	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744314	0.30865	.	.	ENSG00000173137	ENST00000308860	.	.	.	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-37.4333	13.5137	0.61528	0.0:0.0:1.0:0.0	.	.	.	.	X	162	.	ENSP00000310547:E162X	E	+	1	0	ADCK5	145587005	1.000000	0.71417	0.908000	0.35775	0.012000	0.07955	8.839000	0.92120	2.234000	0.73211	0.563000	0.77884	GAG	ADCK5	-	NULL	ENSG00000173137		0.692	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2		0.00	36	0	G	NM_174922		145616197	+1			no_errors	ENST00000308860	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.998	T
ADCY9	115	genome.wustl.edu	37	16	4027490	4027490	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:4027490G>T	ENST00000294016.3	-	9	3359	c.2821C>A	c.(2821-2823)Cca>Aca	p.P941T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	941					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TACCTGTCTGGGCACAGGGAG	0.652																																																	0													27.0	21.0	23.0					16																	4027490		2158	4271	6429	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2821C>A	16.37:g.4027490G>T	ENSP00000294016:p.Pro941Thr		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P941T	ENST00000294016.3	37	c.2821	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027531	0.75390	.	.	ENSG00000162104	ENST00000294016	D	0.83335	-1.71	5.5	5.5	0.81552	.	0.224315	0.43747	D	0.000537	T	0.80248	0.4588	L	0.51422	1.61	0.58432	D	0.999999	B	0.20671	0.047	B	0.15870	0.014	T	0.74293	-0.3712	10	0.27082	T	0.32	.	19.3959	0.94607	0.0:0.0:1.0:0.0	.	941	O60503	ADCY9_HUMAN	T	941	ENSP00000294016:P941T	ENSP00000294016:P941T	P	-	1	0	ADCY9	3967491	1.000000	0.71417	0.965000	0.40720	0.964000	0.63967	4.932000	0.63476	2.601000	0.87937	0.563000	0.77884	CCA	ADCY9	-	NULL	ENSG00000162104		0.652	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	-	0.00	42	0	G			4027490	-1	tier1	-	no_errors	ENST00000294016	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.999	T
AHNAK2	113146	genome.wustl.edu	37	14	105406708	105406708	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:105406708G>A	ENST00000333244.5	-	7	15199	c.15080C>T	c.(15079-15081)gCa>gTa	p.A5027V	AHNAK2_ENST00000557457.1_Missense_Mutation_p.A25V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5027						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGGGAAGTGCAAGTTTTGG	0.557																																																	0													105.0	108.0	107.0					14																	105406708		2000	4166	6166	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15080C>T	14.37:g.105406708G>A	ENSP00000353114:p.Ala5027Val		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A5027V	ENST00000333244.5	37	c.15080	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109564	0.37242	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02103	4.45;5.37	3.82	2.83	0.33086	.	.	.	.	.	T	0.05914	0.0154	L	0.50333	1.59	0.09310	N	1	D	0.62365	0.991	P	0.55824	0.785	T	0.37957	-0.9683	9	0.34782	T	0.22	.	11.2912	0.49252	0.0:0.2509:0.7491:0.0	.	5027	Q8IVF2	AHNK2_HUMAN	V	25;5027	ENSP00000450998:A25V;ENSP00000353114:A5027V	ENSP00000353114:A5027V	A	-	2	0	AHNAK2	104477753	0.002000	0.14202	0.003000	0.11579	0.075000	0.17131	1.182000	0.32029	1.861000	0.53984	0.561000	0.74099	GCA	AHNAK2	-	NULL	ENSG00000185567		0.557	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0.00	40	0	G	NM_138420		105406708	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.001	A
AKAP3	10566	genome.wustl.edu	37	12	4737281	4737281	+	Silent	SNP	G	G	T	rs199990710		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:4737281G>T	ENST00000545990.2	-	5	1311	c.787C>A	c.(787-789)Cgg>Agg	p.R263R	AKAP3_ENST00000228850.1_Silent_p.R263R|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	263					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTTCTCTCCCGAGGAAAGAAC	0.448																																																	0													86.0	83.0	84.0					12																	4737281		2203	4300	6503	SO:0001819	synonymous_variant	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.787C>A	12.37:g.4737281G>T			O75945|Q86X01|Q9UM61	Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.R263	ENST00000545990.2	37	c.787	CCDS8531.1	12																																																																																			AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.448	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	-	0.00	39	0	G	NM_006422		4737281	-1	tier1	-	no_errors	ENST00000228850	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.007	T
AKAP4	8852	genome.wustl.edu	37	X	49958407	49958407	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chrX:49958407C>T	ENST00000376056.2	-	5	1080	c.930G>A	c.(928-930)caG>caA	p.Q310Q	AKAP4_ENST00000358526.2_Silent_p.Q319Q|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.Q310Q					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGCTCTCTCTCTGGGACATCT	0.468																																																	0													48.0	40.0	43.0					X																	49958407		2203	4299	6502	SO:0001819	synonymous_variant	0			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.930G>A	X.37:g.49958407C>T				Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.Q319	ENST00000376056.2	37	c.957	CCDS14330.1	X																																																																																			AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000147081		0.468	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	-	0.00	25	0	C	NM_003886		49958407	-1	tier1	-	no_errors	ENST00000358526	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.261	T
AMPH	273	genome.wustl.edu	37	7	38468255	38468255	+	Intron	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:38468255G>A	ENST00000356264.2	-	14	1398				AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Intron|AMPH_ENST00000325590.5_Intron	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTCAATATTAGATACAGAGTA	0.393																																																	0																																										SO:0001627	intron_variant	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1182+1186C>T	7.37:g.38468255G>A			A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	RNA	SNP	-	NULL	ENST00000356264.2	37	NULL	CCDS5456.1	7																																																																																			AMPH	-	-	ENSG00000078053		0.393	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	-	0.00	48	0	G	NM_001635		38468255	-1	tier1	-	no_errors	ENST00000471913	ensembl	human	known	74_37	rna	19.40	54	13	SNP	0.000	A
ANKRD31	256006	genome.wustl.edu	37	5	74442625	74442625	+	Missense_Mutation	SNP	G	G	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:74442625G>C	ENST00000274361.3	-	14	2802	c.2611C>G	c.(2611-2613)Cat>Gat	p.H871D	ANKRD31_ENST00000506364.2_Missense_Mutation_p.H871D|ANKRD31_ENST00000504022.1_Intron	NM_001164443.1	NP_001157915.1	Q8N7Z5	ANR31_HUMAN	ankyrin repeat domain 31	871										endometrium(1)|kidney(4)	5						CTGTTTTCATGAGATTTATAA	0.348																																																	0													68.0	60.0	63.0					5																	74442625		692	1591	2283	SO:0001583	missense	0			AK097510	CCDS47233.1	5q13.3	2013-01-10			ENSG00000145700	ENSG00000145700		"""Ankyrin repeat domain containing"""	26853	protein-coding gene	gene with protein product							Standard	NM_001164443		Approved	FLJ40191	uc003kdo.2	Q8N7Z5	OTTHUMG00000162649	ENST00000274361.3:c.2611C>G	5.37:g.74442625G>C	ENSP00000274361:p.His871Asp			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H871D	ENST00000274361.3	37	c.2611		5	.	.	.	.	.	.	.	.	.	.	G	8.835	0.940766	0.18281	.	.	ENSG00000145700	ENST00000274361	T	0.61742	0.08	5.35	1.3	0.21679	.	.	.	.	.	T	0.33177	0.0854	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.21143	-1.0254	7	0.26408	T	0.33	.	6.9119	0.24340	0.2379:0.0:0.636:0.1261	.	.	.	.	D	871	ENSP00000274361:H871D	ENSP00000274361:H871D	H	-	1	0	ANKRD31	74478381	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.118000	0.10692	0.072000	0.16694	-0.797000	0.03246	CAT	ANKRD31	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000145700		0.348	ANKRD31-201	KNOWN	basic|appris_principal	protein_coding	ANKRD31	HGNC	protein_coding		-	0.00	59	0	G	NM_001164443		74442625	-1	tier1	-	no_errors	ENST00000274361	ensembl	human	known	74_37	missense	22.77	78	23	SNP	0.000	C
ANKRD50	57182	genome.wustl.edu	37	4	125591662	125591662	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:125591662C>A	ENST00000504087.1	-	4	3807	c.2770G>T	c.(2770-2772)Ggg>Tgg	p.G924W	ANKRD50_ENST00000515641.1_Missense_Mutation_p.G745W	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	924										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCCCTGTGCCCTTCTAATGCA	0.403																																																	0													90.0	87.0	88.0					4																	125591662		2203	4300	6503	SO:0001583	missense	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2770G>T	4.37:g.125591662C>A	ENSP00000425658:p.Gly924Trp		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G924W	ENST00000504087.1	37	c.2770	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043987	0.75732	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.75154	-0.91;-0.91	5.23	5.23	0.72850	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.89829	0.6828	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91868	0.5505	10	0.87932	D	0	.	18.9964	0.92815	0.0:1.0:0.0:0.0	.	924	Q9ULJ7	ANR50_HUMAN	W	924;745	ENSP00000425658:G924W;ENSP00000425355:G745W	ENSP00000425658:G924W	G	-	1	0	ANKRD50	125811112	1.000000	0.71417	0.857000	0.33713	0.858000	0.48976	7.164000	0.77533	2.724000	0.93272	0.561000	0.74099	GGG	ANKRD50	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151458		0.403	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1		0.00	35	0	C	NM_020337		125591662	-1			no_errors	ENST00000504087	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
ANO6	196527	genome.wustl.edu	37	12	45741883	45741883	+	Missense_Mutation	SNP	A	A	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:45741883A>G	ENST00000320560.8	+	5	620	c.418A>G	c.(418-420)Atg>Gtg	p.M140V	ANO6_ENST00000441606.2_Missense_Mutation_p.M122V|ANO6_ENST00000423947.3_Missense_Mutation_p.M161V|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.M140V|ANO6_ENST00000435642.1_Missense_Mutation_p.M140V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	140					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGCTGAGATAATGCACATCAA	0.408																																																	0													107.0	107.0	107.0					12																	45741883		2203	4300	6503	SO:0001583	missense	0			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.418A>G	12.37:g.45741883A>G	ENSP00000320087:p.Met140Val		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.M140V	ENST00000320560.8	37	c.418	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	A	9.342	1.063232	0.19987	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.18	2.77	0.32553	.	0.150124	0.64402	D	0.000010	T	0.64371	0.2592	M	0.77313	2.365	0.40268	D	0.978255	B;B;B;P	0.35077	0.255;0.029;0.38;0.483	B;B;B;B	0.35114	0.075;0.029;0.082;0.196	T	0.63659	-0.6587	10	0.54805	T	0.06	.	8.5697	0.33561	0.8007:0.1306:0.0687:0.0	.	122;161;140;140	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	V	140;161;140;140;122	ENSP00000391417:M140V;ENSP00000409126:M161V;ENSP00000413840:M140V;ENSP00000320087:M140V;ENSP00000413137:M122V	ENSP00000320087:M140V	M	+	1	0	ANO6	44028150	1.000000	0.71417	0.986000	0.45419	0.150000	0.21749	3.559000	0.53756	0.476000	0.27440	-0.290000	0.09829	ATG	ANO6	-	NULL	ENSG00000177119		0.408	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	-	0.00	30	0	A	XM_113743		45741883	+1	tier1	-	no_errors	ENST00000425752	ensembl	human	known	74_37	missense	45.71	19	16	SNP	1.000	G
AOC2	314	genome.wustl.edu	37	17	40997280	40997280	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:40997280C>T	ENST00000253799.3	+	1	664	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	AOC2_ENST00000452774.2_Missense_Mutation_p.R213C	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	213					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCGGGGCTTGCGCTCAGGGGA	0.592																																																	0													63.0	63.0	63.0					17																	40997280		2203	4299	6502	SO:0001583	missense	0			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.637C>T	17.37:g.40997280C>T	ENSP00000253799:p.Arg213Cys		A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.R213C	ENST00000253799.3	37	c.637	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371677	0.24771	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.18174	2.23;2.23	5.51	0.855	0.19013	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.733347	0.13021	N	0.420071	T	0.20981	0.0505	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.65140	0.932;0.888	T	0.09885	-1.0654	10	0.56958	D	0.05	-19.8737	3.1267	0.06409	0.1772:0.5156:0.1034:0.2038	.	213;213	O75106;O75106-2	AOC2_HUMAN;.	C	213	ENSP00000253799:R213C;ENSP00000406134:R213C	ENSP00000253799:R213C	R	+	1	0	AOC2	38250806	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-0.006000	0.12833	0.301000	0.22738	0.655000	0.94253	CGC	AOC2	-	pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	ENSG00000131480		0.592	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1		0.00	12	0	C	NM_009590, NM_001158		40997280	+1			no_errors	ENST00000253799	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.000	T
APOL5	80831	genome.wustl.edu	37	22	36122366	36122366	+	Missense_Mutation	SNP	G	G	T	rs369534518		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr22:36122366G>T	ENST00000249044.2	+	3	251	c.251G>T	c.(250-252)cGa>cTa	p.R84L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	84					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GAGCTGATGCGATGTGACAAA	0.413																																																	0													112.0	99.0	103.0					22																	36122366		2203	4300	6503	SO:0001583	missense	0			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.251G>T	22.37:g.36122366G>T	ENSP00000249044:p.Arg84Leu		Q5TFL9|Q9UGW5	Missense_Mutation	SNP	pfam_ApoL	p.R84L	ENST00000249044.2	37	c.251	CCDS13920.1	22	.	.	.	.	.	.	.	.	.	.	G	2.440	-0.328807	0.05314	.	.	ENSG00000128313	ENST00000249044	T	0.05786	3.39	2.38	-4.76	0.03229	.	6.533530	0.00754	N	0.001097	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.16289	0.015	T	0.37384	-0.9708	10	0.21014	T	0.42	.	0.9921	0.01459	0.3877:0.1254:0.3119:0.175	.	84	Q9BWW9	APOL5_HUMAN	L	84	ENSP00000249044:R84L	ENSP00000249044:R84L	R	+	2	0	APOL5	34452312	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.526000	0.02229	-2.415000	0.00568	-1.797000	0.00622	CGA	APOL5	-	pfam_ApoL	ENSG00000128313		0.413	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL5	HGNC	protein_coding	OTTHUMT00000318979.1		0.00	11	0	G	NM_030642		36122366	+1			no_errors	ENST00000249044	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.000	T
ASXL3	80816	genome.wustl.edu	37	18	31319196	31319196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:31319196G>T	ENST00000269197.5	+	11	1828	c.1828G>T	c.(1828-1830)Gaa>Taa	p.E610*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	610	Ser-rich.				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						CTGCATCTCTGAAACGTCCTT	0.478																																																	0													55.0	55.0	55.0					18																	31319196		1869	4107	5976	SO:0001587	stop_gained	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.1828G>T	18.37:g.31319196G>T	ENSP00000269197:p.Glu610*		Q6ZMX6|Q96MU3|Q9UFC5	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E610*	ENST00000269197.5	37	c.1828	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	G	36	5.929412	0.97116	.	.	ENSG00000141431	ENST00000269197	.	.	.	5.46	5.46	0.80206	.	0.639767	0.15687	N	0.249619	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.6763	0.95934	0.0:0.0:1.0:0.0	.	.	.	.	X	610	.	ENSP00000269197:E610X	E	+	1	0	ASXL3	29573194	1.000000	0.71417	0.991000	0.47740	0.863000	0.49368	6.722000	0.74735	2.725000	0.93324	0.460000	0.39030	GAA	ASXL3	-	NULL	ENSG00000141431		0.478	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0.00	14	0	G			31319196	+1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	nonsense	40.91	13	9	SNP	1.000	T
ATCAY	85300	genome.wustl.edu	37	19	3902495	3902495	+	Missense_Mutation	SNP	G	G	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:3902495G>C	ENST00000450849.2	+	3	555	c.88G>C	c.(88-90)Gaa>Caa	p.E30Q	ATCAY_ENST00000398448.3_Missense_Mutation_p.E36Q|ATCAY_ENST00000301260.6_Missense_Mutation_p.E30Q|ATCAY_ENST00000600960.1_Missense_Mutation_p.E30Q	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	30					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GCCACTCCCAGAAGAGACGGG	0.612																																																	0													18.0	22.0	21.0					19																	3902495		1962	4128	6090	SO:0001583	missense	0				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.88G>C	19.37:g.3902495G>C	ENSP00000390941:p.Glu30Gln		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E30Q	ENST00000450849.2	37	c.88	CCDS45923.1	19	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187466	0.57909	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448	T;T;T	0.52754	0.65;0.65;0.94	4.34	4.34	0.51931	.	0.147058	0.45867	D	0.000327	T	0.67896	0.2942	M	0.80332	2.49	0.37740	D	0.925602	D;D	0.89917	1.0;0.998	D;P	0.66716	0.946;0.878	T	0.76152	-0.3064	10	0.66056	D	0.02	-1.5166	14.1747	0.65534	0.0:0.0:1.0:0.0	.	36;30	B4DS11;Q86WG3	.;ATCAY_HUMAN	Q	30;30;30;36	ENSP00000390941:E30Q;ENSP00000301260:E30Q;ENSP00000381466:E36Q	ENSP00000301260:E30Q	E	+	1	0	ATCAY	3853495	1.000000	0.71417	0.991000	0.47740	0.198000	0.23893	6.558000	0.73942	2.241000	0.73720	0.462000	0.41574	GAA	ATCAY	-	NULL	ENSG00000167654		0.612	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2		0.00	29	0	G			3902495	+1			no_errors	ENST00000301260	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	C
ATF7IP2	80063	genome.wustl.edu	37	16	10567798	10567798	+	Missense_Mutation	SNP	G	G	T	rs368884368		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:10567798G>T	ENST00000396560.2	+	10	1728	c.1501G>T	c.(1501-1503)Gat>Tat	p.D501Y	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.D501Y|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.D45Y|ATF7IP2_ENST00000324570.5_Intron|ATF7IP2_ENST00000396559.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GAAGAAACTTGATTCTATAAT	0.279																																																	0													32.0	34.0	33.0					16																	10567798		2195	4300	6495	SO:0001583	missense	0			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1501G>T	16.37:g.10567798G>T	ENSP00000379808:p.Asp501Tyr		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.D501Y	ENST00000396560.2	37	c.1501	CCDS10540.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.37|11.37	1.617911|1.617911	0.28801|0.28801	.|.	.|.	ENSG00000166669|ENSG00000166669	ENST00000543967;ENST00000396560;ENST00000356427|ENST00000535850	T;T;T|.	0.49139|.	0.79;0.79;0.79|.	4.32|4.32	3.37|3.37	0.38596|0.38596	.|.	0.563926|.	0.17381|.	N|.	0.176303|.	T|T	0.49423|0.49423	0.1556|0.1556	L|L	0.52573|0.52573	1.65|1.65	0.31968|0.31968	N|N	0.607597|0.607597	D|.	0.69078|.	0.997|.	D|.	0.65233|.	0.933|.	T|T	0.60193|0.60193	-0.7311|-0.7311	10|6	0.72032|0.87932	D|D	0.01|0	-14.0837|-14.0837	8.3332|8.3332	0.32200|0.32200	0.1054:0.0:0.8946:0.0|0.1054:0.0:0.8946:0.0	.|.	501|.	Q5U623|.	MCAF2_HUMAN|.	Y|F	45;501;501|423	ENSP00000446119:D45Y;ENSP00000379808:D501Y;ENSP00000348799:D501Y|.	ENSP00000348799:D501Y|ENSP00000440791:L423F	D|L	+|+	1|3	0|2	ATF7IP2|ATF7IP2	10475299|10475299	0.999000|0.999000	0.42202|0.42202	0.269000|0.269000	0.24586|0.24586	0.417000|0.417000	0.31264|0.31264	3.562000|3.562000	0.53777|0.53777	1.429000|1.429000	0.47314|0.47314	0.579000|0.579000	0.79373|0.79373	GAT|TTG	ATF7IP2	-	NULL	ENSG00000166669		0.279	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	HGNC	protein_coding	OTTHUMT00000251961.1	-	0.00	64	0	G	NM_024997		10567798	+1	tier1	-	no_errors	ENST00000356427	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.413	T
ATG2B	55102	genome.wustl.edu	37	14	96752109	96752109	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:96752109G>A	ENST00000359933.4	-	42	7113	c.6220C>T	c.(6220-6222)Cgc>Tgc	p.R2074C		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2074					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.R2074C(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCCCCGTGGCGCCATTTCTGT	0.522																																																	1	Substitution - Missense(1)	urinary_tract(1)											131.0	99.0	110.0					14																	96752109		2203	4300	6503	SO:0001583	missense	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.6220C>T	14.37:g.96752109G>A	ENSP00000353010:p.Arg2074Cys		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.R2074C	ENST00000359933.4	37	c.6220	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425088	0.83667	.	.	ENSG00000066739	ENST00000359933	T	0.15718	2.4	5.76	5.76	0.90799	Autophagy-related, C-terminal (1);	0.079346	0.64402	D	0.000007	T	0.46034	0.1372	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46428	-0.9192	10	0.87932	D	0	.	14.7746	0.69713	0.0:0.0:0.8557:0.1443	.	2074	Q96BY7	ATG2B_HUMAN	C	2074	ENSP00000353010:R2074C	ENSP00000353010:R2074C	R	-	1	0	ATG2B	95821862	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	5.814000	0.69208	2.713000	0.92767	0.655000	0.94253	CGC	ATG2B	-	pfam_Autophagy-rel_C	ENSG00000066739		0.522	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	-	0.00	15	0	G	NM_018036		96752109	-1	tier1	-	no_errors	ENST00000359933	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	A
PTCD1	26024	genome.wustl.edu	37	7	99021462	99021462	+	Frame_Shift_Del	DEL	G	G	-	rs374595581		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:99021462delG	ENST00000292478.4	-	7	2106	c.1856delC	c.(1855-1857)ccgfs	p.P619fs	PTCD1_ENST00000555673.1_Frame_Shift_Del_p.P668fs|ATP5J2-PTCD1_ENST00000413834.1_Frame_Shift_Del_p.P668fs	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	619					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TTCGTTCACCGGGACCCTGTT	0.542																																																	0													224.0	179.0	195.0					7																	99021462		2203	4300	6503	SO:0001589	frameshift_variant	0			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1856delC	7.37:g.99021462delG	ENSP00000292478:p.Pro619fs		Q3ZB78|Q66K60|Q9UDV2	Frame_Shift_Del	DEL	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.P668fs	ENST00000292478.4	37	c.2003	CCDS34691.1	7																																																																																			ATP5J2-PTCD1	-	NULL	ENSG00000248919		0.542	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5J2-PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1		0.00	59	0	G	NM_015545		99021462	-1			no_errors	ENST00000413834	ensembl	human	known	74_37	frame_shift_del	8.25	89	8	DEL	0.938	0
ATP9A	10079	genome.wustl.edu	37	20	50244141	50244141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr20:50244141C>A	ENST00000338821.5	-	17	2107	c.1843G>T	c.(1843-1845)Gaa>Taa	p.E615*	ATP9A_ENST00000311637.5_Nonsense_Mutation_p.E479*|ATP9A_ENST00000402822.1_Nonsense_Mutation_p.E494*	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	615					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						caACTTACTTCAAAGTCCTGA	0.537																																																	0													224.0	197.0	206.0					20																	50244141		2203	4300	6503	SO:0001587	stop_gained	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1843G>T	20.37:g.50244141C>A	ENSP00000342481:p.Glu615*		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	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.E615*	ENST00000338821.5	37	c.1843	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	C	38	7.133198	0.98085	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	.	.	.	4.89	4.89	0.63831	.	0.049032	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-29.0117	18.4132	0.90559	0.0:1.0:0.0:0.0	.	.	.	.	X	479;615;494	.	ENSP00000309086:E479X	E	-	1	0	ATP9A	49677548	1.000000	0.71417	0.283000	0.24790	0.112000	0.19704	7.339000	0.79282	2.411000	0.81874	0.561000	0.74099	GAA	ATP9A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000054793		0.537	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	-	0.00	42	0	C	NM_006045		50244141	-1	tier1	-	no_errors	ENST00000338821	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	A
AXIN2	8313	genome.wustl.edu	37	17	63533733	63533735	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	TGG	TGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:63533733_63533735delTGG	ENST00000375702.5	-	5	1527_1529	c.1419_1421delCCA	c.(1417-1422)caccat>cat	p.473_474HH>H	AXIN2_ENST00000307078.5_In_Frame_Del_p.473_474HH>H			Q9Y2T1	AXIN2_HUMAN	axin 2	473	Interaction with beta-catenin. {ECO:0000250}.|Poly-His.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GTACTGCGAATGGTGGTGGTGGT	0.709									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																								0																																										SO:0001651	inframe_deletion	0	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1419_1421delCCA	17.37:g.63533742_63533744delTGG	ENSP00000364854:p.His474del		Q3MJ88|Q9H3M6|Q9UH84	In_Frame_Del	DEL	pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.H474in_frame_del	ENST00000375702.5	37	c.1421_1419		17																																																																																			AXIN2	-	NULL	ENSG00000168646		0.709	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1		0.00	24	0	TGG	NM_004655		63533735	-1	tier1		no_errors	ENST00000307078	ensembl	human	known	74_37	in_frame_del	7.69	24	2	DEL	0.471:0.843:0.868	-
B3GNT6	192134	genome.wustl.edu	37	11	76751188	76751188	+	Missense_Mutation	SNP	C	C	T	rs376838217		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:76751188C>T	ENST00000533140.1	+	2	731	c.593C>T	c.(592-594)aCg>aTg	p.T198M	B3GNT6_ENST00000354301.5_Missense_Mutation_p.T198M|B3GNT6_ENST00000421061.1_Missense_Mutation_p.T109M			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CTCAACCTCACGCTCAAGCAC	0.706																																																	0													44.0	48.0	47.0					11																	76751188		2196	4280	6476	SO:0001583	missense	0			AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.593C>T	11.37:g.76751188C>T	ENSP00000435352:p.Thr198Met		Q4TTN0	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.T198M	ENST00000533140.1	37	c.593	CCDS53681.1	11	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334427	0.81801	.	.	ENSG00000198488	ENST00000533140;ENST00000354301;ENST00000421061	T;T;T	0.52526	0.66;0.66;0.66	3.28	3.28	0.37604	.	0.139381	0.50627	D	0.000109	T	0.77857	0.4193	H	0.97587	4.035	0.44825	D	0.997835	D	0.89917	1.0	D	0.83275	0.996	D	0.85397	0.1129	10	0.87932	D	0	.	12.8278	0.57728	0.0:1.0:0.0:0.0	.	198	Q6ZMB0	B3GN6_HUMAN	M	198;198;109	ENSP00000435352:T198M;ENSP00000346256:T198M;ENSP00000403463:T109M	ENSP00000346256:T198M	T	+	2	0	B3GNT6	76428836	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.958000	0.76025	2.113000	0.64589	0.462000	0.41574	ACG	B3GNT6	-	pfam_Glyco_trans_31	ENSG00000198488		0.706	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	B3GNT6	HGNC	protein_coding	OTTHUMT00000382740.2	-	0.00	42	0	C	NM_138706		76751188	+1	tier1	-	no_errors	ENST00000533140	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
BCL9L	283149	genome.wustl.edu	37	11	118772974	118772974	+	Missense_Mutation	SNP	G	G	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:118772974G>C	ENST00000334801.3	-	6	2442	c.1478C>G	c.(1477-1479)cCg>cGg	p.P493R	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	493	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GTCCCCACCCGGGGGGTGCCC	0.622																																																	0													58.0	71.0	66.0					11																	118772974		2188	4274	6462	SO:0001583	missense	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1478C>G	11.37:g.118772974G>C	ENSP00000335320:p.Pro493Arg		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P493R	ENST00000334801.3	37	c.1478	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	G	9.340	1.062886	0.19987	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.77098	-1.07	4.62	2.61	0.31194	.	0.551265	0.13859	N	0.357808	T	0.66752	0.2821	L	0.46157	1.445	0.34160	D	0.668593	B;B	0.30406	0.023;0.278	B;B	0.29176	0.041;0.099	T	0.63475	-0.6629	10	0.23302	T	0.38	-9.0744	6.5931	0.22658	0.0846:0.0:0.5811:0.3343	.	488;493	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	R	493;456;493;493	ENSP00000335320:P493R	ENSP00000335320:P493R	P	-	2	0	BCL9L	118278184	0.999000	0.42202	0.519000	0.27824	0.823000	0.46562	3.219000	0.51200	0.482000	0.27582	0.305000	0.20034	CCG	BCL9L	-	NULL	ENSG00000186174		0.622	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1		0.00	23	0	G	NM_182557		118772974	-1			no_errors	ENST00000334801	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.944	C
BDP1	55814	genome.wustl.edu	37	5	70810788	70810788	+	Missense_Mutation	SNP	G	G	T	rs200549009		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:70810788G>T	ENST00000358731.4	+	20	4751	c.4488G>T	c.(4486-4488)atG>atT	p.M1496I	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1496					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTTCCCTAATGATATCAAGAG	0.348																																																	0													57.0	54.0	55.0					5																	70810788		1854	4098	5952	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4488G>T	5.37:g.70810788G>T	ENSP00000351575:p.Met1496Ile		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.M1496I	ENST00000358731.4	37	c.4488	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	6.397	0.441325	0.12164	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.09723	2.95	4.65	2.87	0.33458	.	0.637163	0.14780	N	0.298872	T	0.10981	0.0268	L	0.56769	1.78	0.09310	N	0.999991	B;P	0.38370	0.017;0.628	B;B	0.35039	0.013;0.194	T	0.16394	-1.0404	10	0.59425	D	0.04	.	7.1277	0.25482	0.1926:0.0:0.8074:0.0	.	1496;1496	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	I	1496;1076	ENSP00000351575:M1496I	ENSP00000351575:M1496I	M	+	3	0	BDP1	70846544	0.022000	0.18835	0.006000	0.13384	0.212000	0.24457	1.913000	0.39956	0.586000	0.29626	0.484000	0.47621	ATG	BDP1	-	NULL	ENSG00000145734		0.348	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	-	0.00	18	0	G	NM_018429		70810788	+1	tier1	-	no_errors	ENST00000358731	ensembl	human	known	74_37	missense	24.14	22	7	SNP	0.004	T
Unknown	0	genome.wustl.edu	37	16	33490487	33490487	+	IGR	SNP	C	C	T	rs537382936		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:33490487C>T								RP11-23E10.4 (123674 upstream) : BMS1P8 (6675 downstream)																							ATGAGGCTCACGCATGACGGC	0.453													c|||	1	0.000199681	0.0	0.0	5008	,	,		37224	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001628	intergenic_variant	0																															16.37:g.33490487C>T				RNA	SNP	-	NULL		37	NULL		16																																																																																			BMS1P8	-	-	ENSG00000260518	0	0.453					BMS1P8	HGNC			-	0.00	19	0	C			33490487	-1	tier1	-	no_errors	ENST00000567036	ensembl	human	known	74_37	rna	39.13	14	9	SNP	0.985	T
BOC	91653	genome.wustl.edu	37	3	112998245	112998245	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:112998245G>T	ENST00000495514.1	+	12	2667	c.1963G>T	c.(1963-1965)Gcc>Tcc	p.A655S	BOC_ENST00000355385.3_Missense_Mutation_p.A655S|BOC_ENST00000273395.4_Missense_Mutation_p.A656S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	655	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTGGATTCTGGCCACCAGCGC	0.607																																																	0													62.0	68.0	66.0					3																	112998245		2203	4300	6503	SO:0001583	missense	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1963G>T	3.37:g.112998245G>T	ENSP00000418663:p.Ala655Ser		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	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.A656S	ENST00000495514.1	37	c.1966	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.424595	0.96111	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57107	0.42;0.42;0.42	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.110926	0.64402	D	0.000009	T	0.72236	0.3435	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	0.998;1.0	T	0.66626	-0.5876	10	0.18710	T	0.47	.	19.4878	0.95037	0.0:0.0:1.0:0.0	.	656;655	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	S	655;656;655	ENSP00000418663:A655S;ENSP00000273395:A656S;ENSP00000347546:A655S	ENSP00000273395:A656S	A	+	1	0	BOC	114480935	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.230000	0.95299	2.596000	0.87737	0.563000	0.77884	GCC	BOC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144857		0.607	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	-	0.00	30	0	G	NM_033254		112998245	+1	tier1	-	no_errors	ENST00000273395	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T
BAIAP2L1	55971	genome.wustl.edu	37	7	97921978	97921978	+	3'UTR	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:97921978G>T	ENST00000005260.8	-	0	2606				BRI3_ENST00000539286.1_Silent_p.T91T	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1						filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTTTACACGTATCCTTTGA	0.527																																																	0													126.0	118.0	121.0					7																	97921978		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.*855C>A	7.37:g.97921978G>T			A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	pfam_Brain_I3	p.T91	ENST00000005260.8	37	c.273	CCDS34687.1	7																																																																																			BRI3	-	NULL	ENSG00000164713		0.527	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3	HGNC	protein_coding	OTTHUMT00000334681.1	-	0.00	30	0	G	NM_018842		97921978	+1	tier1	-	no_errors	ENST00000539286	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.000	T
C10orf82	143379	genome.wustl.edu	37	10	118424288	118424288	+	Missense_Mutation	SNP	G	G	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:118424288G>C	ENST00000369210.3	-	4	499	c.445C>G	c.(445-447)Ctg>Gtg	p.L149V	C10orf82_ENST00000588184.1_Missense_Mutation_p.L149V	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	149										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TATGGTTTCAGATGTGCCTTC	0.527																																																	0													172.0	138.0	149.0					10																	118424288		2203	4300	6503	SO:0001583	missense	0			BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.445C>G	10.37:g.118424288G>C	ENSP00000358212:p.Leu149Val		B3KUM9|D3DRC3	Missense_Mutation	SNP	NULL	p.L149V	ENST00000369210.3	37	c.445	CCDS7596.1	10	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376065	0.42105	.	.	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.49432	0.78	6.08	3.08	0.35506	.	0.840897	0.10388	N	0.680706	T	0.48466	0.1501	M	0.73962	2.25	0.09310	N	1	P	0.46142	0.873	P	0.44811	0.461	T	0.36016	-0.9765	10	0.31617	T	0.26	-9.9171	5.0265	0.14387	0.0797:0.1453:0.6246:0.1503	.	149	Q8WW14	CJ082_HUMAN	V	149	ENSP00000358212:L149V	ENSP00000358212:L149V	L	-	1	2	C10orf82	118414278	0.092000	0.21681	0.050000	0.19076	0.682000	0.39822	0.546000	0.23284	0.822000	0.34565	0.655000	0.94253	CTG	C10orf82	-	NULL	ENSG00000165863		0.527	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	C10orf82	HGNC	protein_coding	OTTHUMT00000050527.1	-	0.00	38	0	G	NM_144661		118424288	-1	tier1	-	no_errors	ENST00000588184	ensembl	human	known	74_37	missense	19.64	45	11	SNP	0.066	C
C17orf112	100506650	genome.wustl.edu	37	17	51063835	51063835	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:51063835C>T	ENST00000441889.1	+	2	238	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L		NM_001243552.1	NP_001230481.1	F2Z3M2	CQ112_HUMAN	chromosome 17 open reading frame 112	27																	TTCACCTCCTCTGGCCAACTC	0.443																																																	0																																										SO:0001819	synonymous_variant	0				CCDS56040.1	17q22	2012-10-23			ENSG00000227011	ENSG00000227011			42963	protein-coding gene	gene with protein product							Standard	NM_001243552		Approved		uc021uaf.1	F2Z3M2	OTTHUMG00000132355	ENST00000441889.1:c.79C>T	17.37:g.51063835C>T				Silent	SNP	NULL	p.L27	ENST00000441889.1	37	c.79	CCDS56040.1	17																																																																																			C17orf112	-	NULL	ENSG00000227011		0.443	C17orf112-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	C17orf112	HGNC	protein_coding	OTTHUMT00000255477.1	-	0.00	32	0	C	NM_001243552		51063835	+1	tier1	-	no_errors	ENST00000441889	ensembl	human	putative	74_37	silent	38.30	29	18	SNP	0.016	T
CCDC185	164127	genome.wustl.edu	37	1	223568089	223568089	+	Silent	SNP	G	G	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:223568089G>C	ENST00000366875.3	+	1	1375	c.1272G>C	c.(1270-1272)ctG>ctC	p.L424L		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		424										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		ACACCAACCTGAGCTCCCTCA	0.602																																																	0													40.0	33.0	36.0					1																	223568089		2203	4299	6502	SO:0001819	synonymous_variant	0																														ENST00000366875.3:c.1272G>C	1.37:g.223568089G>C			Q8N746|Q8NA93	Silent	SNP	NULL	p.L424	ENST00000366875.3	37	c.1272	CCDS1537.1	1																																																																																			C1orf65	-	NULL	ENSG00000178395		0.602	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf65	HGNC	protein_coding	OTTHUMT00000092718.1	-	0.00	9	0	G			223568089	+1	tier1	-	no_errors	ENST00000366875	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.001	C
C4orf22	255119	genome.wustl.edu	37	4	81504291	81504291	+	Missense_Mutation	SNP	C	C	T	rs142731425		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:81504291C>T	ENST00000358105.3	+	3	336	c.287C>T	c.(286-288)aCg>aTg	p.T96M	C4orf22_ENST00000508675.1_Missense_Mutation_p.T96M|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	96										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AATTTTCTGACGGCCCTGGCA	0.353													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13447	0.0		0.0	False		,,,				2504	0.0																0								C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	81.0	80.0	80.0		287,287	1.8	1.0	4	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	C4orf22	NM_001206997.1,NM_152770.2	81,81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	96/251,96/234	81504291	2,13004	2203	4300	6503	SO:0001583	missense	0			BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.287C>T	4.37:g.81504291C>T	ENSP00000350818:p.Thr96Met		E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	NULL	p.T96M	ENST00000358105.3	37	c.287	CCDS3587.1	4	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	3.828	-0.036334	0.07497	2.27E-4	1.16E-4	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.30448	1.53;1.53	5.55	1.79	0.24919	.	0.190189	0.43110	N	0.000604	T	0.12092	0.0294	N	0.08118	0	0.26925	N	0.966598	B;B	0.20887	0.039;0.049	B;B	0.19391	0.021;0.025	T	0.16188	-1.0411	10	0.27082	T	0.32	.	3.2936	0.06958	0.5331:0.2648:0.0705:0.1316	.	96;96	E7EQ13;Q6V702	.;CD022_HUMAN	M	96	ENSP00000350818:T96M;ENSP00000425786:T96M	ENSP00000350818:T96M	T	+	2	0	C4orf22	81723315	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	1.547000	0.36190	0.171000	0.19730	-2.610000	0.00160	ACG	C4orf22	-	NULL	ENSG00000197826		0.353	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf22	HGNC	protein_coding	OTTHUMT00000252629.2		0.00	38	0	C	NM_152770		81504291	+1			no_errors	ENST00000508675	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T
CACNA1C	775	genome.wustl.edu	37	12	2690840	2690840	+	Silent	SNP	C	C	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:2690840C>G	ENST00000347598.4	+	14	1980	c.1980C>G	c.(1978-1980)ctC>ctG	p.L660L	CACNA1C_ENST00000399617.1_Silent_p.L660L|CACNA1C_ENST00000399644.1_Silent_p.L660L|CACNA1C_ENST00000480911.1_Silent_p.L660L|CACNA1C_ENST00000399641.1_Silent_p.L660L|CACNA1C_ENST00000327702.7_Silent_p.L660L|CACNA1C_ENST00000399649.1_Silent_p.L660L|CACNA1C_ENST00000406454.3_Silent_p.L660L|CACNA1C_ENST00000399634.1_Silent_p.L660L|CACNA1C_ENST00000335762.5_Silent_p.L685L|CACNA1C_ENST00000402845.3_Silent_p.L660L|CACNA1C_ENST00000399629.1_Silent_p.L660L|CACNA1C_ENST00000399638.1_Silent_p.L660L|CACNA1C_ENST00000399637.1_Silent_p.L660L|CACNA1C_ENST00000399595.1_Silent_p.L660L|CACNA1C_ENST00000399603.1_Silent_p.L660L|CACNA1C_ENST00000399655.1_Silent_p.L660L|CACNA1C_ENST00000399606.1_Silent_p.L660L|CACNA1C_ENST00000344100.3_Silent_p.L660L|CACNA1C_ENST00000399591.1_Silent_p.L660L|CACNA1C_ENST00000399621.1_Silent_p.L660L|CACNA1C_ENST00000399601.1_Silent_p.L660L|CACNA1C_ENST00000399597.1_Silent_p.L660L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	660	Poly-Leu.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	tcctcttcctcttcatcatca	0.537																																																	0													116.0	117.0	116.0					12																	2690840		2202	4300	6502	SO:0001819	synonymous_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1980C>G	12.37:g.2690840C>G			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L660	ENST00000347598.4	37	c.1980	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom	ENSG00000151067		0.537	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0.00	71	0	C	NM_000719		2690840	+1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	silent	37.84	46	28	SNP	1.000	G
CAMSAP1	157922	genome.wustl.edu	37	9	138703425	138703425	+	Silent	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:138703425G>A	ENST00000389532.4	-	17	4603	c.4539C>T	c.(4537-4539)atC>atT	p.I1513I	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.I1524I|CAMSAP1_ENST00000312405.6_Silent_p.I1235I	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1513	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GAAACAGTATGATGTAGTGAT	0.502																																																	0													81.0	62.0	69.0					9																	138703425		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4539C>T	9.37:g.138703425G>A			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.I1524	ENST00000389532.4	37	c.4572	CCDS35176.2	9																																																																																			CAMSAP1	-	pfam_CKK_domain,superfamily_PRC_barrel-like	ENSG00000130559		0.502	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2		0.00	41	0	G	XM_351857		138703425	-1			no_errors	ENST00000409386	ensembl	human	known	74_37	silent	9.38	29	3	SNP	1.000	A
CAPN6	827	genome.wustl.edu	37	X	110489963	110489963	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chrX:110489963C>T	ENST00000324068.1	-	13	1935	c.1768G>A	c.(1768-1770)Gat>Aat	p.D590N	CAPN6_ENST00000541758.1_Missense_Mutation_p.D335N	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	590	C2.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AAGAACTGATCACAGAATTTT	0.517																																																	0													76.0	61.0	66.0					X																	110489963		2203	4300	6503	SO:0001583	missense	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1768G>A	X.37:g.110489963C>T	ENSP00000317214:p.Asp590Asn		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D590N	ENST00000324068.1	37	c.1768	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176434	0.78564	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.76839	-1.05;-1.05	5.24	5.24	0.73138	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.705359	0.13607	N	0.375440	D	0.88175	0.6366	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87750	0.2591	10	0.72032	D	0.01	.	12.7707	0.57419	0.0:0.8382:0.1618:0.0	.	590	Q9Y6Q1	CAN6_HUMAN	N	590;335	ENSP00000317214:D590N;ENSP00000441736:D335N	ENSP00000317214:D590N	D	-	1	0	CAPN6	110376619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.938000	0.63519	2.426000	0.82243	0.500000	0.49745	GAT	CAPN6	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000077274		0.517	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1		0.00	9	0	C			110489963	-1			no_errors	ENST00000324068	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T
CATSPERD	257062	genome.wustl.edu	37	19	5724873	5724873	+	Splice_Site	SNP	G	G	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:5724873G>C	ENST00000381624.3	+	2	187	c.126G>C	c.(124-126)ggG>ggC	p.G42G	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	42					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											ACGTTCAAGGGGTATGTGGCT	0.413																																																	0													208.0	193.0	198.0					19																	5724873		1925	4137	6062	SO:0001630	splice_region_variant	0			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.126+1G>C	19.37:g.5724873G>C			Q6ZRP1	Silent	SNP	superfamily_WD40_repeat_dom	p.G42	ENST00000381624.3	37	c.126	CCDS12149.2	19																																																																																			CATSPERD	-	NULL	ENSG00000174898		0.413	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	-	0.00	46	0	G	NM_152784	Silent	5724873	+1	tier1	-	no_errors	ENST00000381624	ensembl	human	known	74_37	silent	11.67	53	7	SNP	0.995	C
CASP14	23581	genome.wustl.edu	37	19	15164590	15164590	+	Missense_Mutation	SNP	G	G	T	rs146833428		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:15164590G>T	ENST00000427043.3	+	4	532	c.224G>T	c.(223-225)cGg>cTg	p.R75L	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.R75L	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	75					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.R75Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ATCGATTCCCGGGAAGATCCC	0.547																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											75.0	68.0	70.0					19																	15164590		2203	4300	6503	SO:0001583	missense	0				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.224G>T	19.37:g.15164590G>T	ENSP00000393417:p.Arg75Leu		O95823|Q3SYC9	Missense_Mutation	SNP	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.R75L	ENST00000427043.3	37	c.224	CCDS12323.1	19	.	.	.	.	.	.	.	.	.	.	g	3.061	-0.193267	0.06259	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.21191	2.02;2.02	4.91	3.85	0.44370	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	1.443330	0.04357	N	0.356799	T	0.21103	0.0508	L	0.39633	1.23	0.09310	N	0.999999	B	0.12013	0.005	B	0.17098	0.017	T	0.11518	-1.0584	10	0.30078	T	0.28	.	9.5281	0.39175	0.1022:0.0:0.8978:0.0	.	75	P31944	CASPE_HUMAN	L	75	ENSP00000393417:R75L;ENSP00000221740:R75L	ENSP00000221740:R75L	R	+	2	0	CASP14	15025590	0.017000	0.18338	0.044000	0.18714	0.413000	0.31143	1.024000	0.30077	2.257000	0.74773	0.306000	0.20318	CGG	CASP14	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20	ENSG00000105141		0.547	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	HGNC	protein_coding	OTTHUMT00000465663.1		0.00	38	0	G	NM_012114		15164590	+1			no_errors	ENST00000221740	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.201	T
CCDC148	130940	genome.wustl.edu	37	2	159107284	159107284	+	Splice_Site	DEL	T	T	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:159107284delT	ENST00000283233.5	-	10	1564	c.1251delA	c.(1249-1251)aaa>aa	p.K417fs	CCDC148_ENST00000409187.1_Splice_Site_p.K426fs	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	417	Glu/Lys-rich.									endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GATtttttactttttttttct	0.358																																																	0										43,4193		2,39,2077	42.0	41.0	41.0			5.4	0.5	2		42	99,8103		2,95,4004	no	frameshift-near-splice	CCDC148	NM_138803.3		4,134,6081	A1A1,A1R,RR		1.207,1.0151,1.1417			159107284	142,12296	2190	4276	6466	SO:0001630	splice_region_variant	0				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1251+1A>-	2.37:g.159107284delT			F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Frame_Shift_Del	DEL	NULL	p.I418fs	ENST00000283233.5	37	c.1251	CCDS33304.1	2																																																																																			CCDC148	-	NULL	ENSG00000153237		0.358	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	HGNC	protein_coding	OTTHUMT00000333270.1		0.00	26	0	T	NM_138803	Frame_Shift_Del	159107284	-1	tier1		no_errors	ENST00000283233	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	0.032	-
CD247	919	genome.wustl.edu	37	1	167404209	167404210	+	Intron	INS	-	-	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:167404209_167404210insT	ENST00000362089.5	-	5	409				CD247_ENST00000392122.3_Intron|CD247_ENST00000483825.1_5'UTR			P20963	CD3Z_HUMAN	CD247 molecule						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	ctccggagccctcctccagccc	0.688																																					Ovarian(192;1815 2869 36877 43334)												0																																										SO:0001627	intron_variant	0			BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.336+425->A	1.37:g.167404210_167404210dupT			B1AK49|Q5VX13|Q8TAX4	RNA	INS	-	NULL	ENST00000362089.5	37	NULL	CCDS1261.1	1																																																																																			CD247	-	-	ENSG00000198821		0.688	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD247	HGNC	protein_coding	OTTHUMT00000083707.1		0.00	19	0	-	NM_198053		167404210	-1	tier1		no_errors	ENST00000483825	ensembl	human	known	74_37	rna	17.39	19	4	INS	0.000:0.000	T
CDC73	79577	genome.wustl.edu	37	1	193218912	193218912	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:193218912G>T	ENST00000367435.3	+	16	1654	c.1470G>T	c.(1468-1470)caG>caT	p.Q490H	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	490	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CAAATGTTCAGAAATGGGATG	0.368																																																	0													104.0	103.0	103.0					1																	193218912		2203	4300	6503	SO:0001583	missense	0			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1470G>T	1.37:g.193218912G>T	ENSP00000356405:p.Gln490His		A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.Q490H	ENST00000367435.3	37	c.1470	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571031	0.65765	.	.	ENSG00000134371	ENST00000367435	T	0.64438	-0.1	5.53	2.64	0.31445	.	0.000000	0.85682	D	0.000000	T	0.68879	0.3049	L	0.50333	1.59	0.58432	D	0.999996	D	0.64830	0.994	D	0.67103	0.949	T	0.65899	-0.6056	10	0.54805	T	0.06	-9.8959	8.5314	0.33337	0.2943:0.0:0.7057:0.0	.	490	Q6P1J9	CDC73_HUMAN	H	490	ENSP00000356405:Q490H	ENSP00000356405:Q490H	Q	+	3	2	CDC73	191485535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.474000	0.60203	0.285000	0.22329	0.591000	0.81541	CAG	CDC73	-	pfam_RNA_pol_access_fac_Cdc73	ENSG00000134371		0.368	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2		0.00	56	0	G	NM_024529		193218912	+1			no_errors	ENST00000367435	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
CDH22	64405	genome.wustl.edu	37	20	44815563	44815563	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr20:44815563C>A	ENST00000372262.3	-	8	1847	c.1447G>T	c.(1447-1449)Gca>Tca	p.A483S	CDH22_ENST00000537909.1_Missense_Mutation_p.A483S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	483	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A483T(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTTAGGGATGCCCGGGATAGC	0.547																																																	1	Substitution - Missense(1)	ovary(1)											227.0	206.0	213.0					20																	44815563		2203	4300	6503	SO:0001583	missense	0			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1447G>T	20.37:g.44815563C>A	ENSP00000361336:p.Ala483Ser		B9EGK7|O43205	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A483S	ENST00000372262.3	37	c.1447	CCDS13395.1	20	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519832	0.44866	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.55588	0.51;0.51	4.12	4.12	0.48240	Cadherin (5);Cadherin-like (1);	0.505774	0.21808	N	0.068810	T	0.51669	0.1688	M	0.63169	1.94	0.29497	N	0.855219	B	0.10296	0.003	B	0.06405	0.002	T	0.56001	-0.8051	10	0.59425	D	0.04	.	15.5603	0.76240	0.0:1.0:0.0:0.0	.	483	Q9UJ99	CAD22_HUMAN	S	483	ENSP00000361336:A483S;ENSP00000437790:A483S	ENSP00000361336:A483S	A	-	1	0	CDH22	44248970	0.981000	0.34729	0.991000	0.47740	0.903000	0.53119	2.074000	0.41529	2.151000	0.67156	0.442000	0.29010	GCA	CDH22	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000149654		0.547	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1		0.00	38	0	C	NM_021248		44815563	-1			no_errors	ENST00000372262	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.996	A
CDH6	1004	genome.wustl.edu	37	5	31323263	31323263	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:31323263G>A	ENST00000265071.2	+	12	2486	c.2221G>A	c.(2221-2223)Gaa>Aaa	p.E741K		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	741					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E741K(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTACGCCTATGAAGGCACTGG	0.527																																																	2	Substitution - Missense(2)	ovary(1)|skin(1)											45.0	44.0	45.0					5																	31323263		2203	4300	6503	SO:0001583	missense	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2221G>A	5.37:g.31323263G>A	ENSP00000265071:p.Glu741Lys		A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E741K	ENST00000265071.2	37	c.2221	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.747362	0.96882	.	.	ENSG00000113361	ENST00000265071	D	0.87887	-2.31	5.66	5.66	0.87406	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.96488	0.8854	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97411	1.0002	10	0.87932	D	0	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	741	P55285	CADH6_HUMAN	K	741	ENSP00000265071:E741K	ENSP00000265071:E741K	E	+	1	0	CDH6	31359020	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	GAA	CDH6	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113361		0.527	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	-	0.00	33	0	G	NM_004932		31323263	+1	tier1	-	no_errors	ENST00000265071	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	A
CEACAM8	1088	genome.wustl.edu	37	19	43087409	43087409	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:43087409C>T	ENST00000244336.5	-	5	1140	c.1039G>A	c.(1039-1041)Gct>Act	p.A347T	CEACAM8_ENST00000599005.1_Missense_Mutation_p.A49T|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	347					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TATATCAGAGCCACCCTGGCC	0.488																																																	0													94.0	84.0	87.0					19																	43087409		2203	4300	6503	SO:0001583	missense	0			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.1039G>A	19.37:g.43087409C>T	ENSP00000244336:p.Ala347Thr		O60399|Q16574	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A347T	ENST00000244336.5	37	c.1039	CCDS12610.1	19	.	.	.	.	.	.	.	.	.	.	c	9.811	1.183236	0.21870	.	.	ENSG00000124469	ENST00000244336	T	0.20332	2.08	1.7	0.626	0.17670	.	.	.	.	.	T	0.28764	0.0713	M	0.73962	2.25	0.09310	N	1	D	0.53619	0.961	P	0.49637	0.617	T	0.15549	-1.0433	9	0.87932	D	0	.	4.3375	0.11094	0.0:0.7872:0.0:0.2128	.	347	P31997	CEAM8_HUMAN	T	347	ENSP00000244336:A347T	ENSP00000244336:A347T	A	-	1	0	CEACAM8	47779249	0.001000	0.12720	0.006000	0.13384	0.024000	0.10985	-0.035000	0.12205	0.291000	0.22468	-0.704000	0.03662	GCT	CEACAM8	-	NULL	ENSG00000124469		0.488	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM8	HGNC	protein_coding	OTTHUMT00000321430.1	-	0.00	38	0	C			43087409	-1	tier1	-	no_errors	ENST00000244336	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.007	T
CHD7	55636	genome.wustl.edu	37	8	61777889	61777889	+	Silent	SNP	C	C	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:61777889C>G	ENST00000423902.2	+	38	8870	c.8391C>G	c.(8389-8391)ccC>ccG	p.P2797P	CHD7_ENST00000524602.1_Silent_p.P748P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2797					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTGTGCTGCCCCTGATGCTGC	0.622																																																	0													28.0	29.0	29.0					8																	61777889		2021	4190	6211	SO:0001819	synonymous_variant	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8391C>G	8.37:g.61777889C>G			D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P2797	ENST00000423902.2	37	c.8391	CCDS47865.1	8																																																																																			CHD7	-	NULL	ENSG00000171316		0.622	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0.00	18	0	C	XM_098762		61777889	+1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	silent	35.29	11	6	SNP	1.000	G
CHPF2	54480	genome.wustl.edu	37	7	150935679	150935679	+	Missense_Mutation	SNP	G	G	A	rs578130308	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:150935679G>A	ENST00000035307.2	+	4	3744	c.2231G>A	c.(2230-2232)cGc>cAc	p.R744H	RP4-548D19.3_ENST00000607902.1_RNA|MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.R736H	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	744					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTCTACCACCGCTGCCGCCTC	0.642													G|||	3	0.000599042	0.0	0.0	5008	,	,		14037	0.0		0.0	False		,,,				2504	0.0031																0													24.0	24.0	24.0					7																	150935679		2202	4300	6502	SO:0001583	missense	0			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.2231G>A	7.37:g.150935679G>A	ENSP00000035307:p.Arg744His		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.R744H	ENST00000035307.2	37	c.2231	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893254	0.91889	.	.	ENSG00000033100	ENST00000495645;ENST00000035307	T;T	0.18338	2.22;2.22	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.83275	0.784;0.996	T	0.34976	-0.9807	10	0.52906	T	0.07	-18.1475	17.0841	0.86606	0.0:0.0:1.0:0.0	.	744;736	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	H	736;744	ENSP00000418914:R736H;ENSP00000035307:R744H	ENSP00000035307:R744H	R	+	2	0	CHPF2	150566612	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.492000	0.84095	0.655000	0.94253	CGC	CHPF2	-	pfam_Chond_GalNAc	ENSG00000033100		0.642	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2		0.00	24	0	G	NM_019015		150935679	+1			no_errors	ENST00000035307	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	A
CHRNB3	1142	genome.wustl.edu	37	8	42587155	42587155	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:42587155C>A	ENST00000289957.2	+	5	833	c.705C>A	c.(703-705)ttC>ttA	p.F235L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	235					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TGCCTTTATTCTATACCCTCT	0.458																																																	0													74.0	80.0	78.0					8																	42587155		2203	4300	6503	SO:0001583	missense	0			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.705C>A	8.37:g.42587155C>A	ENSP00000289957:p.Phe235Leu		Q15827	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F235L	ENST00000289957.2	37	c.705	CCDS6134.1	8	.	.	.	.	.	.	.	.	.	.	c	15.69	2.909424	0.52439	.	.	ENSG00000147432	ENST00000289957	T	0.76186	-1.0	5.72	0.0638	0.14350	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.83635	0.5297	M	0.84082	2.675	0.58432	D	0.999996	D	0.65815	0.995	D	0.66847	0.947	T	0.82514	-0.0419	10	0.87932	D	0	.	10.7613	0.46266	0.0:0.4377:0.0:0.5623	.	235	Q05901	ACHB3_HUMAN	L	235	ENSP00000289957:F235L	ENSP00000289957:F235L	F	+	3	2	CHRNB3	42706312	0.962000	0.33011	0.837000	0.33122	0.287000	0.27160	0.121000	0.15667	-0.307000	0.08804	-0.484000	0.04775	TTC	CHRNB3	-	superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000147432		0.458	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB3	HGNC	protein_coding	OTTHUMT00000383055.1	-	0.00	60	0	C			42587155	+1	tier1	-	no_errors	ENST00000289957	ensembl	human	known	74_37	missense	7.82	280	24	SNP	1.000	A
CLASP2	23122	genome.wustl.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:33602361delT	ENST00000468888.2	-	28	2939	c.2893delA	c.(2893-2895)atgfs	p.M965fs	CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000399362.4_Frame_Shift_Del_p.M964fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	745	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343																																																	0													188.0	194.0	192.0					3																	33602361		1841	4103	5944	SO:0001589	frameshift_variant	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2893delA	3.37:g.33602361delT	ENSP00000419974:p.Met965fs		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Frame_Shift_Del	DEL	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.M964fs	ENST00000468888.2	37	c.2890		3																																																																																			CLASP2	-	superfamily_ARM-type_fold	ENSG00000163539		0.343	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4		0.00	60	0	T	NM_001207044		33602361	-1	tier1		no_errors	ENST00000399362	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-
CHST13	166012	genome.wustl.edu	37	3	126261328	126261328	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:126261328C>T	ENST00000319340.2	+	3	983	c.933C>T	c.(931-933)atC>atT	p.I311I		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	311					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TCCGGGACATCAGCCCCTTCT	0.697																																																	0													8.0	9.0	9.0					3																	126261328		1769	3652	5421	SO:0001819	synonymous_variant	0			AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.933C>T	3.37:g.126261328C>T			Q3SYA3|Q3SYA5	Silent	SNP	pfam_Sulfotransferase	p.I311	ENST00000319340.2	37	c.933	CCDS3039.1	3																																																																																			CHST13	-	pfam_Sulfotransferase	ENSG00000180767		0.697	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST13	HGNC	protein_coding	OTTHUMT00000370201.2	-	0.00	23	0	C	NM_152889		126261328	+1	tier1	-	no_errors	ENST00000319340	ensembl	human	known	74_37	silent	12.77	41	6	SNP	1.000	T
CLK1	1195	genome.wustl.edu	37	2	201719347	201719347	+	Missense_Mutation	SNP	C	C	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:201719347C>G	ENST00000321356.4	-	11	1347	c.1212G>C	c.(1210-1212)caG>caC	p.Q404H	CLK1_ENST00000409769.2_Missense_Mutation_p.Q227H|CLK1_ENST00000434813.2_Missense_Mutation_p.Q446H	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	404	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACCTGGTTTTCTGTATCATAT	0.333																																																	0													190.0	196.0	194.0					2																	201719347		2203	4300	6503	SO:0001583	missense	0			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1212G>C	2.37:g.201719347C>G	ENSP00000326830:p.Gln404His		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q404H	ENST00000321356.4	37	c.1212	CCDS2331.1	2	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651048	0.29336	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.66460	-0.21;-0.21;-0.21	5.53	3.73	0.42828	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.158228	0.64402	D	0.000019	T	0.63954	0.2555	L	0.49778	1.585	0.49798	D	0.999827	B;B;B;B	0.31435	0.0;0.001;0.0;0.323	B;B;B;B	0.39876	0.017;0.006;0.006;0.312	T	0.58487	-0.7628	10	0.30078	T	0.28	.	11.8855	0.52600	0.0:0.8565:0.0:0.1435	.	446;374;404;227	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	H	404;374;227;446	ENSP00000326830:Q404H;ENSP00000386358:Q227H;ENSP00000394734:Q446H	ENSP00000326830:Q404H	Q	-	3	2	CLK1	201427592	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.514000	0.35834	0.810000	0.34279	0.563000	0.77884	CAG	CLK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000013441		0.333	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	-	0.00	47	0	C			201719347	-1	tier1	-	no_errors	ENST00000321356	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	G
CLTCL1	8218	genome.wustl.edu	37	22	19222152	19222152	+	Silent	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr22:19222152C>A	ENST00000263200.10	-	7	1119	c.1047G>T	c.(1045-1047)ctG>ctT	p.L349L	CLTCL1_ENST00000427926.1_Silent_p.L349L|CLTCL1_ENST00000353891.5_Silent_p.L349L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	349	Globular terminal domain.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CGGCCAAACGCAGACCAAGGT	0.468			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0													114.0	113.0	113.0					22																	19222152		1945	4144	6089	SO:0001819	synonymous_variant	0				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1047G>T	22.37:g.19222152C>A			B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.L349	ENST00000263200.10	37	c.1047	CCDS46662.1	22																																																																																			CLTCL1	-	pfam_Clathrin_H-chain_linker_core,superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.468	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	-	0.00	30	0	C	NM_007098		19222152	-1	tier1	-	no_errors	ENST00000263200	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	A
COBL	23242	genome.wustl.edu	37	7	51096641	51096641	+	Nonsense_Mutation	SNP	G	G	A	rs372919855		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:51096641G>A	ENST00000265136.7	-	10	2317	c.2152C>T	c.(2152-2154)Cga>Tga	p.R718*	COBL_ENST00000395542.2_Nonsense_Mutation_p.R800*	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	718					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.R718*(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCGTAACATCGCATCTCTGAC	0.507																																					NSCLC(189;2119 2138 12223 30818 34679)												1	Substitution - Nonsense(1)	large_intestine(1)						G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	99.0	106.0		2152	2.0	0.4	7		106	0,8600		0,0,4300	no	stop-gained	COBL	NM_015198.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		718/1262	51096641	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2152C>T	7.37:g.51096641G>A	ENSP00000265136:p.Arg718*		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Nonsense_Mutation	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R800*	ENST00000265136.7	37	c.2398	CCDS34637.1	7	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878423	0.91740	2.27E-4	0.0	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	.	.	.	5.83	2.05	0.26809	.	0.256704	0.28062	N	0.016752	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0117	0.58735	0.0:0.0:0.4063:0.5937	.	.	.	.	X	718;610;603;800	.	ENSP00000265136:R718X	R	-	1	2	COBL	51064135	0.731000	0.28111	0.371000	0.25978	0.392000	0.30506	1.452000	0.35156	0.102000	0.17638	-0.262000	0.10625	CGA	COBL	-	NULL	ENSG00000106078		0.507	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1		0.00	18	0	G	NM_015198		51096641	-1			no_errors	ENST00000395542	ensembl	human	known	74_37	nonsense	5.88	48	3	SNP	0.735	A
COL11A1	1301	genome.wustl.edu	37	1	103440440	103440440	+	Splice_Site	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:103440440C>A	ENST00000370096.3	-	36	3067		c.e36-1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.?(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTGAGGACCCTGGAAATAAA	0.383																																																	2	Unknown(2)	lung(2)											53.0	61.0	58.0					1																	103440440		2203	4300	6503	SO:0001630	splice_region_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2755-1G>T	1.37:g.103440440C>A			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	-	e36-1	ENST00000370096.3	37	c.2791-1	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025677	0.75390	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6337	0.88116	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103213028	1.000000	0.71417	0.993000	0.49108	0.788000	0.44548	7.124000	0.77185	2.503000	0.84419	0.585000	0.79938	.	COL11A1	-	-	ENSG00000060718		0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0.00	26	0	C	NM_080630	Intron	103440440	-1			no_errors	ENST00000358392	ensembl	human	known	74_37	splice_site	7.14	26	2	SNP	1.000	A
COL9A1	1297	genome.wustl.edu	37	6	70978510	70978510	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:70978510C>T	ENST00000357250.6	-	17	1442	c.1284G>A	c.(1282-1284)atG>atA	p.M428I	COL9A1_ENST00000370499.4_Missense_Mutation_p.M185I|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.M185I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	428	Collagen-like 4.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCTTACCCTCATGCCTGGTA	0.473																																																	0													95.0	96.0	96.0					6																	70978510		2203	4300	6503	SO:0001583	missense	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1284G>A	6.37:g.70978510C>T	ENSP00000349790:p.Met428Ile		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.M428I	ENST00000357250.6	37	c.1284	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657089	0.47467	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.93426	-3.06;-3.22;-3.06	5.54	5.54	0.83059	.	0.108034	0.85682	D	0.000000	T	0.76821	0.4041	N	0.03050	-0.425	0.54753	D	0.999989	B;B;B	0.29232	0.238;0.134;0.201	B;B;B	0.31245	0.126;0.027;0.055	T	0.77099	-0.2713	10	0.19147	T	0.46	.	16.4154	0.83732	0.0:1.0:0.0:0.0	.	428;185;1	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	I	428;185;185	ENSP00000349790:M428I;ENSP00000315252:M185I;ENSP00000359530:M185I	ENSP00000315252:M185I	M	-	3	0	COL9A1	71035231	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.854000	0.69503	2.598000	0.87819	0.650000	0.86243	ATG	COL9A1	-	pfam_Collagen	ENSG00000112280		0.473	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2		0.00	13	0	C			70978510	-1			no_errors	ENST00000357250	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T
COPE	11316	genome.wustl.edu	37	19	19030112	19030112	+	Missense_Mutation	SNP	C	C	T	rs201231121		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:19030112C>T	ENST00000262812.4	-	1	94	c.46G>A	c.(46-48)Gta>Ata	p.V16I	COPE_ENST00000351079.4_Missense_Mutation_p.V16I|DDX49_ENST00000438170.2_5'Flank|DDX49_ENST00000247003.4_5'Flank|AC002985.3_ENST00000596918.1_Intron|COPE_ENST00000600932.1_Missense_Mutation_p.V16I|COPE_ENST00000349893.4_Missense_Mutation_p.V16I	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	16					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						AGCTCGTCTACCTCCCCGGAG	0.657																																																	0													40.0	42.0	42.0					19																	19030112		2203	4300	6503	SO:0001583	missense	0			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.46G>A	19.37:g.19030112C>T	ENSP00000262812:p.Val16Ile		A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP	pfam_Coatomer_esu,pirsf_Coatomer_esu	p.V16I	ENST00000262812.4	37	c.46	CCDS12387.1	19	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831375	0.71258	.	.	ENSG00000105669	ENST00000262812;ENST00000351079;ENST00000349893;ENST00000538245	T;T;T	0.44083	0.93;0.93;0.93	5.66	5.66	0.87406	.	0.061993	0.64402	D	0.000005	T	0.49287	0.1548	L	0.53780	1.695	0.31117	N	0.709296	P;P;B;B	0.41848	0.763;0.727;0.394;0.394	P;P;B;B	0.49085	0.597;0.6;0.329;0.38	T	0.50709	-0.8796	10	0.24483	T	0.36	-31.4827	15.8551	0.78972	0.0:0.8644:0.1356:0.0	.	16;16;16;16	Q53HJ6;A6NE29;A6NKA3;O14579	.;.;.;COPE_HUMAN	I	16;16;16;15	ENSP00000262812:V16I;ENSP00000345674:V16I;ENSP00000343134:V16I	ENSP00000262812:V16I	V	-	1	0	COPE	18891112	0.998000	0.40836	0.920000	0.36463	0.419000	0.31324	4.293000	0.59037	2.679000	0.91253	0.563000	0.77884	GTA	COPE	-	pfam_Coatomer_esu,pirsf_Coatomer_esu	ENSG00000105669		0.657	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1		0.00	57	0	C	NM_007263		19030112	-1			no_errors	ENST00000262812	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.981	T
CRISP1	167	genome.wustl.edu	37	6	49825077	49825077	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:49825077C>T	ENST00000335847.4	-	2	138	c.37G>A	c.(37-39)Gct>Act	p.A13T	CRISP1_ENST00000536021.1_Missense_Mutation_p.A13T|CRISP1_ENST00000355791.2_Missense_Mutation_p.A13T|CRISP1_ENST00000507853.1_Missense_Mutation_p.A13T|CRISP1_ENST00000329411.5_Missense_Mutation_p.A13T|CRISP1_ENST00000505118.1_Missense_Mutation_p.A13T	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	13					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AGTAAGCAAGCAGCAGCAACC	0.318																																																	0													97.0	89.0	91.0					6																	49825077		2203	4300	6503	SO:0001583	missense	0			D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.37G>A	6.37:g.49825077C>T	ENSP00000338276:p.Ala13Thr		B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.A13T	ENST00000335847.4	37	c.37	CCDS4931.1	6	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636124	0.29068	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0;3.0	4.22	1.4	0.22301	CAP domain (1);	0.937041	0.08971	N	0.867196	T	0.06188	0.0160	L	0.53671	1.685	0.09310	N	1	D;P	0.57571	0.98;0.906	P;P	0.50617	0.646;0.521	T	0.26189	-1.0110	9	.	.	.	.	3.6276	0.08119	0.1957:0.5967:0.0:0.2077	.	13;13	P54107-2;P54107	.;CRIS1_HUMAN	T	13	ENSP00000425020:A13T;ENSP00000338276:A13T;ENSP00000348044:A13T;ENSP00000331317:A13T;ENSP00000427589:A13T;ENSP00000441798:A13T	.	A	-	1	0	CRISP1	49933036	0.000000	0.05858	0.002000	0.10522	0.250000	0.25880	-0.154000	0.10130	0.304000	0.22809	-0.150000	0.13652	GCT	CRISP1	-	superfamily_CAP_domain	ENSG00000124812		0.318	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISP1	HGNC	protein_coding	OTTHUMT00000040875.2	-	0.00	27	0	C	NM_001131		49825077	-1	tier1	-	no_errors	ENST00000335847	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.002	T
CSHL1	1444	genome.wustl.edu	37	17	61987321	61987321	+	Intron	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:61987321C>T	ENST00000309894.5	-	5	471				CSHL1_ENST00000450719.3_Silent_p.G130G|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Silent_p.G141G|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1							extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						ACTGTTCCCTCCCTCTCTCAT	0.537																																																	0																																										SO:0001627	intron_variant	0			BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.472-53G>A	17.37:g.61987321C>T			D3DU26|D3DU27|Q0VDB2	Silent	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core	p.G141	ENST00000309894.5	37	c.423	CCDS11652.1	17																																																																																			CSHL1	-	NULL	ENSG00000204414		0.537	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	CSHL1	HGNC	protein_coding	OTTHUMT00000444557.1	-	0.00	104	0	C	NM_022579		61987321	-1	tier1	-	no_errors	ENST00000561003	ensembl	human	novel	74_37	silent	11.29	110	14	SNP	0.005	T
CXADRP3	440224	genome.wustl.edu	37	18	14478264	14478264	+	lincRNA	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:14478264G>A	ENST00000581457.1	-	0	1644					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		AGGTGGGAGAGTTGGACTCTG	0.488																																																	0																																												0					18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478264G>A				RNA	SNP	-	NULL	ENST00000581457.1	37	NULL		18																																																																																			CXADRP3	-	-	ENSG00000265766		0.488	CXADRP3-001	KNOWN	basic	lincRNA	CXADRP3	HGNC	lincRNA	OTTHUMT00000443008.1		0.00	42	0	G	NR_024076		14478264	-1			no_errors	ENST00000581457	ensembl	human	known	74_37	rna	6.06	62	4	SNP	0.687	A
CYP4Z2P	163720	genome.wustl.edu	37	1	47325354	47325354	+	RNA	SNP	G	G	A	rs4660360		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:47325354G>A	ENST00000505841.1	-	0	1175					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CATCTGGAAAGGTAATGGGTT	0.438																																																	0																																												0			AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325354G>A			Q66ZJ5	RNA	SNP	-	NULL	ENST00000505841.1	37	NULL		1																																																																																			CYP4Z2P	-	-	ENSG00000154198		0.438	CYP4Z2P-002	KNOWN	basic	processed_transcript	CYP4Z2P	HGNC	pseudogene	OTTHUMT00000361094.1		0.00	38	0	G	NR_002788		47325354	-1			no_errors	ENST00000505841	ensembl	human	known	74_37	rna	6.98	40	3	SNP	0.965	A
CYP4Z1	199974	genome.wustl.edu	37	1	47534433	47534433	+	Missense_Mutation	SNP	A	A	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:47534433A>G	ENST00000334194.3	+	2	320	c.317A>G	c.(316-318)cAa>cGa	p.Q106R		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	106						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CTGAAAAGACAAGGTAAAAAC	0.478																																																	0													116.0	106.0	109.0					1																	47534433		2203	4300	6503	SO:0001583	missense	0			AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.317A>G	1.37:g.47534433A>G	ENSP00000334246:p.Gln106Arg		Q5VVE4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.Q106R	ENST00000334194.3	37	c.317	CCDS545.1	1	.	.	.	.	.	.	.	.	.	.	A	9.171	1.021177	0.19433	.	.	ENSG00000186160	ENST00000334194	T	0.67865	-0.29	2.83	-0.933	0.10431	.	0.646126	0.12033	U	0.505764	T	0.42675	0.1213	N	0.13327	0.33	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25012	-1.0144	10	0.48119	T	0.1	.	4.647	0.12577	0.4641:0.3471:0.1887:0.0	.	106	Q86W10	CP4Z1_HUMAN	R	106	ENSP00000334246:Q106R	ENSP00000334246:Q106R	Q	+	2	0	CYP4Z1	47307020	0.980000	0.34600	0.208000	0.23602	0.092000	0.18411	-0.151000	0.10175	0.016000	0.14998	0.373000	0.22412	CAA	CYP4Z1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186160		0.478	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4Z1	HGNC	protein_coding	OTTHUMT00000022020.1	-	0.00	119	0	A	NM_178134		47534433	+1	tier1	-	no_errors	ENST00000334194	ensembl	human	known	74_37	missense	5.26	90	5	SNP	0.447	G
DACT2	168002	genome.wustl.edu	37	6	168709234	168709234	+	Silent	SNP	G	G	A	rs142218608|rs542050052	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:168709234G>A	ENST00000366795.3	-	4	1291	c.1203C>T	c.(1201-1203)ggC>ggT	p.G401G	DACT2_ENST00000610183.1_Silent_p.G231G|DACT2_ENST00000607983.1_5'UTR|DACT2_ENST00000366796.3_Intron	NM_214462.3	NP_999627.2	Q5SW24	DACT2_HUMAN	dishevelled-binding antagonist of beta-catenin 2	401					epithelial cell morphogenesis (GO:0003382)|hematopoietic progenitor cell differentiation (GO:0002244)|inner medullary collecting duct development (GO:0072061)|negative regulation of cell adhesion (GO:0007162)|negative regulation of nodal signaling pathway (GO:1900108)|skin development (GO:0043588)	mitochondrion (GO:0005739)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)|transcription factor binding (GO:0008134)			endometrium(1)	1		Breast(66;1.46e-05)|Ovarian(120;0.0728)		OV - Ovarian serous cystadenocarcinoma(33;5.33e-21)|BRCA - Breast invasive adenocarcinoma(81;1.18e-06)|GBM - Glioblastoma multiforme(31;0.000957)		GCTGGGGCCCGCCCCTGCCGG	0.682													G|||	4	0.000798722	0.0	0.0	5008	,	,		15024	0.0		0.0	False		,,,				2504	0.0041																0													27.0	31.0	30.0					6																	168709234		692	1590	2282	SO:0001819	synonymous_variant	0			AF318336	CCDS47519.1, CCDS69241.1, CCDS75554.1	6q27	2013-05-15	2013-05-15	2003-09-17	ENSG00000164488	ENSG00000164488			21231	protein-coding gene	gene with protein product		608966	"""chromosome 6 open reading frame 116"", ""dapper homolog 2, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)"""	C6orf116			Standard	NM_001286351		Approved	bA503C24.7, DAPPER2	uc003qwq.3	Q5SW24	OTTHUMG00000016046	ENST00000366795.3:c.1203C>T	6.37:g.168709234G>A			Q2NKJ2|Q569G0|Q8WYW2	Silent	SNP	NULL	p.G401	ENST00000366795.3	37	c.1203	CCDS47519.1	6																																																																																			DACT2	-	NULL	ENSG00000164488		0.682	DACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DACT2	HGNC	protein_coding	OTTHUMT00000043193.1		0.00	44	0	G			168709234	-1			no_errors	ENST00000366795	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.000	A
DDX58	23586	genome.wustl.edu	37	9	32459470	32459470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:32459470G>A	ENST00000379883.2	-	17	2537	c.2380C>T	c.(2380-2382)Caa>Taa	p.Q794*	DDX58_ENST00000379882.1_Nonsense_Mutation_p.Q749*|DDX58_ENST00000542096.1_Nonsense_Mutation_p.Q723*|DDX58_ENST00000379868.1_Nonsense_Mutation_p.Q591*	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	794	Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GGTTTTTCTTGACTATCTCTG	0.353																																																	0													180.0	159.0	166.0					9																	32459470		2203	4300	6503	SO:0001587	stop_gained	0			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2380C>T	9.37:g.32459470G>A	ENSP00000369213:p.Gln794*		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Nonsense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q794*	ENST00000379883.2	37	c.2380	CCDS6526.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.424942	0.98806	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	.	.	.	4.79	0.514	0.17007	.	0.574478	0.15222	N	0.273881	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-6.9212	2.3205	0.04209	0.1829:0.153:0.5072:0.1569	.	.	.	.	X	749;794;591;723	.	ENSP00000369197:Q591X	Q	-	1	0	DDX58	32449470	0.057000	0.20700	0.069000	0.20011	0.144000	0.21451	0.192000	0.17096	0.529000	0.28599	0.655000	0.94253	CAA	DDX58	-	superfamily_P-loop_NTPase	ENSG00000107201		0.353	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX58	HGNC	protein_coding	OTTHUMT00000052011.1	-	0.00	96	0	G	NM_014314		32459470	-1	tier1	-	no_errors	ENST00000379883	ensembl	human	known	74_37	nonsense	76.38	59	194	SNP	0.141	A
DMKN	93099	genome.wustl.edu	37	19	35994206	35994206	+	Intron	DEL	T	T	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:35994206delT	ENST00000339686.3	-	10	1311				DMKN_ENST00000472252.2_Intron|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000462126.1_Intron|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000474928.1_3'UTR|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000447113.2_3'UTR|DMKN_ENST00000408915.2_5'Flank|DMKN_ENST00000414866.2_Intron|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000488892.1_3'UTR|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000467637.1_Intron|DMKN_ENST00000461300.1_3'UTR|DMKN_ENST00000443640.1_Intron|DMKN_ENST00000402589.2_Intron|DMKN_ENST00000602781.1_Intron	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGCCAGGAGTGTGGGGCAGC	0.577																																																	0																																										SO:0001627	intron_variant	0			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1135-418A>-	19.37:g.35994206delT			A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	RNA	DEL	-	NULL	ENST00000339686.3	37	NULL	CCDS12463.1	19																																																																																			DMKN	-	-	ENSG00000161249		0.577	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2		0.00	97	0	T	NM_033317		35994206	-1	tier1		no_errors	ENST00000474992	ensembl	human	known	74_37	rna	28.21	84	33	DEL	0.001	-
DNAH3	55567	genome.wustl.edu	37	16	21139069	21139069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:21139069G>A	ENST00000261383.3	-	8	1146	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.Q383*|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	383	Stem. {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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAAAATTCCTGAGGCTGCAGA	0.483																																																	0													138.0	132.0	134.0					16																	21139069		2201	4300	6501	SO:0001587	stop_gained	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1147C>T	16.37:g.21139069G>A	ENSP00000261383:p.Gln383*		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.Q383*	ENST00000261383.3	37	c.1147	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215448	0.79352	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	.	.	.	5.57	-1.7	0.08159	.	1.399080	0.04537	N	0.387389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	3.3886	0.07281	0.0817:0.3528:0.2477:0.3178	.	.	.	.	X	383;383;354	.	ENSP00000261383:Q383X	Q	-	1	0	DNAH3	21046570	0.003000	0.15002	0.740000	0.30986	0.834000	0.47266	-0.132000	0.10467	0.243000	0.21327	0.563000	0.77884	CAG	DNAH3	-	NULL	ENSG00000158486		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0.00	56	0	G	NM_017539		21139069	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	nonsense	18.37	39	9	SNP	0.030	A
DNAH9	1770	genome.wustl.edu	37	17	11622754	11622754	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:11622754G>A	ENST00000262442.4	+	27	5724	c.5656G>A	c.(5656-5658)Gca>Aca	p.A1886T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A1886T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1886	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTGGGCCGCGCACTGGGCAT	0.622																																																	0													95.0	86.0	89.0					17																	11622754		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5656G>A	17.37:g.11622754G>A	ENSP00000262442:p.Ala1886Thr		A2VCQ8|O15064|O95494|Q9NQ28	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,smart_AAA+_ATPase	p.A1886T	ENST00000262442.4	37	c.5656	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007829	0.93287	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.14022	2.54;2.54	5.19	5.19	0.71726	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.51276	-0.8726	10	0.87932	D	0	.	18.7098	0.91652	0.0:0.0:1.0:0.0	.	1886	Q9NYC9	DYH9_HUMAN	T	1886;1886;468	ENSP00000262442:A1886T;ENSP00000414874:A1886T	ENSP00000262442:A1886T	A	+	1	0	DNAH9	11563479	1.000000	0.71417	0.463000	0.27130	0.733000	0.41908	7.637000	0.83313	2.433000	0.82419	0.555000	0.69702	GCA	DNAH9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000007174		0.622	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0.00	45	0	G	NM_001372		11622754	+1			no_errors	ENST00000262442	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A
DNAJB8	165721	genome.wustl.edu	37	3	128181534	128181534	+	Silent	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:128181534G>A	ENST00000469083.1	-	2	3112	c.555C>T	c.(553-555)tcC>tcT	p.S185S	DNAJB8_ENST00000319153.3_Silent_p.S185S|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	185	Ser-rich.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCATCTCGGTGGACGACATCA	0.627																																																	0													117.0	102.0	107.0					3																	128181534		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.555C>T	3.37:g.128181534G>A			B3KWV7	Silent	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.S185	ENST00000469083.1	37	c.555	CCDS3048.1	3																																																																																			DNAJB8	-	NULL	ENSG00000179407		0.627	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJB8	HGNC	protein_coding	OTTHUMT00000356933.1	-	0.00	38	0	G	NM_153330		128181534	-1	tier1	-	no_errors	ENST00000319153	ensembl	human	known	74_37	silent	14.08	61	10	SNP	0.997	A
DNAJC15	29103	genome.wustl.edu	37	13	43659934	43659934	+	Silent	SNP	A	A	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr13:43659934A>G	ENST00000379221.2	+	5	766	c.342A>G	c.(340-342)acA>acG	p.T114T		NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	114	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		AGATTAGAACAGCTCATAGGA	0.318																																																	0													78.0	78.0	78.0					13																	43659934		2203	4299	6502	SO:0001819	synonymous_variant	0			AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"""Heat shock proteins / DNAJ (HSP40)"""	20325	protein-coding gene	gene with protein product		615339	"""DnaJ (Hsp40) homolog, subfamily D, member 1"""	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.342A>G	13.37:g.43659934A>G			B2R4L0|Q5T219|Q6X963	Silent	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain	p.T114	ENST00000379221.2	37	c.342	CCDS9388.1	13																																																																																			DNAJC15	-	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain	ENSG00000120675		0.318	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC15	HGNC	protein_coding	OTTHUMT00000044709.2	-	0.00	24	0	A	NM_013238		43659934	+1	tier1	-	no_errors	ENST00000379221	ensembl	human	known	74_37	silent	18.18	18	4	SNP	1.000	G
DPY19L2P2	349152	genome.wustl.edu	37	7	102920598	102920598	+	RNA	SNP	A	A	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:102920598A>G	ENST00000312132.4	-	0	259							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TTGTTTCTTCATAATTCCTAG	0.632																																																	0																																												0			AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102920598A>G			Q8N9V4|Q8ND62	RNA	SNP	-	NULL	ENST00000312132.4	37	NULL		7																																																																																			DPY19L2P2	-	-	ENSG00000170629		0.632	DPY19L2P2-002	KNOWN	basic	processed_transcript	DPY19L2P2	HGNC	pseudogene	OTTHUMT00000347877.1	-	0.00	43	0	A	NM_182634		102920598	-1	tier1	-	no_errors	ENST00000312132	ensembl	human	known	74_37	rna	23.68	29	9	SNP	0.504	G
DSC3	1825	genome.wustl.edu	37	18	28604445	28604445	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:28604445C>T	ENST00000360428.4	-	6	725	c.645G>A	c.(643-645)gcG>gcA	p.A215A	DSC3_ENST00000434452.1_Silent_p.A215A	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	215	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTGCAGTTGACGCATAAGCAA	0.413																																																	0													60.0	63.0	62.0					18																	28604445		2203	4300	6503	SO:0001819	synonymous_variant	0			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.645G>A	18.37:g.28604445C>T			A6NN35|Q14200|Q9HAZ9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin	p.A215	ENST00000360428.4	37	c.645	CCDS32810.1	18																																																																																			DSC3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000134762		0.413	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	HGNC	protein_coding	OTTHUMT00000447384.1		0.00	22	0	C	NM_001941, NM_024423		28604445	-1			no_errors	ENST00000360428	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.001	T
EFCAB6	64800	genome.wustl.edu	37	22	44178174	44178174	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr22:44178174C>T	ENST00000262726.7	-	3	278	c.25G>A	c.(25-27)Gac>Aac	p.D9N	EFCAB6_ENST00000356087.4_5'UTR|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000358439.4_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTAAGCCAGTCTGGTATAATC	0.383																																																	0													188.0	173.0	178.0					22																	44178174		2203	4300	6503	SO:0001583	missense	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.25G>A	22.37:g.44178174C>T	ENSP00000262726:p.Asp9Asn		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.D9N	ENST00000262726.7	37	c.25	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043635	0.36085	.	.	ENSG00000186976	ENST00000262726	T	0.14640	2.49	4.47	-0.108	0.13588	.	0.709516	0.12154	N	0.494579	T	0.10508	0.0257	L	0.51422	1.61	0.09310	N	0.999995	B;B	0.17465	0.009;0.022	B;B	0.17098	0.016;0.017	T	0.34104	-0.9842	10	0.32370	T	0.25	-0.954	2.6553	0.05011	0.331:0.4149:0.1607:0.0934	.	9;9	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	N	9	ENSP00000262726:D9N	ENSP00000262726:D9N	D	-	1	0	EFCAB6	42509507	0.000000	0.05858	0.003000	0.11579	0.118000	0.20060	-0.018000	0.12568	-0.005000	0.14395	-0.181000	0.13052	GAC	EFCAB6	-	NULL	ENSG00000186976		0.383	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	-	0.00	57	0	C	NM_022785		44178174	-1	tier1	-	no_errors	ENST00000262726	ensembl	human	known	74_37	missense	24.62	49	16	SNP	0.001	T
EHBP1	23301	genome.wustl.edu	37	2	63220713	63220713	+	Missense_Mutation	SNP	C	C	T	rs148087793	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:63220713C>T	ENST00000263991.5	+	19	3477	c.2995C>T	c.(2995-2997)Cgt>Tgt	p.R999C	EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000431489.1_Missense_Mutation_p.R928C|EHBP1_ENST00000405015.3_Missense_Mutation_p.R928C|EHBP1_ENST00000354487.3_Missense_Mutation_p.R964C|EHBP1_ENST00000405289.1_Missense_Mutation_p.R964C	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	999						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AACAACAGAACGTTTTAGAAA	0.368													C|||	10	0.00199681	0.0068	0.0	5008	,	,		13186	0.0		0.0	False		,,,				2504	0.001																0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	10,4396	16.8+/-37.8	0,10,2193	75.0	73.0	74.0		2890,2782,2782,2995	4.1	1.0	2	dbSNP_134	74	0,8596		0,0,4298	yes	missense,missense,missense,missense	EHBP1	NM_001142614.1,NM_001142615.2,NM_001142616.1,NM_015252.3	180,180,180,180	0,10,6491	TT,TC,CC		0.0,0.227,0.0769	probably-damaging,probably-damaging,probably-damaging,probably-damaging	964/1197,928/1161,928/1161,999/1232	63220713	10,12992	2203	4298	6501	SO:0001583	missense	0			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2995C>T	2.37:g.63220713C>T	ENSP00000263991:p.Arg999Cys		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R999C	ENST00000263991.5	37	c.2995	CCDS1872.1	2	7|7	0.003205128205128205|0.003205128205128205	6|6	0.012195121951219513|0.012195121951219513	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	14.96|14.96	2.691877|2.691877	0.48097|0.48097	0.00227|0.00227	0.0|0.0	ENSG00000115504|ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289|ENST00000422032	T;T;T;T;T|.	0.75938|.	-0.89;-0.89;-0.95;-0.98;-0.98|.	5.92|5.92	4.07|4.07	0.47477|0.47477	.|.	0.121890|.	0.50627|.	D|.	0.000104|.	T|T	0.55625|0.55625	0.1932|0.1932	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.76494|.	0.999;0.994;0.998|.	P;P;P|.	0.61201|.	0.885;0.721;0.77|.	T|T	0.57177|0.57177	-0.7856|-0.7856	10|5	0.66056|.	D|.	0.02|.	.|.	13.0876|13.0876	0.59151|0.59151	0.1288:0.7477:0.1236:0.0|0.1288:0.7477:0.1236:0.0	.|.	964;928;999|.	Q8NDI1-2;Q8NDI1-3;Q8NDI1|.	.;.;EHBP1_HUMAN|.	C|M	928;928;999;964;964|158	ENSP00000384143:R928C;ENSP00000403783:R928C;ENSP00000263991:R999C;ENSP00000346482:R964C;ENSP00000385524:R964C|.	ENSP00000263991:R999C|.	R|T	+|+	1|2	0|0	EHBP1|EHBP1	63074217|63074217	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.807000|3.807000	0.55591|0.55591	0.784000|0.784000	0.33661|0.33661	0.650000|0.650000	0.86243|0.86243	CGT|ACG	EHBP1	-	NULL	ENSG00000115504		0.368	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1		0.00	11	0	C	NM_015252		63220713	+1			no_errors	ENST00000263991	ensembl	human	known	74_37	missense	12.50	14	2	SNP	1.000	T
ELAVL2	1993	genome.wustl.edu	37	9	23731092	23731092	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:23731092G>T	ENST00000397312.2	-	3	535	c.261C>A	c.(259-261)taC>taA	p.Y87*	ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.Y116*|ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.Y87*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.Y87*|ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.Y87*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	87	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGGGGTCAATGTAGTTCACAA	0.353																																																	0													133.0	113.0	120.0					9																	23731092		2203	4299	6502	SO:0001587	stop_gained	0			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.261C>A	9.37:g.23731092G>T	ENSP00000380479:p.Tyr87*		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.Y87*	ENST00000397312.2	37	c.261	CCDS6515.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.547402	0.98352	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7401	0.69448	0.0709:0.0:0.9291:0.0	.	.	.	.	X	87;87;87;87;87;115;87	.	ENSP00000223951:Y87X	Y	-	3	2	ELAVL2	23721092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.937000	0.40193	2.941000	0.99782	0.655000	0.94253	TAC	ELAVL2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF	ENSG00000107105		0.353	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	-	0.00	66	0	G	NM_004432		23731092	-1	tier1	-	no_errors	ENST00000380117	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	1.000	T
AC079603.1	0	genome.wustl.edu	37	12	43685366	43685366	+	RNA	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:43685366C>T	ENST00000401174.1	-	0	17																											attacttttgcatcaacctaa	0.388																																																	0																																												0																															12.37:g.43685366C>T				RNA	SNP	-	NULL	ENST00000401174.1	37	NULL		12																																																																																			AC079603.1	-	-	ENSG00000215993		0.388	AC079603.1-201	NOVEL	basic	miRNA	ENSG00000215993	Clone_based_ensembl_gene	miRNA		-	0.00	81	0	C			43685366	-1	tier1	-	no_errors	ENST00000401174	ensembl	human	novel	74_37	rna	42.86	44	33	SNP	0.001	T
AC023469.1	0	genome.wustl.edu	37	2	151857851	151857851	+	Silent	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:151857851G>A	ENST00000409243.1	-	5	351	c.267C>T	c.(265-267)ccC>ccT	p.P89P	AC023469.2_ENST00000425983.1_RNA																							ACTATGAAGCGGGCTGGTCTC	0.353																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000409243.1:c.267C>T	2.37:g.151857851G>A				Silent	SNP	NULL	p.P89	ENST00000409243.1	37	c.267		2																																																																																			AC023469.1	-	NULL	ENSG00000222031		0.353	AC023469.1-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000222031	Clone_based_vega_gene	protein_coding	OTTHUMT00000332405.1	-	0.00	92	0	G			151857851	-1	tier1	-	no_errors	ENST00000409243	ensembl	human	putative	74_37	silent	17.65	70	15	SNP	0.001	A
Unknown	0	genome.wustl.edu	37	13	47040077	47040077	+	IGR	SNP	A	A	G	rs7319803	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr13:47040077A>G								RP11-189B4.6 (6757 upstream) : LRCH1 (87225 downstream)																							gtccaaacgcagcccgggaac	0.532													.|||	1059	0.211462	0.149	0.2262	5008	,	,		12920	0.3998		0.1759	False		,,,				2504	0.1278																0																																										SO:0001628	intergenic_variant	0																															13.37:g.47040077A>G				RNA	SNP	-	NULL		37	NULL		13																																																																																			RP11-189B4.6	-	-	ENSG00000231817	0	0.532					ENSG00000231817	Clone_based_vega_gene			-	0.00	13	0	A			47040077	-1	tier1	rs7319803	no_errors	ENST00000594153	ensembl	human	known	74_37	rna	65.22	8	15	SNP	0.239	G
Unknown	0	genome.wustl.edu	37	13	47040087	47040087	+	IGR	SNP	C	C	A	rs74755458	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr13:47040087C>A								RP11-189B4.6 (6767 upstream) : LRCH1 (87215 downstream)																							agcccgggaacagaaagaaag	0.522													.|||	1083	0.216254	0.149	0.2277	5008	,	,		13366	0.3998		0.1769	False		,,,				2504	0.1503																0																																										SO:0001628	intergenic_variant	0																															13.37:g.47040087C>A				RNA	SNP	-	NULL		37	NULL		13																																																																																			RP11-189B4.6	-	-	ENSG00000231817	0	0.522					ENSG00000231817	Clone_based_vega_gene			-	0.00	13	0	C			47040087	-1	tier1	rs74755458	no_errors	ENST00000594153	ensembl	human	known	74_37	rna	66.67	7	14	SNP	0.060	A
RAB1B	81876	genome.wustl.edu	37	11	66039507	66039507	+	Intron	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:66039507G>A	ENST00000311481.6	+	3	234				RAB1B_ENST00000527397.1_Intron|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family						ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						GGCCAGCTGAGTGCTGGGAAT	0.577																																																	0																																										SO:0001627	intron_variant	0			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.88-121G>A	11.37:g.66039507G>A			A8K7S1	RNA	SNP	-	NULL	ENST00000311481.6	37	NULL	CCDS31613.1	11																																																																																			RP11-867G23.3	-	-	ENSG00000245156		0.577	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000245156	Clone_based_vega_gene	protein_coding	OTTHUMT00000391886.2	-	0.00	9	0	G	NM_030981		66039507	-1	tier1	-	no_errors	ENST00000501708	ensembl	human	known	74_37	rna	28.57	10	4	SNP	0.000	A
SALL1	6299	genome.wustl.edu	37	16	51183171	51183171	+	Intron	DEL	T	T	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:51183171delT	ENST00000251020.4	-	1	110				SALL1_ENST00000541611.1_Intron|AC009166.5_ENST00000570060.1_RNA|SALL1_ENST00000562674.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1						adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGCCGAGACTTTTTTTTTTT	0.318																																					GBM(103;1352 1446 1855 4775 8890)												0																																										SO:0001627	intron_variant	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.76+1905A>-	16.37:g.51183171delT			Q99881|Q9NSC3|Q9P1R0	RNA	DEL	-	NULL	ENST00000251020.4	37	NULL	CCDS10747.1	16																																																																																			AC009166.5	-	-	ENSG00000261238		0.318	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261238	Clone_based_vega_gene	protein_coding	OTTHUMT00000256883.2		0.00	9	0	T	NM_002968		51183171	+1	tier1		no_errors	ENST00000570060	ensembl	human	known	74_37	rna	30.77	9	4	DEL	0.007	-
LYRM9	201229	genome.wustl.edu	37	17	26206315	26206315	+	3'UTR	SNP	A	A	G	rs369671199		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:26206315A>G	ENST00000379103.3	-	0	709				LYRM9_ENST00000460380.2_3'UTR|LYRM9_ENST00000508862.1_3'UTR|RP11-138P22.1_ENST00000581901.1_RNA|RP1-66C13.4_ENST00000582441.1_Intron	NM_001076680.1	NP_001070148.1	A8MSI8	LYRM9_HUMAN	LYR motif containing 9																		GGAAGTGCAAACATAAAGGAT	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC018092	CCDS45631.1	17q11.2	2014-06-05	2012-10-23	2012-10-23	ENSG00000232859	ENSG00000232859		"""LYR motif containing"""	27314	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 108"""	C17orf108		12477932	Standard	NM_001076680		Approved	HSD24	uc002gzx.3	A8MSI8	OTTHUMG00000132829	ENST00000379103.3:c.*184T>C	17.37:g.26206315A>G			A6NJT7|Q6X7B8	RNA	SNP	-	NULL	ENST00000379103.3	37	NULL	CCDS45631.1	17																																																																																			RP11-138P22.1	-	-	ENSG00000266527		0.428	LYRM9-001	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000266527	Clone_based_vega_gene	protein_coding	OTTHUMT00000256294.3	-	0.00	10	0	A	NM_001076680		26206315	+1	tier1	-	no_errors	ENST00000581901	ensembl	human	known	74_37	rna	33.33	8	4	SNP	0.049	G
WASH6P	653440	genome.wustl.edu	37	X	155252801	155252801	+	RNA	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chrX:155252801G>A	ENST00000461007.1	+	0	1809				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CTGGGCCCCGGCATTGCCCCC	0.627																																																	0																																												0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252801G>A			A6NGF1|Q8N305	RNA	SNP	-	NULL	ENST00000461007.1	37	NULL		X	.	.	.	.	.	.	.	.	.	.	g	18.49	3.636214	0.67130	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.050191	0.85682	D	0.000000	T	0.49490	0.1560	.	.	.	0.09310	N	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.32613	-0.9900	8	0.27082	T	0.32	-19.1254	6.473	0.22020	2.0E-4:0.0:0.9998:0.0	.	269	Q6VEQ5	WASH2_HUMAN	D	282;251	.	ENSP00000285718:G251D	G	+	2	0	WASH6P	154905995	1.000000	0.71417	0.986000	0.45419	0.624000	0.37722	6.435000	0.73412	0.418000	0.25898	0.171000	0.16805	GGC	AJ271736.10	-	-	ENSG00000270726		0.627	WASH6P-016	KNOWN	basic	processed_transcript	ENSG00000270726	Clone_based_vega_gene	pseudogene	OTTHUMT00000058840.1		0.00	107	0	G	NG_008380		155252801	+1			no_errors	ENST00000285718	ensembl	human	known	74_37	rna	6.25	60	4	SNP	1.000	A
ERP44	23071	genome.wustl.edu	37	9	102744932	102744932	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:102744932delA	ENST00000262455.6	-	12	1382	c.1183delT	c.(1183-1185)tatfs	p.Y395fs		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	395					cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						GTATACCTATATTCACTGGGT	0.388																																																	0													102.0	94.0	97.0					9																	102744932		2203	4300	6503	SO:0001589	frameshift_variant	0			AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"""Protein disulfide isomerases"""	18311	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 10"""	609170	"""thioredoxin domain containing 4 (endoplasmic reticulum)"""	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.1183delT	9.37:g.102744932delA	ENSP00000262455:p.Tyr395fs		O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Frame_Shift_Del	DEL	pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold	p.Y395fs	ENST00000262455.6	37	c.1183	CCDS35082.1	9																																																																																			ERP44	-	NULL	ENSG00000023318		0.388	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP44	HGNC	protein_coding	OTTHUMT00000053402.1		0.00	26	0	A	XM_088476		102744932	-1	tier1		no_errors	ENST00000262455	ensembl	human	known	74_37	frame_shift_del	41.18	20	14	DEL	1.000	-
ESRRG	2104	genome.wustl.edu	37	1	216896593	216896593	+	Nonsense_Mutation	SNP	C	C	A	rs573749790		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:216896593C>A	ENST00000408911.3	-	1	202	c.49G>T	c.(49-51)Gag>Tag	p.E17*	ESRRG_ENST00000366937.1_5'UTR|ESRRG_ENST00000359162.2_Intron|ESRRG_ENST00000366940.2_Intron|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000391890.3_5'UTR|ESRRG_ENST00000487276.1_Intron|ESRRG_ENST00000361395.2_Intron|ESRRG_ENST00000493748.1_Intron|ESRRG_ENST00000366938.2_Intron|ESRRG_ENST00000361525.3_Intron|ESRRG_ENST00000360012.3_Intron|ESRRG_ENST00000493603.1_Intron	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	17					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TACTCTTCCTCGTAGTGCAGG	0.463																																																	0													94.0	91.0	92.0					1																	216896593		1885	4103	5988	SO:0001587	stop_gained	0			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.49G>T	1.37:g.216896593C>A	ENSP00000386171:p.Glu17*		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Nonsense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.E17*	ENST00000408911.3	37	c.49	CCDS41468.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.726800	0.98456	.	.	ENSG00000196482	ENST00000408911	.	.	.	5.45	5.45	0.79879	.	1.008970	0.07982	U	0.985729	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	18.869	0.92305	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000386171:E17X	E	-	1	0	ESRRG	214963216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.077000	0.76814	2.544000	0.85801	0.591000	0.81541	GAG	ESRRG	-	NULL	ENSG00000196482		0.463	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	-	0.00	34	0	C	NM_206595		216896593	-1	tier1	-	no_errors	ENST00000408911	ensembl	human	known	74_37	nonsense	34.21	25	13	SNP	1.000	A
FAM135A	57579	genome.wustl.edu	37	6	71245981	71245981	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:71245981G>T	ENST00000418814.2	+	19	4598	c.3984G>T	c.(3982-3984)ttG>ttT	p.L1328F	FAM135A_ENST00000370479.3_Missense_Mutation_p.L1115F|FAM135A_ENST00000505868.1_Missense_Mutation_p.L1328F|FAM135A_ENST00000457062.2_Missense_Mutation_p.L1115F|FAM135A_ENST00000505769.1_Missense_Mutation_p.L908F|FAM135A_ENST00000361499.3_Missense_Mutation_p.L1132F	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1328										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GACATTCGTTGGGCAATTTAA	0.328																																																	0													116.0	118.0	118.0					6																	71245981		2202	4299	6501	SO:0001583	missense	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3984G>T	6.37:g.71245981G>T	ENSP00000410768:p.Leu1328Phe		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.L1328F	ENST00000418814.2	37	c.3984	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459928	0.63401	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	5.51	3.71	0.42584	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.64402	D	0.000001	T	0.67562	0.2906	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.999;1.0;0.999;0.999	T	0.71457	-0.4587	10	0.72032	D	0.01	.	8.2297	0.31590	0.3085:0.0:0.6915:0.0	.	908;1328;1328;1132;1115	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	F	1328;1115;908;1115;1132;1328	ENSP00000410768:L1328F;ENSP00000359510:L1115F;ENSP00000423785:L908F;ENSP00000409201:L1115F;ENSP00000354913:L1132F;ENSP00000423307:L1328F	ENSP00000354913:L1132F	L	+	3	2	FAM135A	71302702	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	3.361000	0.52306	0.662000	0.31006	0.585000	0.79938	TTG	FAM135A	-	pfam_DUF676_lipase-like,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	ENSG00000082269		0.328	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2	-	0.00	47	0	G	NM_020819		71245981	+1	tier1	-	no_errors	ENST00000418814	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
FBXW4	6468	genome.wustl.edu	37	10	103386257	103386257	+	Intron	DEL	T	T	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:103386257delT	ENST00000331272.7	-	6	1389				FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4						cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CAGGCAtctcttttttttttg	0.532																																																	0																																										SO:0001627	intron_variant	0			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.771-1690A>-	10.37:g.103386257delT			Q5SVS1|Q96IM6	RNA	DEL	-	NULL	ENST00000331272.7	37	NULL	CCDS31271.1	10																																																																																			FBXW4	-	-	ENSG00000107829		0.532	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW4	HGNC	protein_coding	OTTHUMT00000049979.2		0.00	24	0	T	NM_022039		103386257	-1	tier1		no_errors	ENST00000470093	ensembl	human	known	74_37	rna	14.29	12	2	DEL	0.005	-
FMO3	2328	genome.wustl.edu	37	1	171086308	171086308	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:171086308G>T	ENST00000367755.4	+	9	1436	c.1325G>T	c.(1324-1326)gGg>gTg	p.G442V	FMO3_ENST00000538429.1_Missense_Mutation_p.G379V|FMO3_ENST00000392085.2_Missense_Mutation_p.G442V|FMO3_ENST00000542847.1_Missense_Mutation_p.G422V	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	442					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TCCTTCATTGGGGCAAAGCCC	0.473																																																	0													106.0	101.0	103.0					1																	171086308		2203	4300	6503	SO:0001583	missense	0			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1325G>T	1.37:g.171086308G>T	ENSP00000356729:p.Gly442Val		B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.G442V	ENST00000367755.4	37	c.1325	CCDS1292.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509729	0.85282	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.83492	0.5266	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.991;0.993	D	0.89531	0.3785	10	0.87932	D	0	-16.6308	18.6439	0.91404	0.0:0.0:1.0:0.0	.	379;422;442	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	V	442;442;422;379	ENSP00000356729:G442V;ENSP00000375935:G442V;ENSP00000444073:G422V;ENSP00000439500:G379V	ENSP00000356729:G442V	G	+	2	0	FMO3	169352932	1.000000	0.71417	0.958000	0.39756	0.884000	0.51177	9.864000	0.99589	2.464000	0.83262	0.655000	0.94253	GGG	FMO3	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_2	ENSG00000007933		0.473	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO3	HGNC	protein_coding	OTTHUMT00000086219.1		0.00	24	0	G	NM_006894		171086308	+1			no_errors	ENST00000367755	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
FSCN3	29999	genome.wustl.edu	37	7	127238588	127238589	+	Frame_Shift_Ins	INS	-	-	G	rs139747555		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:127238588_127238589insG	ENST00000265825.5	+	4	1279_1280	c.1060_1061insG	c.(1060-1062)aggfs	p.R354fs	FSCN3_ENST00000420086.2_Frame_Shift_Ins_p.R220fs	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	354						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCAGTCCTGCAGGGGGCGCTTC	0.594																																																	0																																										SO:0001589	frameshift_variant	0				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1065dupG	7.37:g.127238593_127238593dupG	ENSP00000265825:p.Arg354fs		A4D0Z2|A6NLL7|B2RA62|B4DU68	Frame_Shift_Ins	INS	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.R356fs	ENST00000265825.5	37	c.1060_1061	CCDS34746.1	7																																																																																			FSCN3	-	pfam_Fascin-domain,superfamily_Actin_cross-linking	ENSG00000106328		0.594	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN3	HGNC	protein_coding	OTTHUMT00000059256.2		0.00	23	0	-	NM_020369		127238589	+1	tier1		no_errors	ENST00000265825	ensembl	human	known	74_37	frame_shift_ins	6.67	28	2	INS	0.039:0.000	G
FSIP2	401024	genome.wustl.edu	37	2	186671724	186671724	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:186671724G>A	ENST00000424728.1	+	17	17691	c.17691G>A	c.(17689-17691)atG>atA	p.M5897I	FSIP2_ENST00000343098.5_Missense_Mutation_p.M5986I			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5897										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATAAAATGATGAGAAAACCTT	0.343																																																	0													59.0	57.0	58.0					2																	186671724		1850	4098	5948	SO:0001583	missense	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17691G>A	2.37:g.186671724G>A	ENSP00000401306:p.Met5897Ile		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.M5986I	ENST00000424728.1	37	c.17958		2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.786440	0.00628	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.39229	1.09;1.09	4.1	-0.0193	0.13960	.	1.927100	0.02751	N	0.117469	T	0.19685	0.0473	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.07102	-1.0790	8	0.27082	T	0.32	.	1.4279	0.02327	0.1724:0.1023:0.1814:0.5439	.	.	.	.	I	5986;5897	ENSP00000344403:M5986I;ENSP00000401306:M5897I	ENSP00000344403:M5986I	M	+	3	0	FSIP2	186379969	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.130000	0.15850	-0.141000	0.11374	-2.115000	0.00351	ATG	FSIP2	-	NULL	ENSG00000188738		0.343	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0.00	21	0	G	NM_173651		186671724	+1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.000	A
GBP1P1	400759	genome.wustl.edu	37	1	89885842	89885842	+	RNA	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:89885842C>T	ENST00000513638.1	+	0	382					NR_003133.2				guanylate binding protein 1, interferon-inducible pseudogene 1																		CATCCTAGTTCTGCTGGACAC	0.507																																																	0																																												0					1p22.2	2011-03-09			ENSG00000225492	ENSG00000225492			39561	pseudogene	pseudogene							Standard	NR_003133		Approved		uc009wcy.1		OTTHUMG00000010128		1.37:g.89885842C>T				RNA	SNP	-	NULL	ENST00000513638.1	37	NULL		1																																																																																			GBP1P1	-	-	ENSG00000225492		0.507	GBP1P1-002	KNOWN	basic	processed_transcript	GBP1P1	HGNC	pseudogene	OTTHUMT00000360073.1	-	0.00	53	0	C	NR_003133		89885842	+1	tier1	-	no_errors	ENST00000513638	ensembl	human	known	74_37	rna	23.08	30	9	SNP	1.000	T
GCC2	9648	genome.wustl.edu	37	2	109092295	109092295	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:109092295G>A	ENST00000309863.6	+	9	3763	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1017					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCAAGGAGCAGAAAGCTATAA	0.318																																																	0													37.0	41.0	40.0					2																	109092295		2202	4297	6499	SO:0001583	missense	0			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3049G>A	2.37:g.109092295G>A	ENSP00000307939:p.Glu1017Lys		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.E1017K	ENST00000309863.6	37	c.3049	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.290200	0.95546	.	.	ENSG00000135968	ENST00000309863	T	0.35973	1.28	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	M	0.67953	2.075	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.49652	-0.8917	10	0.26408	T	0.33	.	20.179	0.98193	0.0:0.0:1.0:0.0	.	1017	Q8IWJ2	GCC2_HUMAN	K	1017	ENSP00000307939:E1017K	ENSP00000307939:E1017K	E	+	1	0	GCC2	108458727	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.245000	0.89825	2.847000	0.97988	0.655000	0.94253	GAA	GCC2	-	NULL	ENSG00000135968		0.318	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	-	0.00	31	0	G	NM_014635		109092295	+1	tier1	-	no_errors	ENST00000309863	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	A
GLI3	2737	genome.wustl.edu	37	7	42018223	42018223	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:42018223G>A	ENST00000395925.3	-	11	1706	c.1622C>T	c.(1621-1623)aCg>aTg	p.T541M	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	541					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTTCTCGCCCGTGTGTCTTCT	0.512									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													115.0	103.0	107.0					7																	42018223		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1622C>T	7.37:g.42018223G>A	ENSP00000379258:p.Thr541Met		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T541M	ENST00000395925.3	37	c.1622	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	G	31	5.092032	0.94149	.	.	ENSG00000106571	ENST00000395925	D	0.91407	-2.84	5.84	5.84	0.93424	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95118	0.8244	10	0.87932	D	0	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	541	P10071	GLI3_HUMAN	M	541	ENSP00000379258:T541M	ENSP00000379258:T541M	T	-	2	0	GLI3	41984748	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	9.807000	0.99171	2.763000	0.94921	0.650000	0.86243	ACG	GLI3	-	pfscan_Znf_C2H2	ENSG00000106571		0.512	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0.00	47	0	G	NM_000168		42018223	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A
GLOD4	51031	genome.wustl.edu	37	17	679087	679087	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:679087C>A	ENST00000301328.5	-	5	402	c.379G>T	c.(379-381)Gaa>Taa	p.E127*	GLOD4_ENST00000536578.1_Nonsense_Mutation_p.E103*|GLOD4_ENST00000301329.6_Nonsense_Mutation_p.E112*			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	127						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AAAACACCTTCTGCAACTTCC	0.493																																																	0													97.0	96.0	96.0					17																	679087		2203	4300	6503	SO:0001587	stop_gained	0			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.379G>T	17.37:g.679087C>A	ENSP00000301328:p.Glu127*		D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Nonsense_Mutation	SNP	NULL	p.E127*	ENST00000301328.5	37	c.379		17	.	.	.	.	.	.	.	.	.	.	C	37	6.050240	0.97236	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	.	.	.	5.92	5.92	0.95590	.	0.423690	0.27986	N	0.017057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-14.7284	15.6857	0.77409	0.1372:0.8628:0.0:0.0	.	.	.	.	X	112;315;127;103	.	ENSP00000301328:E127X	E	-	1	0	GLOD4	625837	0.955000	0.32602	0.951000	0.38953	0.861000	0.49209	1.996000	0.40776	2.801000	0.96364	0.650000	0.86243	GAA	GLOD4	-	NULL	ENSG00000167699		0.493	GLOD4-005	KNOWN	basic	protein_coding	GLOD4	HGNC	protein_coding	OTTHUMT00000437190.1		0.00	48	0	C	NM_016080		679087	-1			no_errors	ENST00000301328	ensembl	human	known	74_37	nonsense	5.26	54	3	SNP	0.997	A
GOLGA8I	283796	genome.wustl.edu	37	15	23257105	23257105	+	Silent	SNP	G	G	A	rs200507088		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr15:23257105G>A	ENST00000450802.3	+	2	194	c.96G>A	c.(94-96)gcG>gcA	p.A32A		NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1	NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1	A6NC78	GOG8I_HUMAN	golgin A8 family, member I	32						Golgi apparatus (GO:0005794)|membrane (GO:0016020)											CAGCAGGAGCGAACAGGAACA	0.507																																																	0																																										SO:0001819	synonymous_variant	0			AK093104		15q11.2	2013-01-17	2012-10-05	2012-10-05	ENSG00000153666	ENSG00000277561			26660	other	unknown	"""FLJ35785"""		"""golgi autoantigen, golgin subfamily a, 9 pseudogene"", ""golgin A9, pseudogene"", ""golgin A8 family, member I, pseudogene"""	GOLGA9P, GOLGA8IP			Standard	NR_024074		Approved	FLJ35785	uc001yvh.1	A6NC78	OTTHUMG00000129149	ENST00000450802.3:c.96G>A	15.37:g.23257105G>A				Silent	SNP	NULL	p.A32	ENST00000450802.3	37	c.96		15																																																																																			GOLGA8I	-	NULL	ENSG00000153666		0.507	GOLGA8I-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	GOLGA8I	HGNC	protein_coding	OTTHUMT00000251213.2	-	0.00	39	0	G	NR_024074		23257105	+1	tier1	rs200507088	no_errors	ENST00000450802	ensembl	human	known	74_37	silent	30.00	7	3	SNP	0.127	A
GREB1	9687	genome.wustl.edu	37	2	11742612	11742612	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:11742612C>T	ENST00000381486.2	+	17	2910	c.2610C>T	c.(2608-2610)ctC>ctT	p.L870L	GREB1_ENST00000234142.5_Silent_p.L870L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	870						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GACACAGCCTCCCCTTGCTCA	0.433																																					Ovarian(39;850 945 2785 23371 33093)												0													212.0	211.0	211.0					2																	11742612		1952	4164	6116	SO:0001819	synonymous_variant	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2610C>T	2.37:g.11742612C>T			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	superfamily_P-loop_NTPase	p.L870	ENST00000381486.2	37	c.2610	CCDS42655.1	2																																																																																			GREB1	-	NULL	ENSG00000196208		0.433	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0.00	86	0	C	NM_014668		11742612	+1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	silent	17.39	94	20	SNP	0.890	T
GRIA4	2893	genome.wustl.edu	37	11	105804513	105804513	+	Missense_Mutation	SNP	C	C	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:105804513C>G	ENST00000530497.1	+	13	2112	c.2112C>G	c.(2110-2112)ttC>ttG	p.F704L	AP000673.1_ENST00000583628.1_RNA|GRIA4_ENST00000525187.1_Missense_Mutation_p.F704L|GRIA4_ENST00000282499.5_Missense_Mutation_p.F704L|GRIA4_ENST00000393127.2_Missense_Mutation_p.F704L			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	704					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)		CATCAGTATTCACTAGGACTA	0.413																																																	0													63.0	58.0	60.0					11																	105804513		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.2112C>G	11.37:g.105804513C>G	ENSP00000435775:p.Phe704Leu		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.F704L	ENST00000530497.1	37	c.2112	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896452	0.72639	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187;ENST00000539249	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.51	5.51	0.81932	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	T	0.51958	0.1705	L	0.39514	1.22	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.79108	0.99;0.992	T	0.33033	-0.9884	10	0.23891	T	0.37	.	19.4254	0.94740	0.0:1.0:0.0:0.0	.	704;704	P48058;G3V164	GRIA4_HUMAN;.	L	704;704;704;704;9	ENSP00000282499:F704L;ENSP00000376835:F704L;ENSP00000435775:F704L;ENSP00000432180:F704L	ENSP00000282499:F704L	F	+	3	2	GRIA4	105309723	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.456000	0.44997	2.595000	0.87683	0.591000	0.81541	TTC	GRIA4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000152578		0.413	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1		0.00	38	0	C			105804513	+1			no_errors	ENST00000282499	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	G
GRIP1	23426	genome.wustl.edu	37	12	66932939	66932939	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:66932939G>A	ENST00000398016.3	-	4	405	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	GRIP1_ENST00000359742.4_Missense_Mutation_p.R113C|GRIP1_ENST00000286445.7_Missense_Mutation_p.R113C	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	158	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCGTCATGGCGGAATTTGGCC	0.483																																																	0													217.0	207.0	210.0					12																	66932939		1981	4159	6140	SO:0001583	missense	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.337C>T	12.37:g.66932939G>A	ENSP00000381098:p.Arg113Cys		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R113C	ENST00000398016.3	37	c.337	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744765	0.69418	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309;ENST00000539540;ENST00000541947	T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	4.55	4.55	0.56014	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.99	T	0.64283	-0.6444	9	.	.	.	-11.7089	17.7295	0.88373	0.0:0.0:1.0:0.0	.	113;113;113	F5H4N6;Q9Y3R0;Q9Y3R0-3	.;GRIP1_HUMAN;.	C	113;113;113;113;57;57;86;57;57;139	ENSP00000381098:R113C;ENSP00000352780:R113C;ENSP00000286445:R113C;ENSP00000446047:R113C;ENSP00000446024:R57C;ENSP00000446011:R57C;ENSP00000439124:R86C;ENSP00000438500:R57C;ENSP00000443392:R57C;ENSP00000438921:R139C	.	R	-	1	0	GRIP1	65219206	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.407000	0.66363	2.263000	0.75096	0.467000	0.42956	CGC	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000155974		0.483	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	-	0.00	53	0	G			66932939	-1	tier1	-	no_errors	ENST00000359742	ensembl	human	known	74_37	missense	6.80	96	7	SNP	1.000	A
HAUS6	54801	genome.wustl.edu	37	9	19096745	19096745	+	Missense_Mutation	SNP	G	G	T	rs539387980		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:19096745G>T	ENST00000380502.3	-	2	618	c.151C>A	c.(151-153)Cgt>Agt	p.R51S		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	51					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.R51C(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAGGCATCACGGTTCAGCTTG	0.299																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)											46.0	51.0	49.0					9																	19096745		2203	4298	6501	SO:0001583	missense	0			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.151C>A	9.37:g.19096745G>T	ENSP00000369871:p.Arg51Ser		B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.R51S	ENST00000380502.3	37	c.151	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287203	0.40494	.	.	ENSG00000147874	ENST00000380502	T	0.22539	1.95	5.25	4.23	0.50019	.	0.265582	0.41712	D	0.000830	T	0.20251	0.0487	M	0.68317	2.08	0.80722	D	1	B	0.29766	0.256	B	0.29785	0.107	T	0.04767	-1.0928	10	0.36615	T	0.2	-12.1386	5.8937	0.18927	0.095:0.0:0.5835:0.3215	.	51	Q7Z4H7	HAUS6_HUMAN	S	51	ENSP00000369871:R51S	ENSP00000369871:R51S	R	-	1	0	HAUS6	19086745	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.368000	0.59505	2.604000	0.88044	0.650000	0.86243	CGT	HAUS6	-	NULL	ENSG00000147874		0.299	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1		0.00	70	0	G	NM_017645		19096745	-1			no_errors	ENST00000380502	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
HBB	3043	genome.wustl.edu	37	11	5248189	5248189	+	Silent	SNP	C	C	A	rs67440443	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:5248189C>A	ENST00000335295.4	-	1	112	c.63G>T	c.(61-63)gtG>gtT	p.V21V	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	21			V -> M (in Olympia; O(2) affinity up; dbSNP:rs35890959).		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAACTTCATCCACGTTCACCT	0.512									Sickle Cell Trait																																								0													162.0	130.0	141.0					11																	5248189		2201	4298	6499	SO:0001819	synonymous_variant	0	Familial Cancer Database		J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.63G>T	11.37:g.5248189C>A			A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Silent	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	p.V21	ENST00000335295.4	37	c.63	CCDS7753.1	11																																																																																			HBB	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin	ENSG00000244734		0.512	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBB	HGNC	protein_coding	OTTHUMT00000142977.2	-	0.00	46	0	C	NM_000518		5248189	-1	tier1	-	no_errors	ENST00000335295	ensembl	human	known	74_37	silent	22.45	38	11	SNP	0.004	A
HDGF	3068	genome.wustl.edu	37	1	156714052	156714052	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:156714052C>T	ENST00000357325.5	-	4	706	c.392G>A	c.(391-393)gGc>gAc	p.G131D	HDGF_ENST00000537739.1_Missense_Mutation_p.G131D|HDGF_ENST00000368209.5_Missense_Mutation_p.G124D|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Missense_Mutation_p.G147D|HDGF_ENST00000416666.2_Missense_Mutation_p.G99D	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	131	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		GTCGCTGCTGCCCTCTGCATT	0.562																																																	0													448.0	385.0	407.0					1																	156714052		2203	4300	6503	SO:0001583	missense	0			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.392G>A	1.37:g.156714052C>T	ENSP00000349878:p.Gly131Asp		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	pfam_PWWP_dom	p.G147D	ENST00000357325.5	37	c.440	CCDS1156.1	1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831486	0.71258	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.32988	1.84;1.46;1.84;1.48;1.43	5.13	5.13	0.70059	.	0.068469	0.64402	U	0.000019	T	0.44787	0.1310	M	0.68593	2.085	0.37302	D	0.908748	D;P;D;D;D	0.89917	0.997;0.665;0.997;0.994;1.0	P;B;P;P;D	0.74674	0.895;0.128;0.895;0.852;0.984	T	0.39187	-0.9626	10	0.44086	T	0.13	-8.2067	16.115	0.81301	0.0:1.0:0.0:0.0	.	106;131;147;124;131	B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.;.;.;.;HDGF_HUMAN	D	131;124;131;99;147;154	ENSP00000349878:G131D;ENSP00000357192:G124D;ENSP00000443120:G131D;ENSP00000416752:G99D;ENSP00000357189:G147D	ENSP00000349878:G131D	G	-	2	0	HDGF	154980676	1.000000	0.71417	0.991000	0.47740	0.934000	0.57294	5.418000	0.66429	2.392000	0.81423	0.449000	0.29647	GGC	HDGF	-	NULL	ENSG00000143321		0.562	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGF	HGNC	protein_coding	OTTHUMT00000098946.1	-	0.00	48	0	C	NM_004494		156714052	-1	tier1	-	no_errors	ENST00000368206	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
HELLS	3070	genome.wustl.edu	37	10	96331163	96331163	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:96331163delA	ENST00000348459.5	+	7	559	c.454delA	c.(454-456)aaafs	p.K153fs	HELLS_ENST00000394045.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394044.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394036.1_Stop_Codon_Del|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Frame_Shift_Del_p.K153fs	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTCTGTGGCTAAAAAAAATAA	0.254																																																	0										26,4146		0,26,2060	39.0	45.0	43.0			1.2	1.0	10		43	22,8150		0,22,4064	no	frameshift	HELLS	NM_018063.3		0,48,6124	A1A1,A1R,RR		0.2692,0.6232,0.3889			96331163	48,12296	2162	4265	6427	SO:0001589	frameshift_variant	0			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.454delA	10.37:g.96331163delA	ENSP00000239027:p.Lys153fs			Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N154fs	ENST00000348459.5	37	c.454	CCDS7434.1	10																																																																																			HELLS	-	NULL	ENSG00000119969		0.254	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELLS	HGNC	protein_coding	OTTHUMT00000049475.1		0.00	55	0	A	NM_018063		96331163	+1	tier1		no_errors	ENST00000371332	ensembl	human	known	74_37	frame_shift_del	7.69	36	3	DEL	1.000	-
HEMGN	55363	genome.wustl.edu	37	9	100693387	100693387	+	Missense_Mutation	SNP	A	A	T	rs201990544|rs144965245	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:100693387A>T	ENST00000259456.3	-	4	433	c.290T>A	c.(289-291)gTg>gAg	p.V97E		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	97				IV -> M (in Ref. 6; AAH48324). {ECO:0000305}.	cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGCTTTCTCCACTATTTCCTT	0.453																																																	0													155.0	145.0	148.0					9																	100693387		2203	4300	6503	SO:0001583	missense	0			AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.290T>A	9.37:g.100693387A>T	ENSP00000259456:p.Val97Glu		Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	NULL	p.V97E	ENST00000259456.3	37	c.290	CCDS6731.1	9	.	.	.	.	.	.	.	.	.	.	A	13.52	2.261310	0.39995	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.84	-4.41	0.03590	.	1.461070	0.03758	N	0.257666	T	0.32852	0.0843	L	0.43152	1.355	0.09310	N	1	B	0.25169	0.119	B	0.26416	0.069	T	0.22347	-1.0219	9	0.24483	T	0.36	5.0038	8.1325	0.31035	0.3151:0.1522:0.5327:0.0	.	97	Q9BXL5	HEMGN_HUMAN	E	97	.	ENSP00000259456:V97E	V	-	2	0	HEMGN	99733208	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-0.376000	0.07465	-0.691000	0.05135	0.482000	0.46254	GTG	HEMGN	-	NULL	ENSG00000136929		0.453	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEMGN	HGNC	protein_coding	OTTHUMT00000053344.2		0.00	36	0	A	NM_197978		100693387	-1			no_errors	ENST00000259456	ensembl	human	known	74_37	missense	5.63	42	4	SNP	0.000	T
HIST1H3G	8355	genome.wustl.edu	37	6	26271561	26271561	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:26271561G>A	ENST00000305910.3	-	1	51	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	18					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						AGCTGCTTGCGCGGCGCTTTG	0.632																																																	0													26.0	31.0	29.0					6																	26271561		2199	4297	6496	SO:0001583	missense	0			Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.52C>T	6.37:g.26271561G>A	ENSP00000439660:p.Arg18Cys		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R18C	ENST00000305910.3	37	c.52	CCDS4602.1	6	.	.	.	.	.	.	.	.	.	.	.	11.39	1.624089	0.28889	.	.	ENSG00000256018	ENST00000305910	T	0.50001	0.76	4.56	4.56	0.56223	.	.	.	.	.	T	0.58581	0.2132	.	.	.	0.42822	D	0.993995	.	.	.	.	.	.	T	0.65524	-0.6147	6	0.87932	D	0	.	16.7227	0.85414	0.0:0.0:1.0:0.0	.	.	.	.	C	18	ENSP00000439660:R18C	ENSP00000439660:R18C	R	-	1	0	HIST1H3G	26379540	1.000000	0.71417	0.966000	0.40874	0.042000	0.13812	3.081000	0.50120	2.265000	0.75225	0.563000	0.77884	CGC	HIST1H3G	-	superfamily_Histone-fold,prints_Histone_H3	ENSG00000256018		0.632	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3G	HGNC	protein_coding	OTTHUMT00000040099.2	-	0.00	59	0	G	NM_003534		26271561	-1	tier1	-	no_errors	ENST00000305910	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.998	A
HK2	3099	genome.wustl.edu	37	2	75115128	75115128	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:75115128C>T	ENST00000290573.2	+	16	2918	c.2318C>T	c.(2317-2319)tCa>tTa	p.S773L	HK2_ENST00000409174.1_Missense_Mutation_p.S745L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	773	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GGCCGCATCTCAGAGCGGCTC	0.507																																																	0													130.0	119.0	123.0					2																	75115128		2203	4300	6503	SO:0001583	missense	0				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2318C>T	2.37:g.75115128C>T	ENSP00000290573:p.Ser773Leu		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.S773L	ENST00000290573.2	37	c.2318	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996286	0.93167	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98028	-4.67;-4.67	4.72	4.72	0.59763	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	M	0.72479	2.2	0.80722	D	1	D	0.65815	0.995	D	0.72075	0.976	D	0.98991	1.0808	10	0.87932	D	0	-4.4099	15.5668	0.76300	0.0:1.0:0.0:0.0	.	773	P52789	HXK2_HUMAN	L	773;773;745	ENSP00000290573:S773L;ENSP00000387140:S745L	ENSP00000290573:S773L	S	+	2	0	HK2	74968636	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.602000	0.82796	2.623000	0.88846	0.555000	0.69702	TCA	HK2	-	pfam_Hexokinase_C	ENSG00000159399		0.507	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	-	0.00	34	0	C	NM_000189		75115128	+1	tier1	-	no_errors	ENST00000290573	ensembl	human	known	74_37	missense	44.12	19	15	SNP	1.000	T
HMGN1	3150	genome.wustl.edu	37	21	40720242	40720242	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr21:40720242C>T	ENST00000380749.5	-	4	384	c.102G>A	c.(100-102)gcG>gcA	p.A34A	HMGN1_ENST00000380748.1_Silent_p.A24A|HMGN1_ENST00000489072.1_5'UTR|snoU13_ENST00000459446.1_RNA|HMGN1_ENST00000361263.4_5'Flank|HMGN1_ENST00000380747.1_Silent_p.A50A	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	34					chromatin organization (GO:0006325)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|post-embryonic camera-type eye morphogenesis (GO:0048597)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of development, heterochronic (GO:0040034)|regulation of epithelial cell proliferation (GO:0050678)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to UV-B (GO:0010224)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TTTTCGGCTTCGCTTCCACTT	0.562																																																	0													90.0	90.0	90.0					21																	40720242		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33559.1	21q22.3	2011-07-01	2011-04-05	2002-08-16	ENSG00000205581	ENSG00000205581		"""High-mobility group / Canonical"""	4984	protein-coding gene	gene with protein product	"""high-mobility group nucleosome binding 1"", ""nonhistone chromosomal protein HMG-14"""	163920	"""high-mobility group (nonhistone chromosomal) protein 14"", ""high-mobility group nucleosome binding domain 1"""	HMG14		3782107, 2563381	Standard	NM_004965		Approved	FLJ27265, FLJ31471, MGC104230, MGC117425	uc002yxo.3	P05114	OTTHUMG00000066178	ENST00000380749.5:c.102G>A	21.37:g.40720242C>T			Q3KQR8	Silent	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.A34	ENST00000380749.5	37	c.102	CCDS33559.1	21																																																																																			HMGN1	-	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	ENSG00000205581		0.562	HMGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN1	HGNC	protein_coding	OTTHUMT00000141645.2	-	0.00	31	0	C	NM_004965		40720242	-1	tier1	-	no_errors	ENST00000380749	ensembl	human	known	74_37	silent	59.09	9	13	SNP	0.759	T
HSP90AA1	3320	genome.wustl.edu	37	14	102552699	102552699	+	Missense_Mutation	SNP	T	T	A	rs372390355		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:102552699T>A	ENST00000216281.8	-	2	222	c.17A>T	c.(16-18)cAg>cTg	p.Q6L	HSP90AA1_ENST00000441629.2_5'Flank|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.Q128L	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	6					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GTCTTGGGTCTGGGTTTCCTC	0.493																																																	0													91.0	93.0	92.0					14																	102552699		2203	4300	6503	SO:0001583	missense	0			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.17A>T	14.37:g.102552699T>A	ENSP00000216281:p.Gln6Leu		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Nonsense_Mutation	SNP	NULL	p.R58*	ENST00000216281.8	37	c.172	CCDS9967.1	14	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053803	0.75960	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000553585	T;T;T	0.43688	2.26;2.26;0.94	3.79	3.79	0.43588	.	0.608060	0.15206	U	0.274738	T	0.42966	0.1226	M	0.71581	2.175	0.80722	D	1	B;B	0.30211	0.13;0.273	B;B	0.26416	0.021;0.069	T	0.45848	-0.9233	10	0.52906	T	0.07	.	12.8341	0.57763	0.0:0.0:0.0:1.0	.	128;6	P07900-2;P07900	.;HS90A_HUMAN	L	6;128;6	ENSP00000216281:Q6L;ENSP00000335153:Q128L;ENSP00000450712:Q6L	ENSP00000216281:Q6L	Q	-	2	0	HSP90AA1	101622452	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	2.862000	0.48388	1.500000	0.48636	0.467000	0.42956	CAG	HSP90AA1	-	NULL	ENSG00000080824		0.493	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	HGNC	protein_coding	OTTHUMT00000414952.2	-	0.00	22	0	T	NM_005348		102552699	-1	tier1	-	no_errors	ENST00000557234	ensembl	human	known	74_37	nonsense	40.62	19	13	SNP	1.000	A
HTT	3064	genome.wustl.edu	37	4	3134324	3134324	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:3134324G>A	ENST00000355072.5	+	17	2417	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	758					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAACTACATCGATCATGGAGA	0.488																																																	0													72.0	73.0	73.0					4																	3134324		1968	4168	6136	SO:0001583	missense	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2272G>A	4.37:g.3134324G>A	ENSP00000347184:p.Asp758Asn		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.D758N	ENST00000355072.5	37	c.2272	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039729	0.19669	.	.	ENSG00000197386	ENST00000355072	T	0.64085	-0.08	4.91	4.07	0.47477	Armadillo-like helical (1);Armadillo-type fold (1);	0.202905	0.50627	N	0.000103	T	0.37919	0.1021	N	0.16368	0.405	0.41209	D	0.98642	B	0.21452	0.056	B	0.10450	0.005	T	0.25433	-1.0132	10	0.02654	T	1	.	9.6033	0.39619	0.1609:0.0:0.8391:0.0	.	758	P42858	HD_HUMAN	N	758	ENSP00000347184:D758N	ENSP00000347184:D758N	D	+	1	0	HTT	3104122	1.000000	0.71417	0.908000	0.35775	0.948000	0.59901	4.427000	0.59888	1.199000	0.43173	0.655000	0.94253	GAT	HTT	-	superfamily_ARM-type_fold	ENSG00000197386		0.488	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	-	0.00	37	0	G	NM_002111		3134324	+1	tier1	-	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A
IFT122	55764	genome.wustl.edu	37	3	129195640	129195641	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:129195640_129195641insA	ENST00000348417.2	+	11	1220_1221	c.1143_1144insA	c.(1144-1146)aaafs	p.K382fs	IFT122_ENST00000504021.1_Frame_Shift_Ins_p.K276fs|IFT122_ENST00000347300.2_Frame_Shift_Ins_p.K323fs|IFT122_ENST00000296266.3_Frame_Shift_Ins_p.K433fs|IFT122_ENST00000431818.2_Frame_Shift_Ins_p.K232fs|IFT122_ENST00000349441.2_Frame_Shift_Ins_p.K271fs|IFT122_ENST00000440957.2_Frame_Shift_Ins_p.K173fs|IFT122_ENST00000507564.1_Frame_Shift_Ins_p.K374fs	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	382					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TCACTGAGCAGAAAGGTAAGAG	0.515																																																	0																																										SO:0001589	frameshift_variant	0			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1146dupA	3.37:g.129195643_129195643dupA	ENSP00000324005:p.Lys382fs		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V433fs	ENST00000348417.2	37	c.1296_1297	CCDS3061.1	3																																																																																			IFT122	-	NULL	ENSG00000163913		0.515	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1		0.00	21	0	-	NM_018262		129195641	+1	tier1		no_errors	ENST00000296266	ensembl	human	known	74_37	frame_shift_ins	7.69	24	2	INS	1.000:1.000	A
IGSF8	93185	genome.wustl.edu	37	1	160062078	160062078	+	Missense_Mutation	SNP	T	T	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:160062078T>C	ENST00000368086.1	-	5	1936	c.1720A>G	c.(1720-1722)Atg>Gtg	p.M574V	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Missense_Mutation_p.M574V			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	574					cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCACCATGCATGTAGGGGTAG	0.627																																																	0													75.0	82.0	80.0					1																	160062078		2203	4300	6503	SO:0001583	missense	0			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1720A>G	1.37:g.160062078T>C	ENSP00000357065:p.Met574Val		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.M574V	ENST00000368086.1	37	c.1720	CCDS1195.1	1	.	.	.	.	.	.	.	.	.	.	T	7.931	0.740627	0.15642	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475	T;T	0.04758	3.56;3.56	3.16	3.16	0.36331	.	0.664307	0.13245	U	0.402566	T	0.00637	0.0021	N	0.08118	0	0.21064	N	0.999795	B	0.02656	0.0	B	0.06405	0.002	T	0.47058	-0.9146	10	0.10902	T	0.67	-0.1632	4.7413	0.13013	0.0:0.2678:0.0:0.7322	.	574	Q969P0	IGSF8_HUMAN	V	574;574;487	ENSP00000316664:M574V;ENSP00000357065:M574V	ENSP00000316664:M574V	M	-	1	0	IGSF8	158328702	0.942000	0.31987	1.000000	0.80357	0.830000	0.47004	1.507000	0.35758	1.049000	0.40321	0.334000	0.21626	ATG	IGSF8	-	NULL	ENSG00000162729		0.627	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF8	HGNC	protein_coding	OTTHUMT00000060636.1	-	0.00	26	0	T	NM_052868		160062078	-1	tier1	-	no_errors	ENST00000314485	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	C
INF2	64423	genome.wustl.edu	37	14	105185166	105185166	+	3'UTR	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:105185166C>T	ENST00000392634.4	+	0	3898				INF2_ENST00000481338.1_3'UTR|INF2_ENST00000330634.7_3'UTR	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing						actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGTGAGAGAGCCCAGGCCACA	0.577																																																	0													41.0	46.0	44.0					14																	105185166		1901	4132	6033	SO:0001624	3_prime_UTR_variant	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.*36C>T	14.37:g.105185166C>T			Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	RNA	SNP	-	NULL	ENST00000392634.4	37	NULL	CCDS9989.2	14																																																																																			INF2	-	-	ENSG00000203485		0.577	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	-	0.00	75	0	C	NM_022489		105185166	+1	tier1	-	no_errors	ENST00000481338	ensembl	human	known	74_37	rna	5.26	90	5	SNP	0.001	T
INHBA	3624	genome.wustl.edu	37	7	41730069	41730069	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:41730069C>T	ENST00000242208.4	-	3	706	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.E154K	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	154					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGCCAGACTTCTGCACGCTCC	0.542										TSP Lung(11;0.080)																																							0													85.0	79.0	81.0					7																	41730069		2203	4300	6503	SO:0001583	missense	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.460G>A	7.37:g.41730069C>T	ENSP00000242208:p.Glu154Lys		Q14599	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.E154K	ENST00000242208.4	37	c.460	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	.	20.1	3.940399	0.73557	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.73258	-0.73;-0.73	6.06	5.17	0.71159	Transforming growth factor-beta, N-terminal (1);	0.093390	0.85682	D	0.000000	T	0.71307	0.3324	L	0.40543	1.245	0.43652	D	0.996063	B	0.29671	0.254	B	0.42625	0.393	T	0.68232	-0.5463	10	0.33940	T	0.23	-16.2856	16.7133	0.85391	0.1305:0.8695:0.0:0.0	.	154	P08476	INHBA_HUMAN	K	154	ENSP00000242208:E154K;ENSP00000397197:E154K	ENSP00000242208:E154K	E	-	1	0	INHBA	41696594	0.999000	0.42202	0.296000	0.24974	0.990000	0.78478	3.767000	0.55288	1.551000	0.49450	0.655000	0.94253	GAA	INHBA	-	pfam_TGF-b_N	ENSG00000122641		0.542	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	-	0.00	20	0	C			41730069	-1	tier1	-	no_errors	ENST00000242208	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.955	T
ITGA8	8516	genome.wustl.edu	37	10	15655758	15655758	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:15655758G>T	ENST00000378076.3	-	15	1807	c.1454C>A	c.(1453-1455)cCg>cAg	p.P485Q		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	485					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGTCACAACCGGTCTTGCTCT	0.463																																																	0													91.0	92.0	92.0					10																	15655758		2203	4300	6503	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1454C>A	10.37:g.15655758G>T	ENSP00000367316:p.Pro485Gln		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.P485Q	ENST00000378076.3	37	c.1454	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465180	0.63513	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.79845	-1.31	5.23	5.23	0.72850	Integrin alpha-2 (1);	0.049578	0.85682	D	0.000000	D	0.90978	0.7163	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.92506	0.6012	10	0.87932	D	0	.	16.995	0.86365	0.0:0.0:1.0:0.0	.	470;485	F5H818;P53708	.;ITA8_HUMAN	Q	485;470	ENSP00000367316:P485Q	ENSP00000367316:P485Q	P	-	2	0	ITGA8	15695764	1.000000	0.71417	0.888000	0.34837	0.492000	0.33523	6.780000	0.75063	2.443000	0.82685	0.467000	0.42956	CCG	ITGA8	-	pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000077943		0.463	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1		0.00	27	0	G	NM_003638		15655758	-1			no_errors	ENST00000378076	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.995	T
JAM3	83700	genome.wustl.edu	37	11	134014150	134014150	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:134014150C>T	ENST00000299106.4	+	4	430	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	JAM3_ENST00000529443.2_Missense_Mutation_p.R136C|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Intron			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	91	Ig-like V-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CTTGGCGGGTCGTGCAGAAAT	0.483																																																	0													109.0	100.0	103.0					11																	134014150		2201	4297	6498	SO:0001583	missense	0			AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.271C>T	11.37:g.134014150C>T	ENSP00000299106:p.Arg91Cys		B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R136C	ENST00000299106.4	37	c.406	CCDS8494.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.049575|4.049575	0.75846|0.75846	.|.	.|.	ENSG00000166086|ENSG00000166086	ENST00000299106|ENST00000534549	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83968|0.83968	0.5369|0.5369	M|M	0.89353|0.89353	3.025|3.025	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.86424|0.86424	0.1756|0.1756	9|5	0.87932|.	D|.	0|.	.|.	17.5125|17.5125	0.87764|0.87764	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	91|.	Q9BX67|.	JAM3_HUMAN|.	C|L	136|35	.|.	ENSP00000299106:R136C|.	R|S	+|+	1|2	0|0	JAM3|JAM3	133519360|133519360	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.795000|0.795000	0.44927|0.44927	4.742000|4.742000	0.62103|0.62103	2.583000|2.583000	0.87209|0.87209	0.561000|0.561000	0.74099|0.74099	CGT|TCG	JAM3	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000166086		0.483	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	JAM3	HGNC	protein_coding	OTTHUMT00000393303.4	-	0.00	46	0	C	NM_032801		134014150	+1	tier1	-	no_errors	ENST00000529443	ensembl	human	known	74_37	missense	30.77	27	12	SNP	0.995	T
KIAA0430	9665	genome.wustl.edu	37	16	15719495	15719495	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:15719495G>T	ENST00000396368.3	-	8	1893	c.1687C>A	c.(1687-1689)Cgc>Agc	p.R563S	KIAA0430_ENST00000548025.1_Missense_Mutation_p.R560S|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R560S|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R385S|KIAA0430_ENST00000551742.1_Missense_Mutation_p.R562S|KIAA0430_ENST00000540441.2_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	563					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTCTGAGCGCGCTCTGCACTA	0.438																																																	0													122.0	117.0	119.0					16																	15719495		1928	4158	6086	SO:0001583	missense	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1687C>A	16.37:g.15719495G>T	ENSP00000379654:p.Arg563Ser		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.R563S	ENST00000396368.3	37	c.1687	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	31	5.089673	0.94149	.	.	ENSG00000166783	ENST00000396368;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.66336	0.2779	M	0.71581	2.175	0.36275	D	0.855446	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77004	0.971;0.989;0.989	T	0.73202	-0.4057	10	0.87932	D	0	.	19.6506	0.95805	0.0:0.0:1.0:0.0	.	561;560;559	Q9Y4F3-5;F8VV09;Q9Y4F3-4	.;.;.	S	563;562;385;560;562;563	ENSP00000379654:R563S;ENSP00000341939:R385S;ENSP00000449376:R560S;ENSP00000450309:R562S	ENSP00000315718:R562S	R	-	1	0	KIAA0430	15626996	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	8.950000	0.93019	2.640000	0.89533	0.591000	0.81541	CGC	KIAA0430	-	pfam_Limkain_b1_cons_dom,smart_RRM_dom	ENSG00000166783		0.438	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2		0.00	57	0	G	NM_014647		15719495	-1			no_errors	ENST00000396368	ensembl	human	known	74_37	missense	5.26	71	4	SNP	1.000	T
KIAA1407	57577	genome.wustl.edu	37	3	113697807	113697807	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:113697807C>T	ENST00000295878.3	-	15	2504	c.2358G>A	c.(2356-2358)acG>acA	p.T786T	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	786										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCTGGAACCACGTCAGCATGT	0.393																																																	0													117.0	115.0	116.0					3																	113697807		2203	4300	6503	SO:0001819	synonymous_variant	0			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2358G>A	3.37:g.113697807C>T			B4DYL1|Q9P2E0	Silent	SNP	NULL	p.T786	ENST00000295878.3	37	c.2358	CCDS2977.1	3																																																																																			KIAA1407	-	NULL	ENSG00000163617		0.393	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2		0.00	66	0	C	NM_020817		113697807	-1			no_errors	ENST00000295878	ensembl	human	known	74_37	silent	6.98	40	3	SNP	0.508	T
KIAA1468	57614	genome.wustl.edu	37	18	59947599	59947599	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:59947599C>A	ENST00000398130.2	+	23	3206	c.2974C>A	c.(2974-2976)Ctt>Att	p.L992I	KIAA1468_ENST00000256858.6_Intron	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	992										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ACAGCTGACTCTTCGAGGCAT	0.473																																																	0													119.0	107.0	111.0					18																	59947599		2203	4300	6503	SO:0001583	missense	0			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2974C>A	18.37:g.59947599C>A	ENSP00000381198:p.Leu992Ile			Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.L992I	ENST00000398130.2	37	c.2974	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643583	0.29246	.	.	ENSG00000134444	ENST00000398130	T	0.68903	-0.36	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.109676	0.64402	D	0.000008	T	0.35219	0.0924	N	0.00446	-1.495	0.24591	N	0.993829	B	0.06786	0.001	B	0.10450	0.005	T	0.04840	-1.0923	9	.	.	.	.	20.1169	0.97940	0.0:1.0:0.0:0.0	.	992	Q9P260	K1468_HUMAN	I	992	ENSP00000381198:L992I	.	L	+	1	0	KIAA1468	58098579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.023000	0.70848	2.835000	0.97688	0.591000	0.81541	CTT	KIAA1468	-	superfamily_ARM-type_fold	ENSG00000134444		0.473	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	-	0.00	55	0	C	NM_020854		59947599	+1	tier1	-	no_errors	ENST00000398130	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A
KIF11	3832	genome.wustl.edu	37	10	94373192	94373192	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:94373192G>T	ENST00000260731.3	+	8	938	c.848G>T	c.(847-849)cGg>cTg	p.R283L		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	283	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGAGAGCTCGGGAAGCTGGA	0.373																																					Colon(47;212 1003 2764 4062 8431)												0													72.0	75.0	74.0					10																	94373192		2203	4300	6503	SO:0001583	missense	0			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.848G>T	10.37:g.94373192G>T	ENSP00000260731:p.Arg283Leu		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R283L	ENST00000260731.3	37	c.848	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.251400	0.95305	.	.	ENSG00000138160	ENST00000260731	T	0.75477	-0.94	5.82	5.82	0.92795	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.87807	0.6270	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88359	0.2986	10	0.87932	D	0	.	20.1092	0.97906	0.0:0.0:1.0:0.0	.	283	P52732	KIF11_HUMAN	L	283	ENSP00000260731:R283L	ENSP00000260731:R283L	R	+	2	0	KIF11	94363172	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.664000	0.74437	2.745000	0.94114	0.655000	0.94253	CGG	KIF11	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000138160		0.373	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	-	0.00	68	0	G	NM_004523		94373192	+1	tier1	-	no_errors	ENST00000260731	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T
KIR3DL1	3811	genome.wustl.edu	37	19	55286739	55286739	+	Intron	SNP	G	G	A	rs373043299		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:55286739G>A	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000336077.6_Missense_Mutation_p.E165K|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.E165K|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CAGGGAAGGGGAGGCCCATGA	0.612													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14119	0.0		0.0	False		,,,				2504	0.0																0								G	LYS/GLU	3,4107		0,3,2052	81.0	89.0	86.0		493	1.1	0.0	19		86	0,8000		0,0,4000	no	missense	KIR2DL1	NM_014218.2	56	0,3,6052	AA,AG,GG		0.0,0.073,0.0248		165/349	55286739	3,12107	2055	4000	6055	SO:0001627	intron_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-42250G>A	19.37:g.55286739G>A			O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.E165K	ENST00000538269.1	37	c.493		19	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252878	0.22965	7.3E-4	0.0	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.16196	2.36;2.36	1.1	1.1	0.20463	.	.	.	.	.	T	0.16599	0.0399	M	0.74389	2.26	0.09310	N	1	B;P	0.41080	0.028;0.737	B;B	0.33960	0.047;0.173	T	0.21861	-1.0233	9	0.87932	D	0	.	5.5929	0.17311	0.0:0.0:1.0:0.0	.	165;165	Q6IST4;Q6H2H3	.;.	K	165	ENSP00000336769:E165K;ENSP00000291633:E165K	ENSP00000291633:E165K	E	+	1	0	KIR2DL1	59978551	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.074000	0.11450	0.924000	0.37069	0.184000	0.17185	GAG	KIR2DL1	-	pfam_Immunoglobulin,smart_Ig_sub	ENSG00000125498		0.612	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL1	HGNC	protein_coding		-	0.00	106	0	G	NM_013289		55286739	+1	tier1	-	no_errors	ENST00000336077	ensembl	human	known	74_37	missense	19.50	128	31	SNP	0.002	A
KLHDC4	54758	genome.wustl.edu	37	16	87790005	87790005	+	Splice_Site	DEL	T	T	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:87790005delT	ENST00000270583.5	-	3	328	c.270delA	c.(268-270)aaa>aa	p.K90fs	KLHDC4_ENST00000347925.5_Splice_Site_p.K90fs|KLHDC4_ENST00000353170.5_Intron	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	90										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TATACTTTACTTTTTGGCCGT	0.393																																																	0													48.0	50.0	49.0					16																	87790005		2198	4300	6498	SO:0001630	splice_region_variant	0			AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.270+1A>-	16.37:g.87790005delT			D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Frame_Shift_Del	DEL	pfam_Kelch_2,pfam_Kelch_1	p.T91fs	ENST00000270583.5	37	c.270	CCDS10963.1	16																																																																																			KLHDC4	-	NULL	ENSG00000104731		0.393	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLHDC4	HGNC	protein_coding	OTTHUMT00000269109.2		0.00	18	0	T	NM_017566	Frame_Shift_Del	87790005	-1	tier1		no_errors	ENST00000270583	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	1.000	-
LEPRE1	64175	genome.wustl.edu	37	1	43218270	43218270	+	Missense_Mutation	SNP	G	G	A	rs147230023		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:43218270G>A	ENST00000296388.5	-	9	1462	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	LEPRE1_ENST00000397054.3_Missense_Mutation_p.R471W|LEPRE1_ENST00000236040.4_Missense_Mutation_p.R471W			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	471					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATCACCACCCGCTGGGAACCA	0.532																																																	0									TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	87.0	93.0		1411,1411	3.0	1.0	1	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LEPRE1	NM_001146289.1,NM_022356.3	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	471/698,471/737	43218270	2,13004	2203	4300	6503	SO:0001583	missense	0			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1411C>T	1.37:g.43218270G>A	ENSP00000296388:p.Arg471Trp		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R471W	ENST00000296388.5	37	c.1411	CCDS472.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.56|17.56	3.420101|3.420101	0.62622|0.62622	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000117385|ENSG00000117385	ENST00000447502|ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	.|T;T;T	.|0.78481	.|-1.18;-1.18;-1.18	4.96|4.96	2.99|2.99	0.34606|0.34606	.|Prolyl 4-hydroxylase, alpha subunit (1);	.|0.118143	.|0.56097	.|D	.|0.000022	D|D	0.87545|0.87545	0.6204|0.6204	M|M	0.85197|0.85197	2.74|2.74	0.50313|0.50313	D|D	0.999864|0.999864	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;0.999	D|D	0.87603|0.87603	0.2498|0.2498	5|10	.|0.87932	.|D	.|0	-27.7934|-27.7934	10.8372|10.8372	0.46694|0.46694	0.0:0.0:0.4686:0.5314|0.0:0.0:0.4686:0.5314	.|.	.|471;336;471	.|Q32P28-3;B4DNM8;Q32P28	.|.;.;P3H1_HUMAN	V|W	62|471;471;471;336	.|ENSP00000380245:R471W;ENSP00000236040:R471W;ENSP00000296388:R471W	.|ENSP00000236040:R471W	A|R	-|-	2|1	0|2	LEPRE1|LEPRE1	42990857|42990857	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.623000|0.623000	0.37688|0.37688	1.997000|1.997000	0.40786|0.40786	0.612000|0.612000	0.30071|0.30071	0.457000|0.457000	0.33378|0.33378	GCG|CGG	LEPRE1	-	smart_Pro_4_hyd_alph	ENSG00000117385		0.532	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	-	0.00	27	0	G	NM_022356		43218270	-1	tier1	rs147230023	no_errors	ENST00000236040	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	A
LEPR	3953	genome.wustl.edu	37	1	66067198	66067198	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:66067198C>T	ENST00000349533.6	+	9	1303	c.1118C>T	c.(1117-1119)gCt>gTt	p.A373V	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.A373V|LEPR_ENST00000344610.8_Missense_Mutation_p.A373V|LEPR_ENST00000371058.1_Missense_Mutation_p.A373V|LEPR_ENST00000371059.3_Missense_Mutation_p.A373V|LEPR_ENST00000462765.1_3'UTR	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)		ATGAATTTAGCTGAGAAAATT	0.358																																																	0													144.0	137.0	139.0					1																	66067198		2203	4300	6503	SO:0001583	missense	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.1118C>T	1.37:g.66067198C>T	ENSP00000330393:p.Ala373Val		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A373V	ENST00000349533.6	37	c.1118	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990012	0.74589	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	4.98	4.98	0.66077	Immunoglobulin-like (1);Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	0.518641	0.23396	N	0.048640	D	0.84329	0.5448	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.991;0.956	D	0.85372	0.1114	10	0.62326	D	0.03	-22.0644	14.1024	0.65065	0.0:0.8497:0.1503:0.0	.	373;373;373	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	V	373	ENSP00000340884:A373V;ENSP00000330393:A373V;ENSP00000360099:A373V;ENSP00000360098:A373V;ENSP00000360097:A373V	ENSP00000340884:A373V	A	+	2	0	LEPR	65839786	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.034000	0.41145	2.582000	0.87167	0.655000	0.94253	GCT	LEPR	-	pfam_IgC2-like_lig-bd,pfscan_Ig-like_dom	ENSG00000116678		0.358	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	-	0.00	55	0	C	NM_002303		66067198	+1	tier1	-	no_errors	ENST00000349533	ensembl	human	known	74_37	missense	66.67	14	28	SNP	1.000	T
LNPEP	4012	genome.wustl.edu	37	5	96341827	96341827	+	Silent	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:96341827G>T	ENST00000231368.5	+	10	2528	c.1836G>T	c.(1834-1836)ctG>ctT	p.L612L	LNPEP_ENST00000395770.3_Silent_p.L598L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	612					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CCTGGACCCTGCAGAAAGGAT	0.289																																																	0													51.0	55.0	54.0					5																	96341827		2203	4296	6499	SO:0001819	synonymous_variant	0			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1836G>T	5.37:g.96341827G>T			O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L612	ENST00000231368.5	37	c.1836	CCDS4087.1	5																																																																																			LNPEP	-	NULL	ENSG00000113441		0.289	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1	-	0.00	51	0	G	NM_005575		96341827	+1	tier1	-	no_errors	ENST00000231368	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.998	T
LINC01119	100134259	genome.wustl.edu	37	2	47083029	47083032	+	Intron	DEL	TATG	TATG	-	rs201553289|rs112990716|rs4953430|rs28711956|rs79545619|rs3835756		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	TATG	TATG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:47083029_47083032delTATG	ENST00000422294.1	+	2	216				AC016722.3_ENST00000453936.1_RNA|AC016722.2_ENST00000468141.1_Intron																							catctatatatatgtatatatata	0.466																																																	0																																										SO:0001627	intron_variant	0																														ENST00000422294.1:c.89-30TATG>-	2.37:g.47083029_47083032delTATG				RNA	DEL	-	NULL	ENST00000422294.1	37	NULL		2																																																																																			AC016722.2	-	-	ENSG00000239332		0.466	AC016722.2-004	PUTATIVE	mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	LOC100134259	Clone_based_vega_gene	protein_coding	OTTHUMT00000329426.1		0.00	11	0	TATG			47083032	+1	tier1		no_errors	ENST00000495449	ensembl	human	known	74_37	rna	36.00	16	9	DEL	0.004:0.001:0.001:0.000	-
LOC101927746	101927746	genome.wustl.edu	37	7	100953991	100953991	+	RNA	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:100953991C>A	ENST00000419422.1	+	0	430																											tagagggattcaagagacttc	0.378																																																	0																																												0																															7.37:g.100953991C>A				RNA	SNP	-	NULL	ENST00000419422.1	37	NULL		7																																																																																			RP11-132A1.4	-	-	ENSG00000232445		0.378	RP11-132A1.4-001	KNOWN	basic	antisense	LOC101927746	Clone_based_vega_gene	antisense	OTTHUMT00000347448.1	-	0.00	44	0	C			100953991	+1	tier1	-	no_errors	ENST00000419422	ensembl	human	known	74_37	rna	9.30	39	4	SNP	0.035	A
OGFRP1	388906	genome.wustl.edu	37	22	42670129	42670129	+	lincRNA	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr22:42670129C>T	ENST00000332965.3	+	0	503				Z83851.4_ENST00000420096.2_lincRNA	NR_036498.1																						AACTCAGTCACACCAAGAGGG	0.572																																																	0																																												0																															22.37:g.42670129C>T				RNA	SNP	-	NULL	ENST00000332965.3	37	NULL		22																																																																																			Z83851.3	-	-	ENSG00000182057		0.572	Z83851.3-001	KNOWN	basic	lincRNA	LOC388906	Clone_based_vega_gene	lincRNA	OTTHUMT00000319662.1	-	0.00	24	0	C			42670129	+1	tier1	-	no_errors	ENST00000332965	ensembl	human	known	74_37	rna	15.00	33	6	SNP	0.000	T
LRP10	26020	genome.wustl.edu	37	14	23345472	23345472	+	Missense_Mutation	SNP	C	C	A	rs370278128		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:23345472C>A	ENST00000359591.4	+	5	2006	c.1315C>A	c.(1315-1317)Cgc>Agc	p.R439S	LRP10_ENST00000546834.1_Missense_Mutation_p.R439S	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	439					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTCTGCCCCGCAAGGTCAT	0.607																																																	0													167.0	148.0	154.0					14																	23345472		2203	4300	6503	SO:0001583	missense	0			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1315C>A	14.37:g.23345472C>A	ENSP00000352601:p.Arg439Ser		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.R439S	ENST00000359591.4	37	c.1315	CCDS9578.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.020225|4.020225	0.75275|0.75275	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	D|D;D	0.94966|0.94138	-3.57|-3.25;-3.36	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.047842	.|0.85682	.|D	.|0.000000	D|D	0.93265|0.93265	0.7854|0.7854	N|N	0.13299|0.13299	0.325|0.325	0.53688|0.53688	D|D	0.999977|0.999977	.|D	.|0.76494	.|0.999	.|D	.|0.68621	.|0.959	D|D	0.93126|0.93126	0.6529|0.6529	7|10	0.46703|0.39692	T|T	0.11|0.17	-25.1666|-25.1666	19.1994|19.1994	0.93704|0.93704	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|439	.|Q7Z4F1	.|LRP10_HUMAN	Q|S	340|439	ENSP00000447977:P340Q|ENSP00000352601:R439S;ENSP00000447559:R439S	ENSP00000447977:P340Q|ENSP00000352601:R439S	P|R	+|+	2|1	0|0	LRP10|LRP10	22415312|22415312	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.605000|1.605000	0.36815|0.36815	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	CCG|CGC	LRP10	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000197324		0.607	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP10	HGNC	protein_coding	OTTHUMT00000071663.3	-	0.00	11	0	C			23345472	+1	tier1	-	no_errors	ENST00000359591	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	A
LRP2	4036	genome.wustl.edu	37	2	170096091	170096091	+	Missense_Mutation	SNP	A	A	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:170096091A>T	ENST00000263816.3	-	26	4525	c.4240T>A	c.(4240-4242)Tcg>Acg	p.S1414T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1414	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTATCACACGAGCACCGGAAA	0.438																																																	0													142.0	131.0	134.0					2																	170096091		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4240T>A	2.37:g.170096091A>T	ENSP00000263816:p.Ser1414Thr		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.S1414T	ENST00000263816.3	37	c.4240	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	7.416	0.635658	0.14322	.	.	ENSG00000081479	ENST00000263816	D	0.87966	-2.32	5.54	1.63	0.23807	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.562501	0.20378	N	0.093516	T	0.71178	0.3309	N	0.13043	0.29	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.55068	-0.8198	10	0.08837	T	0.75	.	8.5054	0.33184	0.619:0.2621:0.0:0.1189	.	1414	P98164	LRP2_HUMAN	T	1414	ENSP00000263816:S1414T	ENSP00000263816:S1414T	S	-	1	0	LRP2	169804337	1.000000	0.71417	0.768000	0.31515	0.247000	0.25773	2.377000	0.44300	0.034000	0.15491	-0.264000	0.10439	TCG	LRP2	-	superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000081479		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0.00	40	0	A	NM_004525		170096091	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	67.80	19	40	SNP	1.000	T
LRRC14B	389257	genome.wustl.edu	37	5	191776	191776	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:191776C>T	ENST00000328278.3	+	1	151	c.123C>T	c.(121-123)agC>agT	p.S41S		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	41										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TCAAAGCCAGCTACCTGCTGG	0.682																																																	0													15.0	18.0	17.0					5																	191776		2085	4215	6300	SO:0001819	synonymous_variant	0				CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.123C>T	5.37:g.191776C>T				Silent	SNP	NULL	p.S41	ENST00000328278.3	37	c.123	CCDS47184.1	5																																																																																			LRRC14B	-	NULL	ENSG00000185028		0.682	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC14B	HGNC	protein_coding	OTTHUMT00000365393.2	-	0.00	40	0	C	NM_001080478		191776	+1	tier1	-	no_errors	ENST00000328278	ensembl	human	novel	74_37	silent	6.67	56	4	SNP	1.000	T
LRRC37A3	374819	genome.wustl.edu	37	17	62893154	62893154	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:62893154C>T	ENST00000584306.1	-	3	752	c.222G>A	c.(220-222)gcG>gcA	p.A74A	RP11-927P21.2_ENST00000581622.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000319651.5_Silent_p.A74A|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	74						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGAGAGTAGGCGCATGGGGAG	0.617																																																	0													4.0	6.0	6.0					17																	62893154		1206	3254	4460	SO:0001819	synonymous_variant	0			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.222G>A	17.37:g.62893154C>T			Q49A01|Q49A80|Q8NB33	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A74	ENST00000584306.1	37	c.222	CCDS32708.1	17																																																																																			LRRC37A3	-	NULL	ENSG00000176809		0.617	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1		0.00	48	0	C	NM_199340		62893154	-1			no_errors	ENST00000319651	ensembl	human	known	74_37	silent	7.23	77	6	SNP	0.000	T
LUC7L	55692	genome.wustl.edu	37	16	240027	240027	+	Missense_Mutation	SNP	C	C	T	rs148192154		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:240027C>T	ENST00000293872.8	-	9	1024	c.914G>A	c.(913-915)cGt>cAt	p.R305H	LUC7L_ENST00000397783.1_Missense_Mutation_p.R305H|LUC7L_ENST00000337351.4_Missense_Mutation_p.R305H|LUC7L_ENST00000397780.1_Missense_Mutation_p.R252H	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	305	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GCTCCGGGAACGGCTGCGGTG	0.632																																																	0								C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	234.0	231.0	232.0		914,914	5.2	1.0	16	dbSNP_134	232	0,8600		0,0,4300	yes	missense,missense	LUC7L	NM_018032.3,NM_201412.1	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	305/326,305/372	240027	1,13005	2203	4300	6503	SO:0001583	missense	0			AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.914G>A	16.37:g.240027C>T	ENSP00000293872:p.Arg305His		B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	pfam_Luc7-rel	p.R305H	ENST00000293872.8	37	c.914	CCDS32348.1	16	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308337	0.60305	2.27E-4	0.0	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000429378;ENST00000397780	T;T;T;T	0.67865	0.68;0.68;-0.29;2.02	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	M	0.80616	2.505	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.84474	0.0601	10	0.56958	D	0.05	.	17.6237	0.88089	0.0:1.0:0.0:0.0	.	305	Q9NQ29	LUC7L_HUMAN	H	305;305;305;104;252	ENSP00000337507:R305H;ENSP00000380885:R305H;ENSP00000413033:R104H;ENSP00000380882:R252H	ENSP00000293872:R305H	R	-	2	0	LUC7L	180028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.683000	0.74533	2.404000	0.81709	0.655000	0.94253	CGT	LUC7L	-	NULL	ENSG00000007392		0.632	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L	HGNC	protein_coding	OTTHUMT00000134239.1		0.00	62	0	C			240027	-1			no_errors	ENST00000293872	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
MAP3K8	1326	genome.wustl.edu	37	10	30749675	30749675	+	Silent	SNP	C	C	T	rs372877014		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:30749675C>T	ENST00000263056.1	+	9	2010	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	MAP3K8_ENST00000542547.1_Silent_p.L438L|MAP3K8_ENST00000375321.1_Silent_p.L438L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	438			Missing (in oncogenic form).		cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CTGAGATGCTCAAGAGGCAAC	0.463																																																	0								C		0,4406		0,0,2203	95.0	84.0	88.0		1314	-4.3	0.8	10		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAP3K8	NM_005204.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		438/468	30749675	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.1314C>T	10.37:g.30749675C>T			A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	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.L438	ENST00000263056.1	37	c.1314	CCDS7166.1	10																																																																																			MAP3K8	-	superfamily_Kinase-like_dom	ENSG00000107968		0.463	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAP3K8	HGNC	protein_coding	OTTHUMT00000047416.2		0.00	11	0	C	NM_005204		30749675	+1			no_errors	ENST00000263056	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.153	T
MAPK8	5599	genome.wustl.edu	37	10	49628338	49628338	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:49628338C>T	ENST00000374189.1	+	6	772	c.591C>T	c.(589-591)atC>atT	p.I197I	MAPK8_ENST00000360332.3_Silent_p.I197I|MAPK8_ENST00000395611.3_Silent_p.I197I|MAPK8_ENST00000374182.3_Silent_p.I197I|MAPK8_ENST00000374174.1_Silent_p.I197I			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CCGAGGTCATCCTTGGCATGG	0.398																																																	0													143.0	135.0	137.0					10																	49628338		2203	4300	6503	SO:0001819	synonymous_variant	0			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.591C>T	10.37:g.49628338C>T			B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	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,prints_MAPK_JNK	p.I197	ENST00000374189.1	37	c.591	CCDS7224.1	10																																																																																			MAPK8	-	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	ENSG00000107643		0.398	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK8	HGNC	protein_coding	OTTHUMT00000047931.1		0.00	31	0	C			49628338	+1			no_errors	ENST00000360332	ensembl	human	known	74_37	silent	7.89	35	3	SNP	1.000	T
LZTS2	84445	genome.wustl.edu	37	10	102763412	102763412	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:102763412C>A	ENST00000370220.1	+	2	3620	c.557C>A	c.(556-558)cCt>cAt	p.P186H	LZTS2_ENST00000370223.3_Missense_Mutation_p.P186H					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TTTGGGGGCCCTGcctcctcc	0.657																																					Esophageal Squamous(8;38 437 13604 19902 37640)												0													83.0	96.0	91.0					10																	102763412		2203	4300	6503	SO:0001583	missense	0			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.557C>A	10.37:g.102763412C>A	ENSP00000359240:p.Pro186His			Missense_Mutation	SNP	NULL	p.P186H	ENST00000370220.1	37	c.557	CCDS7507.1	10	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640346	0.47153	.	.	ENSG00000107816	ENST00000426584;ENST00000370223;ENST00000429732;ENST00000315797;ENST00000370220;ENST00000454422	T;T	0.32023	1.47;1.47	5.27	5.27	0.74061	.	0.166280	0.53938	D	0.000048	T	0.27063	0.0663	L	0.34521	1.04	0.34014	D	0.651848	B	0.06786	0.001	B	0.04013	0.001	T	0.17167	-1.0378	10	0.27785	T	0.31	-4.7468	18.8452	0.92203	0.0:1.0:0.0:0.0	.	186	Q9BRK4	LZTS2_HUMAN	H	186	ENSP00000359243:P186H;ENSP00000359240:P186H	ENSP00000314437:P186H	P	+	2	0	LZTS2	102753402	0.982000	0.34865	1.000000	0.80357	0.969000	0.65631	2.639000	0.46570	2.619000	0.88677	0.561000	0.74099	CCT	LZTS2	-	NULL	ENSG00000107816		0.657	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LZTS2	HGNC	protein_coding	OTTHUMT00000049872.1		0.00	33	0	C	XM_046743		102763412	+1			no_errors	ENST00000370220	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A
MATR3	9782	genome.wustl.edu	37	5	138661312	138661312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:138661312G>T	ENST00000394805.3	+	13	2667	c.2332G>T	c.(2332-2334)Gag>Tag	p.E778*	MATR3_ENST00000502499.1_Nonsense_Mutation_p.E440*|MATR3_ENST00000394800.2_Nonsense_Mutation_p.E826*|MATR3_ENST00000510056.1_Nonsense_Mutation_p.E778*|MATR3_ENST00000361059.2_Nonsense_Mutation_p.E778*|MATR3_ENST00000509990.1_Nonsense_Mutation_p.E778*|MATR3_ENST00000503811.1_Nonsense_Mutation_p.E490*|MATR3_ENST00000502929.1_Nonsense_Mutation_p.E826*|MATR3_ENST00000504203.1_Nonsense_Mutation_p.E440*	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	778					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AATCCCAGATGAGTATAGAAT	0.408																																																	0													136.0	121.0	126.0					5																	138661312		2203	4300	6503	SO:0001587	stop_gained	0			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.2332G>T	5.37:g.138661312G>T	ENSP00000378284:p.Glu778*		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Nonsense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.E778*	ENST00000394805.3	37	c.2332	CCDS4210.1	5	.	.	.	.	.	.	.	.	.	.	G	44	11.090375	0.99514	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000503811;ENST00000337359	.	.	.	4.29	4.29	0.51040	.	0.298098	0.37261	N	0.002172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-5.2297	17.29	0.87153	0.0:0.0:1.0:0.0	.	.	.	.	X	778;778;440;826;826;778;440;778;490;214	.	ENSP00000338208:E214X	E	+	1	0	MATR3	138689211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.378000	0.73150	2.380000	0.81148	0.585000	0.79938	GAG	MATR3	-	NULL	ENSG00000015479		0.408	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MATR3	HGNC	protein_coding	OTTHUMT00000251324.2	-	0.00	23	0	G	NM_018834		138661312	+1	tier1	-	no_errors	ENST00000361059	ensembl	human	known	74_37	nonsense	17.65	14	3	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90398430	90398430	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:90398430C>T	ENST00000369393.3	-	66	11236	c.11121G>A	c.(11119-11121)gtG>gtA	p.V3707V	MDN1_ENST00000428876.1_Silent_p.V3707V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3707					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATCAGGTTTCACCATCAGGT	0.522																																																	0													90.0	73.0	79.0					6																	90398430		2203	4300	6503	SO:0001819	synonymous_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11121G>A	6.37:g.90398430C>T			O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.V3707	ENST00000369393.3	37	c.11121	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin	ENSG00000112159		0.522	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0.00	21	0	C			90398430	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	silent	38.89	11	7	SNP	0.326	T
MDN1	23195	genome.wustl.edu	37	6	90453354	90453354	+	Missense_Mutation	SNP	T	T	C	rs534022191	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:90453354T>C	ENST00000369393.3	-	30	4373	c.4258A>G	c.(4258-4260)Atg>Gtg	p.M1420V	MDN1_ENST00000428876.1_Missense_Mutation_p.M1420V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1420					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GATGTCTCCATGTGTAAGTGG	0.453													T|||	14	0.00279553	0.0	0.0	5008	,	,		19264	0.0		0.0	False		,,,				2504	0.0143																0													121.0	116.0	118.0					6																	90453354		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4258A>G	6.37:g.90453354T>C	ENSP00000358400:p.Met1420Val		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.M1420V	ENST00000369393.3	37	c.4258	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723268	0.48728	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.56444	0.46;0.46	5.57	5.57	0.84162	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	L	0.56396	1.775	0.45354	D	0.998346	P	0.39060	0.657	P	0.45232	0.474	T	0.49103	-0.8974	10	0.42905	T	0.14	.	15.7408	0.77894	0.0:0.0:0.0:1.0	.	1420	Q9NU22	MDN1_HUMAN	V	1420	ENSP00000358400:M1420V;ENSP00000413970:M1420V	ENSP00000358400:M1420V	M	-	1	0	MDN1	90510075	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.157000	0.71846	2.114000	0.64651	0.460000	0.39030	ATG	MDN1	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin	ENSG00000112159		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2		0.00	50	0	T			90453354	-1			no_errors	ENST00000369393	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	C
MED14	9282	genome.wustl.edu	37	X	40513746	40513746	+	Silent	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chrX:40513746G>A	ENST00000324817.1	-	30	4279	c.4161C>T	c.(4159-4161)atC>atT	p.I1387I		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1387					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|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)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTCATAAATGATTGGAACTA	0.428																																																	0													112.0	89.0	97.0					X																	40513746		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.4161C>T	X.37:g.40513746G>A			Q4KMR7|Q9UNB3	Silent	SNP	pfam_Mediator_Med14	p.I1387	ENST00000324817.1	37	c.4161	CCDS14254.1	X																																																																																			MED14	-	NULL	ENSG00000180182		0.428	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	-	0.00	18	0	G	NM_004229		40513746	-1	tier1	-	no_errors	ENST00000324817	ensembl	human	known	74_37	silent	25.81	23	8	SNP	0.999	A
MED25	81857	genome.wustl.edu	37	19	50334095	50334095	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:50334095C>A	ENST00000312865.6	+	9	1105	c.1052C>A	c.(1051-1053)gCc>gAc	p.A351D	MED25_ENST00000538643.1_Missense_Mutation_p.A138D	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	351	Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCCACTGTGGCCCCTGGCTCC	0.716																																					GBM(51;894 1657 37868)												0													37.0	43.0	41.0					19																	50334095		2199	4294	6493	SO:0001583	missense	0			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1052C>A	19.37:g.50334095C>A	ENSP00000326767:p.Ala351Asp		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.A351D	ENST00000312865.6	37	c.1052	CCDS33075.1	19	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509622	0.44660	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070	T;T	0.79352	-1.26;-1.26	5.58	4.56	0.56223	Mediator complex, subunit Med25, synapsin 1 (1);	0.376195	0.28736	N	0.014310	T	0.74627	0.3741	N	0.14661	0.345	0.36072	D	0.842207	D;D;D	0.67145	0.992;0.996;0.977	P;D;P	0.67382	0.883;0.951;0.812	T	0.73288	-0.4030	10	0.12103	T	0.63	.	13.1865	0.59684	0.0:0.9221:0.0:0.0779	.	138;351;351	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	D	351;351;351;351;351;138;86	ENSP00000326767:A351D;ENSP00000437496:A138D	ENSP00000326767:A351D	A	+	2	0	MED25	55025907	0.994000	0.37717	0.918000	0.36340	0.268000	0.26511	3.445000	0.52921	1.360000	0.45960	0.655000	0.94253	GCC	MED25	-	pfam_Mediator_Med25_SD1	ENSG00000104973		0.716	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1		0.00	12	0	C	NM_030973		50334095	+1			no_errors	ENST00000312865	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.994	A
MEPE	56955	genome.wustl.edu	37	4	88767807	88767807	+	3'UTR	DEL	A	A	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:88767807delA	ENST00000424957.3	+	0	1860				MEPE_ENST00000560249.1_3'UTR|MEPE_ENST00000361056.3_3'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_3'UTR|MEPE_ENST00000497649.2_3'UTR|MEPE_ENST00000540395.1_3'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein						biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GTTTTTAAGCAAAAAAAAATC	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.*209A>-	4.37:g.88767807delA			A1A4X9|A8MTA3|D2CFR4|F5H5C5	RNA	DEL	-	NULL	ENST00000424957.3	37	NULL	CCDS3625.1	4																																																																																			MEPE	-	-	ENSG00000152595		0.323	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1		0.00	28	0	A			88767807	+1	tier1		no_errors	ENST00000508016	ensembl	human	known	74_37	rna	9.09	20	2	DEL	0.000	-
MFAP1	4236	genome.wustl.edu	37	15	44105232	44105233	+	Frame_Shift_Ins	INS	-	-	TTCC			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr15:44105232_44105233insTTCC	ENST00000267812.3	-	6	1071_1072	c.839_840insGGAA	c.(838-840)aaafs	p.-280fs		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1						extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GCTCTCGAACTTTCCATGCCTC	0.426																																																	0																																										SO:0001589	frameshift_variant	0				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.836_839dupGGAA	15.37:g.44105233_44105236dupTTCC	ENSP00000267812:p.Lys280fs		Q86TG6	Frame_Shift_Ins	INS	pfam_MFAP1_C	p.V281fs	ENST00000267812.3	37	c.840_839	CCDS10105.1	15																																																																																			MFAP1	-	pfam_MFAP1_C	ENSG00000140259		0.426	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2		0.00	64	0	-	NM_005926		44105233	-1	tier1		no_errors	ENST00000267812	ensembl	human	known	74_37	frame_shift_ins	32.31	44	21	INS	1.000:1.000	TTCC
MGAM	8972	genome.wustl.edu	37	7	141778736	141778736	+	Intron	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr7:141778736C>T	ENST00000549489.2	+	38	4713				MGAM_ENST00000475668.2_Silent_p.A1925A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGCCAATGCCTTCCCTTCCA	0.463																																																	0																																										SO:0001627	intron_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4618+13468C>T	7.37:g.141778736C>T			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.A1925	ENST00000549489.2	37	c.5775	CCDS47727.1	7																																																																																			MGAM	-	superfamily_Gal_mutarotase_SF_dom	ENSG00000257335		0.463	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0.00	88	0	C			141778736	+1	tier1	-	no_errors	ENST00000475668	ensembl	human	putative	74_37	silent	38.64	54	34	SNP	0.000	T
MLLT4	4301	genome.wustl.edu	37	6	168363200	168363200	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:168363200C>A	ENST00000447894.2	+	30	4900	c.4900C>A	c.(4900-4902)Cgc>Agc	p.R1634S	MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646S|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641S|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617S|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632S|MLLT4_ENST00000366806.2_Missense_Mutation_p.R1634S|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1644S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1634					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.R1634C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAGGAAGAGCGCCGGCGGCA	0.547			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	1	Substitution - Missense(1)	kidney(1)											89.0	112.0	104.0					6																	168363200		2029	4170	6199	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4900C>A	6.37:g.168363200C>A	ENSP00000404595:p.Arg1634Ser		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.R1634S	ENST00000447894.2	37	c.4900		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.167|9.167	1.020196|1.020196	0.19433|0.19433	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000507704;ENST00000476946	T;T;T;T;T;T;T|.	0.57595|.	3.7;0.74;3.62;0.74;0.74;0.39;0.74|.	4.06|4.06	3.16|3.16	0.36331|0.36331	.|.	0.083308|.	0.45606|.	D|.	0.000348|.	T|T	0.43612|0.43612	0.1255|0.1255	L|L	0.57536|0.57536	1.79|1.79	0.31982|0.31982	N|N	0.605771|0.605771	B;B;B|.	0.25105|.	0.072;0.118;0.05|.	B;B;B|.	0.42214|.	0.06;0.127;0.38|.	T|T	0.36480|0.36480	-0.9746|-0.9746	10|5	0.62326|.	D|.	0.03|.	-3.5836|-3.5836	13.5002|13.5002	0.61449|0.61449	0.0:0.8355:0.1645:0.0|0.0:0.8355:0.1645:0.0	.|.	1634;1644;1632|.	P55196;P55196-5;P55196-6|.	AFAD_HUMAN;.;.|.	S|R	1646;1641;1632;1634;1617;1646;1644;1634|122;109	ENSP00000341118:R1646S;ENSP00000252692:R1641S;ENSP00000375956:R1632S;ENSP00000355771:R1634S;ENSP00000375960:R1617S;ENSP00000383623:R1644S;ENSP00000404595:R1634S|.	ENSP00000345834:R1646S|.	R|S	+|+	1|3	0|2	MLLT4|MLLT4	168106049|168106049	1.000000|1.000000	0.71417|0.71417	0.502000|0.502000	0.27614|0.27614	0.018000|0.018000	0.09664|0.09664	2.359000|2.359000	0.44142|0.44142	0.771000|0.771000	0.33359|0.33359	0.591000|0.591000	0.81541|0.81541	CGC|AGC	MLLT4	-	NULL	ENSG00000130396		0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1		0.00	41	0	C	NM_005936		168363200	+1			no_errors	ENST00000366806	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.999	A
MMP26	56547	genome.wustl.edu	37	11	5009484	5009484	+	Missense_Mutation	SNP	T	T	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:5009484T>G	ENST00000380390.1	+	2	259	c.43T>G	c.(43-45)Tgt>Ggt	p.C15G	MMP26_ENST00000300762.1_Missense_Mutation_p.C15G|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	15					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CTTGCCCTGGTGTTTCGCCGT	0.493											OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													295.0	233.0	254.0					11																	5009484		2201	4298	6499	SO:0001583	missense	0			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.43T>G	11.37:g.5009484T>G	ENSP00000369753:p.Cys15Gly	623	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A	p.C15G	ENST00000380390.1	37	c.43	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	T	9.185	1.024578	0.19433	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.26223	1.75;1.75	3.3	2.04	0.26737	.	0.170828	0.27513	N	0.019032	T	0.20941	0.0504	L	0.59436	1.845	0.09310	N	1	B	0.20780	0.048	B	0.16289	0.015	T	0.11036	-1.0604	10	0.39692	T	0.17	-10.9504	6.017	0.19608	0.0:0.0:0.2682:0.7318	.	15	Q9NRE1	MMP26_HUMAN	G	15	ENSP00000369753:C15G;ENSP00000300762:C15G	ENSP00000300762:C15G	C	+	1	0	MMP26	4966060	0.926000	0.31397	0.184000	0.23157	0.009000	0.06853	0.676000	0.25247	1.503000	0.48686	0.533000	0.62120	TGT	MMP26	-	NULL	ENSG00000167346		0.493	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3	-	0.00	52	0	T	NM_021801		5009484	+1	tier1	-	no_errors	ENST00000300762	ensembl	human	known	74_37	missense	46.67	32	28	SNP	0.198	G
MMS19	64210	genome.wustl.edu	37	10	99218606	99218606	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:99218606C>T	ENST00000438925.2	-	30	3351	c.3016G>A	c.(3016-3018)Gac>Aac	p.D1006N	MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000355839.6_Missense_Mutation_p.D963N|MMS19_ENST00000327238.10_Missense_Mutation_p.D908N|MMS19_ENST00000370782.2_Missense_Mutation_p.D1006N	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	1006					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CTCTTCTTGTCATCCAGGGGT	0.532								Direct reversal of damage																																									0													125.0	97.0	106.0					10																	99218606		2203	4300	6503	SO:0001583	missense	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.3016G>A	10.37:g.99218606C>T	ENSP00000412698:p.Asp1006Asn		B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_C,superfamily_ARM-type_fold	p.D1006N	ENST00000438925.2	37	c.3016	CCDS7464.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.237772|5.237772	0.95240|0.95240	.|.	.|.	ENSG00000155229|ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839|ENST00000444411;ENST00000434538	T;T;T;T|.	0.68025|.	-0.28;-0.28;-0.3;-0.28|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.046305|.	0.85682|.	D|.	0.000000|.	D|D	0.86443|0.86443	0.5934|0.5934	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;0.999;0.999;0.998;1.0|.	D|D	0.88527|0.88527	0.3100|0.3100	10|5	0.62326|.	D|.	0.03|.	.|.	19.7572|19.7572	0.96298|0.96298	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1027;908;963;1006;963|.	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3|.	.;.;.;MMS19_HUMAN;.|.	N|I	1006;1006;908;985;963|65;573	ENSP00000412698:D1006N;ENSP00000359818:D1006N;ENSP00000320059:D908N;ENSP00000348097:D963N|.	ENSP00000320059:D908N|.	D|M	-|-	1|3	0|0	MMS19|MMS19	99208596|99208596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.131000|7.131000	0.77243|0.77243	2.667000|2.667000	0.90743|0.90743	0.650000|0.650000	0.86243|0.86243	GAC|ATG	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.532	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	-	0.00	33	0	C			99218606	-1	tier1	-	no_errors	ENST00000370782	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	T
MON2	23041	genome.wustl.edu	37	12	62902072	62902072	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:62902072G>A	ENST00000393632.2	+	8	1187	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MON2_ENST00000393629.2_Missense_Mutation_p.E266K|MON2_ENST00000546600.1_Missense_Mutation_p.E266K|MON2_ENST00000280379.6_Missense_Mutation_p.E266K|MON2_ENST00000552115.1_Missense_Mutation_p.E266K|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000552738.1_Missense_Mutation_p.E266K|MON2_ENST00000393630.3_Missense_Mutation_p.E266K	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	266					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATAGCACCAAGAATTTAGTTT	0.333																																																	0													83.0	81.0	81.0					12																	62902072		2203	4299	6502	SO:0001583	missense	0				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.796G>A	12.37:g.62902072G>A	ENSP00000377252:p.Glu266Lys		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold	p.E266K	ENST00000393632.2	37	c.796	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.328012	0.95733	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.66460	-0.21;0.92;0.92;-0.21;-0.21;0.92;0.92	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84946	0.5585	M	0.88842	2.985	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0	D;D;D;D;D	0.79784	0.986;0.982;0.982;0.988;0.993	D	0.87097	0.2176	9	.	.	.	-16.1496	18.9162	0.92507	0.0:0.0:1.0:0.0	.	266;266;266;266;266	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4;Q7Z3U7	.;.;.;.;MON2_HUMAN	K	266;266;266;266;194;266;266;266	ENSP00000377252:E266K;ENSP00000377250:E266K;ENSP00000280379:E266K;ENSP00000447407:E266K;ENSP00000449215:E266K;ENSP00000377249:E266K;ENSP00000446635:E266K	.	E	+	1	0	MON2	61188339	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	9.738000	0.98835	2.546000	0.85860	0.563000	0.77884	GAA	MON2	-	superfamily_ARM-type_fold	ENSG00000061987		0.333	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	-	0.00	45	0	G	NM_015026		62902072	+1	tier1	-	no_errors	ENST00000393630	ensembl	human	known	74_37	missense	17.20	77	16	SNP	1.000	A
MPG	4350	genome.wustl.edu	37	16	135510	135510	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:135510G>A	ENST00000219431.4	+	5	862	c.631G>A	c.(631-633)Gac>Aac	p.D211N	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Missense_Mutation_p.D194N	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	211					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)	p.D211Y(1)		endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TGTCCTCAAGGACCGCGAGCT	0.627								Base excision repair (BER), DNA glycosylases																																									1	Substitution - Missense(1)	ovary(1)											46.0	49.0	48.0					16																	135510		2203	4300	6503	SO:0001583	missense	0				CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.631G>A	16.37:g.135510G>A	ENSP00000219431:p.Asp211Asn		G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	p.D211N	ENST00000219431.4	37	c.631	CCDS32346.1	16	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593898	0.46214	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.2	4.24	0.50183	Formyl transferase, C-terminal-like (1);	0.052654	0.85682	D	0.000000	T	0.22085	0.0532	M	0.67700	2.07	0.80722	D	1	B;B	0.27559	0.181;0.181	B;B	0.30716	0.119;0.093	T	0.02546	-1.1143	10	0.44086	T	0.13	-1.2206	13.0129	0.58741	0.0784:0.0:0.9216:0.0	.	206;211	Q5J9I4;P29372	.;3MG_HUMAN	N	194;194;206;211	ENSP00000388097:D194N;ENSP00000380918:D194N;ENSP00000348809:D206N;ENSP00000219431:D211N	ENSP00000219431:D211N	D	+	1	0	MPG	75510	1.000000	0.71417	0.973000	0.42090	0.983000	0.72400	7.904000	0.87408	1.184000	0.42957	0.462000	0.41574	GAC	MPG	-	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	ENSG00000103152		0.627	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPG	HGNC	protein_coding	OTTHUMT00000109121.4	-	0.00	56	0	G			135510	+1	tier1	-	no_errors	ENST00000219431	ensembl	human	known	74_37	missense	19.12	55	13	SNP	1.000	A
MRPL19	9801	genome.wustl.edu	37	2	75881943	75881943	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:75881943G>A	ENST00000393909.2	+	5	582	c.557G>A	c.(556-558)aGc>aAc	p.S186N	MRPL19_ENST00000409374.1_Missense_Mutation_p.S186N|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	186					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						CTGGATGATAGCTTGCTATAC	0.398																																																	0													138.0	127.0	131.0					2																	75881943		1870	4099	5969	SO:0001583	missense	0			AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.557G>A	2.37:g.75881943G>A	ENSP00000377486:p.Ser186Asn		Q53TX9|Q96Q52	Missense_Mutation	SNP	pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19	p.S186N	ENST00000393909.2	37	c.557	CCDS1960.2	2	.	.	.	.	.	.	.	.	.	.	G	2.677	-0.276251	0.05679	.	.	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	5.18	1.82	0.25136	Translation protein SH3-like (1);	0.120246	0.85682	N	0.000000	T	0.10766	0.0263	N	0.00215	-1.835	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.05468	-1.0883	9	0.13108	T	0.6	-6.1463	6.0394	0.19726	0.4323:0.0:0.5677:0.0	.	186	P49406	RM19_HUMAN	N	186	.	ENSP00000377486:S186N	S	+	2	0	MRPL19	75735451	1.000000	0.71417	0.238000	0.24106	0.833000	0.47200	5.123000	0.64703	0.666000	0.31087	0.563000	0.77884	AGC	MRPL19	-	pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like	ENSG00000115364		0.398	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL19	HGNC	protein_coding	OTTHUMT00000252256.1	-	0.00	42	0	G	NM_014763		75881943	+1	tier1	-	no_errors	ENST00000393909	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.996	A
MRPL4	51073	genome.wustl.edu	37	19	10370426	10370426	+	Silent	SNP	C	C	T	rs147343809		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:10370426C>T	ENST00000253099.6	+	9	1160	c.873C>T	c.(871-873)agC>agT	p.S291S	MRPL4_ENST00000393733.2_3'UTR|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Silent_p.S291S|CTD-2369P2.4_ENST00000587088.1_RNA	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	291					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TGCCCTACAGCGACTTCCCCC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		9807	0.0		0.0	False		,,,				2504	0.001																0								C	,,	0,4406		0,0,2203	77.0	63.0	68.0		873,873,	-5.6	0.4	19	dbSNP_134	68	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,utr-3	MRPL4	NM_015956.2,NM_146387.1,NM_146388.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	291/312,291/312,	10370426	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.873C>T	19.37:g.10370426C>T			A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Silent	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type	p.S291	ENST00000253099.6	37	c.873	CCDS12230.1	19																																																																																			MRPL4	-	NULL	ENSG00000105364		0.662	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL4	HGNC	protein_coding	OTTHUMT00000451197.1	-	0.00	43	0	C			10370426	+1	tier1	rs147343809	no_errors	ENST00000253099	ensembl	human	known	74_37	silent	34.69	31	17	SNP	0.311	T
MRPL50	54534	genome.wustl.edu	37	9	104160850	104160850	+	Missense_Mutation	SNP	T	T	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:104160850T>A	ENST00000374865.4	-	1	46	c.25A>T	c.(25-27)Att>Ttt	p.I9F	MRPL50_ENST00000539624.1_Missense_Mutation_p.I9F|ZNF189_ENST00000259395.4_5'Flank|ZNF189_ENST00000374861.3_5'Flank|ZNF189_ENST00000339664.2_5'Flank	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	9						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				CTTCTGGTAATGCCCGACACA	0.542																																																	0													116.0	105.0	109.0					9																	104160850		2203	4300	6503	SO:0001583	missense	0			AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.25A>T	9.37:g.104160850T>A	ENSP00000363999:p.Ile9Phe		B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	pfam_Ribosomal_L50_mt	p.I9F	ENST00000374865.4	37	c.25	CCDS6753.1	9	.	.	.	.	.	.	.	.	.	.	T	11.55	1.671130	0.29693	.	.	ENSG00000136897	ENST00000374865;ENST00000539624	T	0.46063	0.88	4.1	-2.4	0.06583	.	1.475580	0.04680	N	0.412248	T	0.21962	0.0529	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.13229	-1.0517	10	0.39692	T	0.17	-2.0581	1.5723	0.02617	0.3333:0.2435:0.3074:0.1158	.	9;9	B7Z358;Q8N5N7	.;RM50_HUMAN	F	9	ENSP00000363999:I9F	ENSP00000363999:I9F	I	-	1	0	MRPL50	103200671	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.703000	0.00822	-0.404000	0.07610	-0.344000	0.07964	ATT	MRPL50	-	NULL	ENSG00000136897		0.542	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL50	HGNC	protein_coding	OTTHUMT00000053450.1	-	0.00	37	0	T	NM_019051		104160850	-1	tier1	-	no_errors	ENST00000374865	ensembl	human	known	74_37	missense	29.55	31	13	SNP	0.000	A
MVP	9961	genome.wustl.edu	37	16	29859260	29859260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:29859260C>T	ENST00000357402.5	+	15	2770	c.2632C>T	c.(2632-2634)Cag>Tag	p.Q878*	MVP_ENST00000395353.1_Nonsense_Mutation_p.Q878*	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	878					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CCAGTCTGCTCAGGCCCCTCA	0.592																																																	0													43.0	47.0	46.0					16																	29859260		2197	4300	6497	SO:0001587	stop_gained	0			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.2632C>T	16.37:g.29859260C>T	ENSP00000349977:p.Gln878*		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Nonsense_Mutation	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.Q878*	ENST00000357402.5	37	c.2632	CCDS10656.1	16	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309152	0.60414	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	.	.	.	5.19	-10.4	0.00318	.	1.686830	0.03488	N	0.216174	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4507	8.698	0.34307	0.0:0.2073:0.4378:0.3549	.	.	.	.	X	878	.	ENSP00000349977:Q878X	Q	+	1	0	MVP	29766761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.854000	0.01664	-2.354000	0.00614	-1.097000	0.02148	CAG	MVP	-	NULL	ENSG00000013364		0.592	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	-	0.00	48	0	C	NM_005115		29859260	+1	tier1	-	no_errors	ENST00000357402	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	0.000	T
MYB	4602	genome.wustl.edu	37	6	135515008	135515008	+	Missense_Mutation	SNP	A	A	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:135515008A>C	ENST00000367814.4	+	7	981	c.795A>C	c.(793-795)ttA>ttC	p.L265F	MYB_ENST00000528774.1_Missense_Mutation_p.L265F|MYB_ENST00000442647.2_Missense_Mutation_p.L265F|MYB_ENST00000534044.1_Missense_Mutation_p.L265F|MYB_ENST00000316528.8_Missense_Mutation_p.L265F|MYB_ENST00000420123.2_Missense_Mutation_p.L241F|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.L265F|MYB_ENST00000533624.1_Missense_Mutation_p.L265F|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000527615.1_Missense_Mutation_p.L265F|MYB_ENST00000525369.1_Missense_Mutation_p.L265F|MYB_ENST00000341911.5_Missense_Mutation_p.L265F	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	265					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTGTAGCGTTACATGTAAATA	0.443			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													222.0	196.0	205.0					6																	135515008		2203	4300	6503	SO:0001583	missense	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.795A>C	6.37:g.135515008A>C	ENSP00000356788:p.Leu265Phe		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L265F	ENST00000367814.4	37	c.795	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104070	0.76983	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.34667	2.6;2.11;2.1;2.12;1.35;1.85;2.6;2.6;1.78;2.2	5.23	2.89	0.33648	.	0.071359	0.56097	D	0.000027	T	0.37376	0.1001	M	0.67953	2.075	0.52501	D	0.999957	D;D;B;D;P;D;D;D;D;D	0.89917	0.998;0.999;0.034;1.0;0.853;0.964;0.999;1.0;0.998;1.0	D;D;B;D;P;P;D;D;D;D	0.91635	0.99;0.996;0.02;0.998;0.473;0.647;0.972;0.999;0.94;0.997	T	0.37709	-0.9694	10	0.54805	T	0.06	-4.9594	2.493	0.04615	0.346:0.0:0.4099:0.2441	.	265;265;241;265;265;265;265;265;265;265	E9PI07;E9PLZ5;E9PMQ0;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;.;MYB_HUMAN;.	F	265;265;265;265;265;265;241;265;265;265;265;265;219	ENSP00000339992:L265F;ENSP00000410825:L265F;ENSP00000326328:L265F;ENSP00000356788:L265F;ENSP00000433227:L265F;ENSP00000435938:L265F;ENSP00000434723:L265F;ENSP00000432851:L265F;ENSP00000435055:L265F;ENSP00000436605:L265F	ENSP00000237302:L265F	L	+	3	2	MYB	135556701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.025000	0.49681	0.842000	0.35045	0.528000	0.53228	TTA	MYB	-	NULL	ENSG00000118513		0.443	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	-	0.00	67	0	A			135515008	+1	tier1	-	no_errors	ENST00000341911	ensembl	human	known	74_37	missense	28.57	40	16	SNP	1.000	C
MYO1D	4642	genome.wustl.edu	37	17	30821801	30821801	+	Silent	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:30821801G>A	ENST00000318217.5	-	22	3301	c.2997C>T	c.(2995-2997)ttC>ttT	p.F999F	MYO1D_ENST00000394649.4_Silent_p.F911F|RP11-466A19.1_ENST00000581360.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	999	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CGCTGAGGATGAAGCCCGAGC	0.682																																																	0													58.0	46.0	50.0					17																	30821801		2203	4299	6502	SO:0001819	synonymous_variant	0			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2997C>T	17.37:g.30821801G>A			A6H8V3|Q8NHP9	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F999	ENST00000318217.5	37	c.2997	CCDS32615.1	17																																																																																			MYO1D	-	pfam_Myosin_tail_2	ENSG00000176658		0.682	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1		0.00	33	0	G			30821801	-1			no_errors	ENST00000318217	ensembl	human	known	74_37	silent	8.33	55	5	SNP	1.000	A
MYO5C	55930	genome.wustl.edu	37	15	52513403	52513403	+	Missense_Mutation	SNP	T	T	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr15:52513403T>G	ENST00000261839.7	-	30	3838	c.3677A>C	c.(3676-3678)cAa>cCa	p.Q1226P		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1226						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTCAAGATCTTGCTTCTGTTT	0.338																																																	0													116.0	108.0	110.0					15																	52513403		1825	4074	5899	SO:0001583	missense	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3677A>C	15.37:g.52513403T>G	ENSP00000261839:p.Gln1226Pro		Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1226P	ENST00000261839.7	37	c.3677	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	T	13.04	2.117801	0.37339	.	.	ENSG00000128833	ENST00000261839	T	0.17691	2.26	5.19	4.07	0.47477	.	0.263110	0.38492	N	0.001672	T	0.07638	0.0192	N	0.14661	0.345	0.80722	D	1	B	0.31730	0.337	B	0.22601	0.04	T	0.31447	-0.9943	10	0.34782	T	0.22	.	4.7222	0.12924	0.2091:0.0881:0.0:0.7029	.	1226	Q9NQX4	MYO5C_HUMAN	P	1226	ENSP00000261839:Q1226P	ENSP00000261839:Q1226P	Q	-	2	0	MYO5C	50300695	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.767000	0.47637	1.001000	0.39076	0.528000	0.53228	CAA	MYO5C	-	NULL	ENSG00000128833		0.338	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	-	0.00	59	0	T	NM_018728		52513403	-1	tier1	-	no_errors	ENST00000261839	ensembl	human	known	74_37	missense	25.97	57	20	SNP	1.000	G
NBPF4	148545	genome.wustl.edu	37	1	108769358	108769358	+	Silent	SNP	C	C	T	rs371824699	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:108769358C>T	ENST00000415641.3	-	14	2021	c.1818G>A	c.(1816-1818)ccG>ccA	p.P606P		NM_001143989.2	NP_001137461.1	Q96M43	NBPF4_HUMAN	neuroblastoma breakpoint family, member 4	606						cytoplasm (GO:0005737)				endometrium(2)|lung(1)|skin(1)	4						ACTTGCTGAACGGGAGTCTTC	0.522													c|||	355	0.0708866	0.003	0.1527	5008	,	,		17680	0.1458		0.0447	False		,,,				2504	0.0542																0													32.0	35.0	34.0					1																	108769358		664	1469	2133	SO:0001819	synonymous_variant	0			AK057395	CCDS44182.1	1p13.3	2013-01-17			ENSG00000196427	ENSG00000196427		"""neuroblastoma breakpoint family"""	26550	protein-coding gene	gene with protein product		613994				16079250	Standard	NM_001143989		Approved	FLJ32833	uc009weo.2	Q96M43	OTTHUMG00000011318	ENST00000415641.3:c.1818G>A	1.37:g.108769358C>T			Q5T483	Silent	SNP	pfam_NBPF_dom	p.P606	ENST00000415641.3	37	c.1818	CCDS44182.1	1																																																																																			NBPF4	-	NULL	ENSG00000196427		0.522	NBPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF4	HGNC	protein_coding	OTTHUMT00000031255.5	-	0.00	17	0	C	NM_152488		108769358	-1	tier1	-	no_errors	ENST00000415641	ensembl	human	known	74_37	silent	33.33	4	2	SNP	0.000	T
NOTCH4	4855	genome.wustl.edu	37	6	32187428	32187428	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:32187428C>A	ENST00000375023.3	-	8	1589	c.1451G>T	c.(1450-1452)tGc>tTc	p.C484F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	484	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.C484Y(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCCTGGGTGGCAGGGCTGGGA	0.607																																																	1	Substitution - Missense(1)	large_intestine(1)											93.0	65.0	75.0					6																	32187428		1510	2709	4219	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1451G>T	6.37:g.32187428C>A	ENSP00000364163:p.Cys484Phe		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.C484F	ENST00000375023.3	37	c.1451	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538387	0.65085	.	.	ENSG00000204301	ENST00000375023	D	0.94793	-3.52	4.0	4.0	0.46444	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45606	D	0.000356	D	0.98535	0.9511	H	0.99740	4.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98824	1.0748	10	0.87932	D	0	.	13.6604	0.62363	0.0:1.0:0.0:0.0	.	484;484	Q6P3V5;Q99466	.;NOTC4_HUMAN	F	484	ENSP00000364163:C484F	ENSP00000364163:C484F	C	-	2	0	NOTCH4	32295406	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	7.140000	0.77322	2.069000	0.61940	0.455000	0.32223	TGC	NOTCH4	-	pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000204301		0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2		0.00	69	0	C			32187428	-1			no_errors	ENST00000375023	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	A
NPHS1	4868	genome.wustl.edu	37	19	36339270	36339270	+	Silent	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:36339270G>T	ENST00000378910.5	-	10	1199	c.1200C>A	c.(1198-1200)tcC>tcA	p.S400S	NPHS1_ENST00000353632.6_Silent_p.S400S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	400	Ig-like C2-type 4.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.S400S(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGTCAGGTTGGACATGGAGA	0.587																																																	1	Substitution - coding silent(1)	endometrium(1)											93.0	81.0	85.0					19																	36339270		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1200C>A	19.37:g.36339270G>T			A6NDH2|C3RX61	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S400	ENST00000378910.5	37	c.1200	CCDS32996.1	19																																																																																			NPHS1	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000161270		0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1		0.00	25	0	G			36339270	-1			no_errors	ENST00000378910	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.972	T
NUF2	83540	genome.wustl.edu	37	1	163310159	163310159	+	Silent	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:163310159G>T	ENST00000271452.3	+	9	891	c.612G>T	c.(610-612)gtG>gtT	p.V204V	NUF2_ENST00000524800.1_Silent_p.V204V|NUF2_ENST00000367900.3_Silent_p.V204V	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	204	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CTTAGATAGTGCTGCAAGAGG	0.318																																																	0													127.0	137.0	134.0					1																	163310159		2203	4298	6501	SO:0001819	synonymous_variant	0			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.612G>T	1.37:g.163310159G>T			Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	pfam_Kinetochore_Nuf2	p.C203F	ENST00000271452.3	37	c.608	CCDS1245.1	1																																																																																			NUF2	-	NULL	ENSG00000143228		0.318	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUF2	HGNC	protein_coding	OTTHUMT00000082812.1	-	0.00	53	0	G	NM_145697		163310159	+1	tier1	-	no_errors	ENST00000497990	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.246	T
NUP107	57122	genome.wustl.edu	37	12	69109443	69109443	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:69109443G>A	ENST00000229179.4	+	12	1338	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	NUP107_ENST00000539906.1_Missense_Mutation_p.D307N|NUP107_ENST00000378905.2_Missense_Mutation_p.D185N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	336					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AATGCCCCTTGATGATCTGGA	0.373																																																	0													165.0	169.0	168.0					12																	69109443		2203	4300	6503	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1006G>A	12.37:g.69109443G>A	ENSP00000229179:p.Asp336Asn		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.D336N	ENST00000229179.4	37	c.1006	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930754	0.52866	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	4.91	4.91	0.64330	.	0.234803	0.45606	N	0.000351	T	0.73140	0.3549	L	0.59436	1.845	0.58432	D	0.999995	P;P;P	0.51240	0.91;0.943;0.85	P;P;P	0.57846	0.676;0.828;0.58	T	0.72312	-0.4331	8	.	.	.	-19.7351	18.4646	0.90750	0.0:0.0:1.0:0.0	.	307;185;336	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	N	336;185;307	.	.	D	+	1	0	NUP107	67395710	1.000000	0.71417	0.999000	0.59377	0.665000	0.39181	9.053000	0.93860	2.452000	0.82932	0.563000	0.77884	GAT	NUP107	-	pfam_Nup84_Nup100	ENSG00000111581		0.373	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	-	0.00	59	0	G	NM_020401		69109443	+1	tier1	-	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	34.56	195	103	SNP	1.000	A
OR4C16	219428	genome.wustl.edu	37	11	55339864	55339864	+	Missense_Mutation	SNP	G	G	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:55339864G>C	ENST00000314634.3	+	1	261	c.261G>C	c.(259-261)aaG>aaC	p.K87N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	87						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)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTTTGAAGAAGACAACTATCT	0.448																																																	0													269.0	251.0	257.0					11																	55339864		2201	4296	6497	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.261G>C	11.37:g.55339864G>C	ENSP00000324913:p.Lys87Asn		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K87N	ENST00000314634.3	37	c.261	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	G	1.207	-0.630694	0.03584	.	.	ENSG00000181935	ENST00000314634	T	0.03094	4.05	4.98	-9.05	0.00730	GPCR, rhodopsin-like superfamily (1);	0.906757	0.09558	N	0.785985	T	0.02533	0.0077	L	0.33245	0.995	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.38693	-0.9649	10	0.45353	T	0.12	.	6.5933	0.22659	0.2523:0.0:0.275:0.4726	.	87	Q8NGL9	OR4CG_HUMAN	N	87	ENSP00000324913:K87N	ENSP00000324913:K87N	K	+	3	2	OR4C16	55096440	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.566000	0.00429	-2.428000	0.00559	-2.839000	0.00105	AAG	OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181935		0.448	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	-	0.00	53	0	G	NM_001004701		55339864	+1	tier1	-	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	25.00	48	16	SNP	0.000	C
OR4K2	390431	genome.wustl.edu	37	14	20345270	20345270	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:20345270C>T	ENST00000298642.2	+	1	880	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L282M(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTCCCACTCTGAACCCAAT	0.373																																																	1	Substitution - Missense(1)	lung(1)											111.0	117.0	115.0					14																	20345270		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.844C>T	14.37:g.20345270C>T			B2RNK8|Q6IFA5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L282	ENST00000298642.2	37	c.844	CCDS32023.1	14																																																																																			OR4K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000165762		0.373	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K2	HGNC	protein_coding	OTTHUMT00000409864.1		0.00	37	0	C			20345270	+1			no_errors	ENST00000298642	ensembl	human	known	74_37	silent	8.33	33	3	SNP	0.003	T
OSBPL1A	114876	genome.wustl.edu	37	18	21897350	21897350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:21897350delA	ENST00000319481.3	-	10	953	c.747delT	c.(745-747)tttfs	p.F249fs		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	249	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATCTCCAGCCAAAAAATCTTG	0.338																																																	0													89.0	95.0	93.0					18																	21897350		2203	4299	6502	SO:0001589	frameshift_variant	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.747delT	18.37:g.21897350delA	ENSP00000320291:p.Phe249fs		B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Del	DEL	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.F249fs	ENST00000319481.3	37	c.747	CCDS11884.1	18																																																																																			OSBPL1A	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000141447		0.338	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1		0.00	31	0	A	NM_080597		21897350	-1	tier1		no_errors	ENST00000319481	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	1.000	-
OSMR	9180	genome.wustl.edu	37	5	38885478	38885478	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:38885478C>A	ENST00000274276.3	+	6	1133	c.731C>A	c.(730-732)tCt>tAt	p.S244Y	OSMR_ENST00000502536.1_Missense_Mutation_p.S244Y	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	244					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAGGACTTTTCTTGTGAAACC	0.433																																																	0													94.0	91.0	92.0					5																	38885478		2203	4300	6503	SO:0001583	missense	0			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.731C>A	5.37:g.38885478C>A	ENSP00000274276:p.Ser244Tyr		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S244Y	ENST00000274276.3	37	c.731	CCDS3928.1	5	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903100	0.72754	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.69806	-0.43;-0.43	5.33	5.33	0.75918	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.436377	0.28641	N	0.014623	T	0.81631	0.4863	M	0.78801	2.425	0.40137	D	0.976787	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84363	0.0539	10	0.87932	D	0	.	14.5157	0.67818	0.0:1.0:0.0:0.0	.	244;244	Q99650;Q99650-2	OSMR_HUMAN;.	Y	244	ENSP00000422023:S244Y;ENSP00000274276:S244Y	ENSP00000274276:S244Y	S	+	2	0	OSMR	38921235	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	2.440000	0.44855	2.498000	0.84270	0.655000	0.94253	TCT	OSMR	-	superfamily_Fibronectin_type3	ENSG00000145623		0.433	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2		0.00	37	0	C	NM_003999		38885478	+1			no_errors	ENST00000274276	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A
OVGP1	5016	genome.wustl.edu	37	1	111957458	111957458	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:111957458C>T	ENST00000369732.3	-	11	1720	c.1665G>A	c.(1663-1665)gaG>gaA	p.E555E		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	555					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GTCTAAGGGTCTCAGTCTGAA	0.547																																																	0													111.0	119.0	116.0					1																	111957458		2203	4300	6503	SO:0001819	synonymous_variant	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1665G>A	1.37:g.111957458C>T			A0AV19|B9EGE1|Q15841	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.E555	ENST00000369732.3	37	c.1665	CCDS834.1	1																																																																																			OVGP1	-	NULL	ENSG00000085465		0.547	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	-	0.00	39	0	C	NM_002557		111957458	-1	tier1	-	no_errors	ENST00000369732	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.015	T
PCDH9	5101	genome.wustl.edu	37	13	66878818	66878818	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr13:66878818G>T	ENST00000377865.2	-	4	3817	c.3683C>A	c.(3682-3684)gCt>gAt	p.A1228D	PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000544246.1_Missense_Mutation_p.A1228D|PCDH9_ENST00000456367.1_Missense_Mutation_p.A1194D|PCDH9_ENST00000328454.5_Missense_Mutation_p.A1194D			Q9HC56	PCDH9_HUMAN	protocadherin 9	1228					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACTCTCAGTAGCACCTCCTGC	0.438																																																	0													115.0	109.0	111.0					13																	66878818		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3683C>A	13.37:g.66878818G>T	ENSP00000367096:p.Ala1228Asp		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A1228D	ENST00000377865.2	37	c.3683	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272383	0.40194	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.57273	0.48;0.48;0.41;0.41	6.05	6.05	0.98169	.	0.452878	0.18838	N	0.129745	T	0.39600	0.1084	N	0.08118	0	0.38883	D	0.956945	B;B;B	0.21452	0.032;0.054;0.056	B;B;B	0.22601	0.018;0.04;0.018	T	0.29212	-1.0019	10	0.48119	T	0.1	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	1186;1194;1228	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	D	1228;1228;1194;1194	ENSP00000442186:A1228D;ENSP00000367096:A1228D;ENSP00000401699:A1194D;ENSP00000332060:A1194D	ENSP00000332060:A1194D	A	-	2	0	PCDH9	65776819	1.000000	0.71417	0.704000	0.30370	0.974000	0.67602	6.109000	0.71528	2.878000	0.98634	0.650000	0.86243	GCT	PCDH9	-	NULL	ENSG00000184226		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0.00	29	0	G	NM_203487		66878818	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	19.35	25	6	SNP	0.990	T
PCDHA3	56145	genome.wustl.edu	37	5	140181370	140181371	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:140181370_140181371insA	ENST00000522353.2	+	1	588_589	c.588_589insA	c.(589-591)aaafs	p.K197fs	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Frame_Shift_Ins_p.K197fs|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	197	Cadherin 2. {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(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCGTGTTGAAAAAAAATTT	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.596dupA	5.37:g.140181378_140181378dupA	ENSP00000429808:p.Lys197fs		O75286	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N198fs	ENST00000522353.2	37	c.588_589	CCDS54915.1	5																																																																																			PCDHA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000255408		0.361	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2		0.00	20	0	-	NM_018906		140181371	+1	tier1		no_errors	ENST00000522353	ensembl	human	known	74_37	frame_shift_ins	12.00	22	3	INS	0.860:0.987	A
PCDHA3	56145	genome.wustl.edu	37	5	140203783	140203783	+	Intron	SNP	T	T	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:140203783T>C	ENST00000522353.2	+	1	2394				PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.L808P|PCDHA4_ENST00000512229.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3						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(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCACCCACTTTTTTTGTAT	0.323																																																	0													36.0	40.0	38.0					5																	140203783		2203	4300	6503	SO:0001627	intron_variant	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2394+20607T>C	5.37:g.140203783T>C			O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L808P	ENST00000522353.2	37	c.2423	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	T	10.75	1.439571	0.25900	.	.	ENSG00000204965	ENST00000378126	T	0.52983	0.64	3.72	-0.89	0.10577	.	.	.	.	.	T	0.28067	0.0692	.	.	.	0.09310	N	1	B	0.17268	0.021	B	0.19946	0.027	T	0.22836	-1.0205	7	.	.	.	.	5.7244	0.18004	0.2696:0.0:0.2789:0.4515	.	808	Q9Y5H7-2	.	P	808	ENSP00000367366:L808P	.	L	+	2	0	PCDHA5	140183967	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.464000	0.06688	-0.378000	0.07918	0.402000	0.26972	CTT	PCDHA5	-	NULL	ENSG00000204965		0.323	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372848.2		0.00	10	0	T	NM_018906		140203783	+1			no_errors	ENST00000378126	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.000	C
PDE3A	5139	genome.wustl.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGTCCCAGCTGATTGCTGGGA	0.627																																																	1	Substitution - coding silent(1)	urinary_tract(1)											26.0	32.0	30.0					12																	20523043		2192	4269	6461	SO:0001819	synonymous_variant	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.825G>A	12.37:g.20523043G>A			O60865|Q13348|Q17RD1	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.L275	ENST00000359062.3	37	c.825	CCDS31754.1	12																																																																																			PDE3A	-	NULL	ENSG00000172572		0.627	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2		0.00	12	0	G			20523043	+1			no_errors	ENST00000359062	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.011	A
PENK	5179	genome.wustl.edu	37	8	57358447	57358447	+	Silent	SNP	C	C	T	rs149051933	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:57358447C>T	ENST00000314922.3	-	1	142	c.66G>A	c.(64-66)gtG>gtA	p.V22V	PENK_ENST00000451791.2_Silent_p.V22V|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000523051.1_Silent_p.V22V|PENK_ENST00000523274.1_5'Flank|PENK_ENST00000518770.1_Silent_p.V22V	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	22					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ATTCGGCCCGCACGGTCGCCA	0.672																																																	0								C	,	0,4402		0,0,2201	34.0	34.0	34.0		66,66	0.0	0.0	8	dbSNP_134	34	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous,coding-synonymous	PENK	NM_001135690.1,NM_006211.3	,	0,4,6496	TT,TC,CC		0.0465,0.0,0.0308	,	22/268,22/268	57358447	4,12996	2201	4299	6500	SO:0001819	synonymous_variant	0				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.66G>A	8.37:g.57358447C>T			B2RC23|Q6FHC6|Q6FHE6	Silent	SNP	pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept	p.V22	ENST00000314922.3	37	c.66	CCDS6168.1	8																																																																																			PENK	-	pfam_Opioid_neupept,prints_Proenkphlin_A	ENSG00000181195		0.672	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PENK	HGNC	protein_coding	OTTHUMT00000378645.1	-	0.00	29	0	C			57358447	-1	tier1	rs149051933	no_errors	ENST00000314922	ensembl	human	known	74_37	silent	47.83	12	11	SNP	0.000	T
GAL3ST1	9514	genome.wustl.edu	37	22	30973103	30973103	+	5'Flank	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr22:30973103G>T	ENST00000406361.1	-	0	0				PES1_ENST00000405677.1_Missense_Mutation_p.A427E|PES1_ENST00000335214.6_Missense_Mutation_p.A561E|PES1_ENST00000402281.1_Missense_Mutation_p.A427E|PES1_ENST00000402284.3_Missense_Mutation_p.A549E|GAL3ST1_ENST00000402369.1_5'Flank|PES1_ENST00000354694.7_Missense_Mutation_p.A566E			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1						galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCGCTTCTCCGCCAGCTTGTT	0.602																																																	0													55.0	46.0	49.0					22																	30973103		2203	4300	6503	SO:0001631	upstream_gene_variant	0			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200		22.37:g.30973103G>T	Exception_encountered		Q96C63	Missense_Mutation	SNP	pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.A566E	ENST00000406361.1	37	c.1697	CCDS13879.1	22	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295694	0.40594	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.20881	2.05;2.04;2.04;2.05;2.04	5.3	5.3	0.74995	.	0.059010	0.64402	D	0.000002	T	0.35248	0.0925	L	0.57536	1.79	0.80722	D	1	P;P;D;P	0.58970	0.465;0.826;0.984;0.465	B;P;P;B	0.57468	0.177;0.492;0.821;0.177	T	0.07328	-1.0778	10	0.07644	T	0.81	-16.3206	18.5425	0.91033	0.0:0.0:1.0:0.0	.	566;549;561;566	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	E	566;427;427;549;561	ENSP00000346725:A566E;ENSP00000384366:A427E;ENSP00000385654:A427E;ENSP00000384252:A549E;ENSP00000334612:A561E	ENSP00000334612:A561E	A	-	2	0	PES1	29303103	1.000000	0.71417	0.979000	0.43373	0.805000	0.45488	6.093000	0.71422	2.495000	0.84180	0.555000	0.69702	GCG	PES1	-	NULL	ENSG00000100029		0.602	GAL3ST1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PES1	HGNC	protein_coding	OTTHUMT00000321744.1	-	0.00	45	0	G	NM_004861		30973103	-1	tier1	-	no_errors	ENST00000354694	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.998	T
PGR	5241	genome.wustl.edu	37	11	100922294	100922294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:100922294G>A	ENST00000325455.5	-	5	3671	c.2218C>T	c.(2218-2220)Cga>Tga	p.R740*	PGR_ENST00000534013.1_Nonsense_Mutation_p.R146*|PGR_ENST00000263463.5_Nonsense_Mutation_p.R638*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	740	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TGTAAGTTTCGAAAACCTACA	0.323																																					Pancreas(124;2271 2354 21954 22882)												0													72.0	74.0	73.0					11																	100922294		2203	4300	6503	SO:0001587	stop_gained	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2218C>T	11.37:g.100922294G>A	ENSP00000325120:p.Arg740*		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Nonsense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.R740*	ENST00000325455.5	37	c.2218	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	G	40	8.184911	0.98696	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	.	.	.	5.24	3.33	0.38152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1701	0.59593	0.0:0.0:0.5806:0.4194	.	.	.	.	X	740;146;638;638	.	ENSP00000263463:R638X	R	-	1	2	PGR	100427504	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.982000	0.56909	0.554000	0.29061	0.650000	0.86243	CGA	PGR	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000082175		0.323	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	-	0.00	13	0	G			100922294	-1	tier1	-	no_errors	ENST00000325455	ensembl	human	known	74_37	nonsense	69.23	4	9	SNP	1.000	A
PHF13	148479	genome.wustl.edu	37	1	6681626	6681626	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:6681626C>T	ENST00000377648.4	+	4	1214	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	278					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CCAAAAGTGCCGGGACTCCAA	0.577																																																	0													69.0	63.0	65.0					1																	6681626		2203	4300	6503	SO:0001583	missense	0			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.832C>T	1.37:g.6681626C>T	ENSP00000366876:p.Arg278Trp		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.R278W	ENST00000377648.4	37	c.832	CCDS85.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718809	0.89205	.	.	ENSG00000116273	ENST00000377648	D	0.85339	-1.97	5.66	4.75	0.60458	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93729	0.7996	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94857	0.8018	10	0.87932	D	0	0.7979	13.616	0.62108	0.0:0.926:0.0:0.074	.	278	Q86YI8	PHF13_HUMAN	W	278	ENSP00000366876:R278W	ENSP00000366876:R278W	R	+	1	2	PHF13	6604213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.419000	0.59835	1.398000	0.46701	0.655000	0.94253	CGG	PHF13	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000116273		0.577	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF13	HGNC	protein_coding	OTTHUMT00000004201.1		0.00	51	0	C	NM_153812		6681626	+1			no_errors	ENST00000377648	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
PIGQ	9091	genome.wustl.edu	37	16	633575	633575	+	Missense_Mutation	SNP	T	T	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:633575T>C	ENST00000026218.5	+	10	2312	c.2224T>C	c.(2224-2226)Tca>Cca	p.S742P	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	742					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCCGGGCCCTCACTCCCTGA	0.632																																																	0													37.0	40.0	39.0					16																	633575		2199	4300	6499	SO:0001583	missense	0			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.2224T>C	16.37:g.633575T>C	ENSP00000026218:p.Ser742Pro		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.S742P	ENST00000026218.5	37	c.2224	CCDS10411.1	16	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554382	0.27739	.	.	ENSG00000007541	ENST00000026218	T	0.22539	1.95	3.43	-4.18	0.03846	.	.	.	.	.	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.14023	0.01;0.0	T	0.37478	-0.9704	8	.	.	.	.	4.7025	0.12834	0.1576:0.4202:0.0:0.4222	.	312;742	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	P	742	ENSP00000026218:S742P	.	S	+	1	0	PIGQ	573576	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.597000	0.05713	-1.115000	0.02973	0.379000	0.24179	TCA	PIGQ	-	NULL	ENSG00000007541		0.632	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	-	0.00	34	0	T	NM_004204		633575	+1	tier1	-	no_errors	ENST00000026218	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.000	C
PLAG1	5324	genome.wustl.edu	37	8	57079116	57079116	+	Missense_Mutation	SNP	C	C	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:57079116C>G	ENST00000316981.3	-	5	1668	c.1189G>C	c.(1189-1191)Gac>Cac	p.D397H	PLAG1_ENST00000429357.2_Missense_Mutation_p.D397H|PLAG1_ENST00000423799.2_Missense_Mutation_p.D315H	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	397	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AGGGAGAGGTCTCCTGCACCA	0.463			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																			Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	0													100.0	100.0	100.0					8																	57079116		2203	4300	6503	SO:0001583	missense	0			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1189G>C	8.37:g.57079116C>G	ENSP00000325546:p.Asp397His		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D397H	ENST00000316981.3	37	c.1189	CCDS6165.1	8	.	.	.	.	.	.	.	.	.	.	C	9.118	1.008156	0.19199	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.12774	2.65;3.35;2.65	5.68	5.68	0.88126	.	0.277608	0.39985	N	0.001204	T	0.09992	0.0245	N	0.19112	0.55	0.53005	D	0.999961	P	0.44309	0.832	B	0.33295	0.161	T	0.07271	-1.0781	10	0.59425	D	0.04	-13.8647	18.7746	0.91907	0.0:1.0:0.0:0.0	.	397	Q6DJT9	PLAG1_HUMAN	H	397;315;397	ENSP00000325546:D397H;ENSP00000404067:D315H;ENSP00000416537:D397H	ENSP00000325546:D397H	D	-	1	0	PLAG1	57241670	1.000000	0.71417	0.982000	0.44146	0.963000	0.63663	7.298000	0.78815	2.675000	0.91044	0.467000	0.42956	GAC	PLAG1	-	NULL	ENSG00000181690		0.463	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLAG1	HGNC	protein_coding	OTTHUMT00000378212.1	-	0.00	34	0	C	NM_002655		57079116	-1	tier1	-	no_errors	ENST00000316981	ensembl	human	known	74_37	missense	53.49	20	23	SNP	1.000	G
PLCE1	51196	genome.wustl.edu	37	10	96005983	96005983	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:96005983C>A	ENST00000371380.3	+	7	2936	c.2701C>A	c.(2701-2703)Cca>Aca	p.P901T	PLCE1_ENST00000371375.1_Missense_Mutation_p.P593T|PLCE1_ENST00000260766.3_Missense_Mutation_p.P901T|PLCE1_ENST00000371385.3_Missense_Mutation_p.P593T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	901					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AACTGCCTCCCCAGCCAGCAG	0.527																																																	0													45.0	50.0	49.0					10																	96005983		2058	4200	6258	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2701C>A	10.37:g.96005983C>A	ENSP00000360431:p.Pro901Thr		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.P901T	ENST00000371380.3	37	c.2701	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	6.973	0.549429	0.13374	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.86	4.93	0.64822	.	0.209113	0.40385	N	0.001104	T	0.17152	0.0412	L	0.36672	1.1	0.30458	N	0.774599	P;B;B	0.35077	0.483;0.228;0.179	B;B;B	0.25140	0.057;0.058;0.057	T	0.12477	-1.0546	10	0.02654	T	1	.	11.3401	0.49527	0.0:0.8043:0.1276:0.0681	.	901;593;901	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	T	901;901;593;593	ENSP00000260766:P901T;ENSP00000360431:P901T;ENSP00000360438:P593T;ENSP00000360426:P593T	ENSP00000260766:P901T	P	+	1	0	PLCE1	95995973	0.854000	0.29725	0.985000	0.45067	0.446000	0.32137	2.144000	0.42197	2.788000	0.95919	0.585000	0.79938	CCA	PLCE1	-	NULL	ENSG00000138193		0.527	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3		0.00	25	0	C	NM_016341		96005983	+1			no_errors	ENST00000260766	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.910	A
PLD5	200150	genome.wustl.edu	37	1	242687455	242687455	+	Missense_Mutation	SNP	T	T	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:242687455T>G	ENST00000536534.2	-	1	365	c.124A>C	c.(124-126)Agc>Cgc	p.S42R	PLD5_ENST00000442594.2_5'UTR			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	42						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTGACGCTGCTGTAGAAGTTC	0.662																																																	0																																										SO:0001583	missense	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.124A>C	1.37:g.242687455T>G	ENSP00000440896:p.Ser42Arg		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	smart_PLipase_D/transphosphatidylase	p.S42R	ENST00000536534.2	37	c.124	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.322979	0.60634	.	.	ENSG00000180287	ENST00000536534	T	0.51071	0.72	3.66	3.66	0.41972	.	.	.	.	.	T	0.44371	0.1290	N	0.08118	0	0.80722	D	1	D	0.55605	0.972	D	0.66497	0.944	T	0.50775	-0.8788	9	0.72032	D	0.01	.	9.8335	0.40956	0.0:0.0:0.0:1.0	.	42	Q8N7P1	PLD5_HUMAN	R	42	ENSP00000440896:S42R	ENSP00000355503:S42R	S	-	1	0	PLD5	240754078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.118000	0.64673	1.535000	0.49220	0.374000	0.22700	AGC	PLD5	-	NULL	ENSG00000180287		0.662	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	-	0.00	83	0	T	NM_152666		242687455	-1	tier1	-	no_errors	ENST00000536534	ensembl	human	known	74_37	missense	39.22	61	40	SNP	1.000	G
PLEKHH2	130271	genome.wustl.edu	37	2	43971084	43971084	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:43971084C>T	ENST00000282406.4	+	23	3621	c.3511C>T	c.(3511-3513)Cct>Tct	p.P1171S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1171	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CACTGACGATCCTTCTGGCAG	0.453																																																	0													127.0	116.0	120.0					2																	43971084		2203	4300	6503	SO:0001583	missense	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3511C>T	2.37:g.43971084C>T	ENSP00000282406:p.Pro1171Ser		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.P1171S	ENST00000282406.4	37	c.3511	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034203	0.93575	.	.	ENSG00000152527	ENST00000282406	T	0.63580	-0.05	5.76	5.76	0.90799	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.72353	2.195	0.80722	D	1	D	0.67145	0.996	D	0.64410	0.925	T	0.78674	-0.2112	10	0.56958	D	0.05	-21.3064	19.9857	0.97347	0.0:1.0:0.0:0.0	.	1171	Q8IVE3	PKHH2_HUMAN	S	1171	ENSP00000282406:P1171S	ENSP00000282406:P1171S	P	+	1	0	PLEKHH2	43824588	1.000000	0.71417	0.806000	0.32338	0.946000	0.59487	7.487000	0.81328	2.706000	0.92434	0.655000	0.94253	CCT	PLEKHH2	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000152527		0.453	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1		0.00	13	0	C	NM_172069		43971084	+1			no_errors	ENST00000282406	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	T
PLXDC2	84898	genome.wustl.edu	37	10	20568869	20568869	+	3'UTR	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:20568869G>A	ENST00000377252.4	+	0	2552				PLXDC2_ENST00000377242.3_3'UTR|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2						multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GCTGTAGCCTGAAGAAGACAA	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.*121G>A	10.37:g.20568869G>A			Q96E59|Q96PD9|Q96SU9	RNA	SNP	-	NULL	ENST00000377252.4	37	NULL	CCDS7132.1	10																																																																																			PLXDC2	-	-	ENSG00000120594		0.368	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	HGNC	protein_coding	OTTHUMT00000047101.2	-	0.00	18	0	G	NM_032812		20568869	+1	tier1	-	no_errors	ENST00000377238	ensembl	human	known	74_37	rna	42.11	11	8	SNP	1.000	A
PPARGC1A	10891	genome.wustl.edu	37	4	23815983	23815983	+	Missense_Mutation	SNP	G	G	A	rs199772441		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:23815983G>A	ENST00000264867.2	-	8	1242	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	375	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.R375W(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGACTGGGCCGCTTGGTCTTC	0.478													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17543	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(29;694 744 13796 34866 44181)												1	Substitution - Missense(1)	large_intestine(1)											80.0	86.0	84.0					4																	23815983		2203	4300	6503	SO:0001583	missense	0			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1123C>T	4.37:g.23815983G>A	ENSP00000264867:p.Arg375Trp		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R375W	ENST00000264867.2	37	c.1123	CCDS3429.1	4	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.13	3.555818	0.65425	.	.	ENSG00000109819	ENST00000264867	T	0.45276	0.9	6.16	4.39	0.52855	.	0.051310	0.85682	D	0.000000	T	0.66528	0.2798	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.72507	-0.4272	10	0.87932	D	0	-7.0295	15.4433	0.75204	0.0:0.0:0.7295:0.2705	.	375	Q9UBK2	PRGC1_HUMAN	W	375	ENSP00000264867:R375W	ENSP00000264867:R375W	R	-	1	2	PPARGC1A	23425081	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	5.106000	0.64597	0.862000	0.35528	-0.188000	0.12872	CGG	PPARGC1A	-	NULL	ENSG00000109819		0.478	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1		0.00	16	0	G	NM_013261		23815983	-1			no_errors	ENST00000264867	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	A
PPFIA2	8499	genome.wustl.edu	37	12	81760937	81760937	+	Missense_Mutation	SNP	G	G	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:81760937G>C	ENST00000549396.1	-	14	1655	c.1495C>G	c.(1495-1497)Caa>Gaa	p.Q499E	PPFIA2_ENST00000541570.2_Missense_Mutation_p.Q66E|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q425E|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q481E|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q481E|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q346E|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q499E|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q499E|PPFIA2_ENST00000550584.2_Missense_Mutation_p.Q499E|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q400E|PPFIA2_ENST00000541017.1_5'UTR	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	499	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTGATTCTTGAATTAAAACA	0.214																																																	0													21.0	18.0	19.0					12																	81760937		1409	3225	4634	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1495C>G	12.37:g.81760937G>C	ENSP00000450337:p.Gln499Glu		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.Q499E	ENST00000549396.1	37	c.1495	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205234	0.39003	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058;ENST00000548670	T;T;T;T;T;T;T;T;T	0.44881	2.24;2.23;1.9;1.92;2.24;2.24;1.9;2.25;0.91	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	L	0.40543	1.245	0.80722	D	1	B	0.26744	0.158	B	0.19148	0.024	T	0.08848	-1.0702	10	0.32370	T	0.25	-23.5003	19.5675	0.95401	0.0:0.0:1.0:0.0	.	499	O75334	LIPA2_HUMAN	E	499;481;66;425;510;481;499;400;499;80;66	ENSP00000450337:Q499E;ENSP00000450298:Q481E;ENSP00000438337:Q66E;ENSP00000385093:Q425E;ENSP00000327416:Q481E;ENSP00000449338:Q499E;ENSP00000388373:Q400E;ENSP00000447868:Q499E;ENSP00000448941:Q80E	ENSP00000327416:Q481E	Q	-	1	0	PPFIA2	80285068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.068000	0.93961	2.707000	0.92482	0.637000	0.83480	CAA	PPFIA2	-	NULL	ENSG00000139220		0.214	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0.00	99	0	G			81760937	-1	tier1	-	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	67.06	27	57	SNP	1.000	C
PPIP5K2	23262	genome.wustl.edu	37	5	102465376	102465376	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:102465376C>T	ENST00000358359.3	+	2	592	c.83C>T	c.(82-84)gCa>gTa	p.A28V	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A28V|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.A28V	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	28					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTCCACCATGCAGATGAAGAC	0.368																																																	0													106.0	102.0	103.0					5																	102465376		2203	4300	6503	SO:0001583	missense	0			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.83C>T	5.37:g.102465376C>T	ENSP00000351126:p.Ala28Val		A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.A28V	ENST00000358359.3	37	c.83		5	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956390	0.53293	.	.	ENSG00000145725	ENST00000515845;ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.14022	2.54;2.54;2.54	5.66	4.75	0.60458	.	0.320500	0.30118	N	0.010366	T	0.07683	0.0193	N	0.08118	0	0.29798	N	0.832646	B;B	0.29341	0.001;0.242	B;B	0.26310	0.001;0.068	T	0.10064	-1.0646	10	0.44086	T	0.13	.	13.1807	0.59653	0.0:0.8395:0.1605:0.0	.	28;28	O43314-2;O43314	.;VIP2_HUMAN	V	28	ENSP00000313070:A28V;ENSP00000351126:A28V;ENSP00000416016:A28V	ENSP00000313070:A28V	A	+	2	0	PPIP5K2	102493275	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.697000	0.37784	2.831000	0.97527	0.650000	0.86243	GCA	PPIP5K2	-	NULL	ENSG00000145725		0.368	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	-	0.00	24	0	C	NM_015216		102465376	+1	tier1	-	no_errors	ENST00000358359	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T
PPM1K	152926	genome.wustl.edu	37	4	89198310	89198310	+	Missense_Mutation	SNP	G	G	T	rs150935940		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:89198310G>T	ENST00000608933.1	-	3	915	c.526C>A	c.(526-528)Cgc>Agc	p.R176S	PPM1K_ENST00000508256.1_5'UTR|PPM1K_ENST00000506423.1_5'UTR|RNU6-112P_ENST00000363599.1_RNA|PPM1K_ENST00000315194.4_Missense_Mutation_p.R176S|PPM1K_ENST00000295908.7_Missense_Mutation_p.R176S|PPM1K_ENST00000514204.1_Missense_Mutation_p.R176S	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	176	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GCAGACAGGCGGGCATGACTC	0.448																																																	0													79.0	83.0	81.0					4																	89198310		2203	4300	6503	SO:0001583	missense	0			BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.526C>A	4.37:g.89198310G>T	ENSP00000477341:p.Arg176Ser		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.R176S	ENST00000608933.1	37	c.526	CCDS3629.1	4	.	.	.	.	.	.	.	.	.	.	G	3.367	-0.129230	0.06753	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.16196	2.36;2.36;2.36	5.07	5.07	0.68467	Protein phosphatase 2C-like (5);	0.666605	0.16081	N	0.230522	T	0.07954	0.0199	N	0.04090	-0.28	0.28535	N	0.912413	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.11941	-1.0567	10	0.07813	T	0.8	-2.3841	14.0228	0.64568	0.0:0.1524:0.8476:0.0	.	176;176	Q8N3J5-2;Q8N3J5	.;PPM1K_HUMAN	S	176	ENSP00000295908:R176S;ENSP00000424155:R176S;ENSP00000324761:R176S	ENSP00000295908:R176S	R	-	1	0	PPM1K	89417334	1.000000	0.71417	0.998000	0.56505	0.303000	0.27691	3.038000	0.49783	2.822000	0.97130	0.650000	0.86243	CGC	PPM1K	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000163644		0.448	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1K	HGNC	protein_coding	OTTHUMT00000253553.4		0.00	55	0	G	NM_152542		89198310	-1			no_errors	ENST00000608933	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T
PRC1	9055	genome.wustl.edu	37	15	91525181	91525181	+	Missense_Mutation	SNP	C	C	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr15:91525181C>G	ENST00000361188.5	-	4	1509	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	PRC1_ENST00000394249.3_Missense_Mutation_p.E100Q|PRC1_ENST00000442656.2_Missense_Mutation_p.E59Q|PRC1_ENST00000556129.1_5'Flank|PRC1_ENST00000361919.3_Missense_Mutation_p.E100Q|PRC1-AS1_ENST00000554388.1_RNA					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AAATCTTTTTCTAGTTGCAAG	0.413																																																	0													173.0	179.0	177.0					15																	91525181		2198	4298	6496	SO:0001583	missense	0			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.298G>C	15.37:g.91525181C>G	ENSP00000354679:p.Glu100Gln			Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.E100Q	ENST00000361188.5	37	c.298	CCDS45352.1	15	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107226	0.77096	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.41	5.41	0.78517	.	0.099212	0.64402	D	0.000003	T	0.59689	0.2212	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.96;0.991;0.991;0.991;0.994	T	0.56323	-0.7998	10	0.25106	T	0.35	.	18.129	0.89595	0.0:1.0:0.0:0.0	.	48;59;100;100;100	B4E238;O43663-3;F8W9B5;O43663-2;O43663	.;.;.;.;PRC1_HUMAN	Q	100;100;100;59	ENSP00000377793:E100Q;ENSP00000354618:E100Q;ENSP00000354679:E100Q;ENSP00000409549:E59Q	ENSP00000354679:E100Q	E	-	1	0	PRC1	89326185	1.000000	0.71417	0.999000	0.59377	0.236000	0.25371	5.206000	0.65192	2.826000	0.97356	0.655000	0.94253	GAA	PRC1	-	pfam_MAP65_Ase1_PRC1	ENSG00000198901		0.413	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRC1	HGNC	protein_coding	OTTHUMT00000414760.1	-	0.00	40	0	C	NM_003981		91525181	-1	tier1	-	no_errors	ENST00000394249	ensembl	human	known	74_37	missense	18.33	49	11	SNP	1.000	G
PRR12	57479	genome.wustl.edu	37	19	50102744	50102744	+	Silent	SNP	C	C	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:50102744C>G	ENST00000418929.2	+	5	3906	c.3894C>G	c.(3892-3894)ctC>ctG	p.L1298L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCCACCACTCTACCAGGCGG	0.647																																																	0													9.0	12.0	11.0					19																	50102744		2054	4188	6242	SO:0001819	synonymous_variant	0			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3894C>G	19.37:g.50102744C>G			E9PB06|Q8N4J6	Silent	SNP	NULL	p.L1298	ENST00000418929.2	37	c.3894	CCDS46143.1	19																																																																																			PRR12	-	NULL	ENSG00000126464		0.647	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	-	0.00	49	0	C	NM_020719		50102744	+1	tier1	-	no_errors	ENST00000418929	ensembl	human	novel	74_37	silent	26.92	57	21	SNP	0.858	G
PSD3	23362	genome.wustl.edu	37	8	18490287	18490287	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:18490287G>A	ENST00000327040.8	-	11	2348	c.2246C>T	c.(2245-2247)tCa>tTa	p.S749L	PSD3_ENST00000523619.1_Missense_Mutation_p.S684L|PSD3_ENST00000440756.2_Missense_Mutation_p.S751L|PSD3_ENST00000428502.2_Missense_Mutation_p.S78L|PSD3_ENST00000286485.8_Missense_Mutation_p.S215L	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	750					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AGTACTTTCTGAGGGAGACTT	0.373																																																	0													151.0	124.0	133.0					8																	18490287		2203	4300	6503	SO:0001583	missense	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2246C>T	8.37:g.18490287G>A	ENSP00000324127:p.Ser749Leu		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.S751L	ENST00000327040.8	37	c.2252	CCDS43720.1	8	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769086	0.69992	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.19938	2.76;2.74;2.11;2.75	5.93	5.93	0.95920	.	0.000000	0.45606	U	0.000356	T	0.32406	0.0828	M	0.72118	2.19	0.49687	D	0.999817	B;B;B;B	0.29835	0.125;0.243;0.16;0.258	B;B;B;B	0.35510	0.118;0.168;0.204;0.126	T	0.05257	-1.0896	10	0.62326	D	0.03	.	17.8445	0.88725	0.0:0.0:1.0:0.0	.	749;750;215;78	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	L	749;751;78;215;78;684	ENSP00000324127:S749L;ENSP00000401704:S751L;ENSP00000286485:S215L;ENSP00000430640:S684L	ENSP00000286485:S215L	S	-	2	0	PSD3	18534567	1.000000	0.71417	0.574000	0.28523	0.970000	0.65996	6.038000	0.70964	2.808000	0.96608	0.655000	0.94253	TCA	PSD3	-	NULL	ENSG00000156011		0.373	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374867.1	-	0.00	57	0	G	NM_015310		18490287	-1	tier1	-	no_errors	ENST00000440756	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.980	A
PSMG1	8624	genome.wustl.edu	37	21	40551903	40551904	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr21:40551903_40551904delAG	ENST00000331573.3	-	4	867_868	c.402_403delCT	c.(400-405)ctctgtfs	p.C135fs	PSMG1_ENST00000380900.2_Intron	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	135					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				CTGCACTGACAGAGAAAAACCT	0.371																																																	0																																										SO:0001589	frameshift_variant	0			AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"""Down syndrome critical region gene 2"""	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.402_403delCT	21.37:g.40551905_40551906delAG	ENSP00000329915:p.Cys135fs		B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Frame_Shift_Del	DEL	pirsf_Proteasome_assmbl_chp_1	p.C135fs	ENST00000331573.3	37	c.403_402	CCDS13660.1	21																																																																																			PSMG1	-	pirsf_Proteasome_assmbl_chp_1	ENSG00000183527		0.371	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMG1	HGNC	protein_coding	OTTHUMT00000141404.2		0.00	25	0	AG	NM_003720		40551904	-1	tier1		no_errors	ENST00000331573	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.986:0.079	-
PTPRD	5789	genome.wustl.edu	37	9	8484252	8484252	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:8484252C>T	ENST00000381196.4	-	27	3823	c.3280G>A	c.(3280-3282)Ggg>Agg	p.G1094R	PTPRD_ENST00000360074.4_Missense_Mutation_p.G1081R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1072R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G683R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G683R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G673R|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1094R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1094R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G673R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G680R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G680R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1094	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCTGCAGCCCACCAGCACTG	0.483										TSP Lung(15;0.13)																																							0													143.0	118.0	126.0					9																	8484252		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3280G>A	9.37:g.8484252C>T	ENSP00000370593:p.Gly1094Arg		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.G1094R	ENST00000381196.4	37	c.3280	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	30	5.053649	0.93793	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16	6.06	6.06	0.98353	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D;P;D;P	0.89917	1.0;1.0;0.999;1.0;0.997;1.0;0.826;1.0;0.497	D;D;D;D;D;D;B;D;B	0.97110	1.0;0.989;0.963;0.999;0.995;1.0;0.347;0.993;0.134	T	0.74160	-0.3755	9	.	.	.	.	20.2312	0.98350	0.0:1.0:0.0:0.0	.	673;678;683;683;680;680;1081;1094;1094	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	1094;1094;1081;1072;683;673;680;680;1094;683;673	ENSP00000370593:G1094R;ENSP00000348812:G1094R;ENSP00000353187:G1081R;ENSP00000351293:G1072R;ENSP00000347373:G683R;ENSP00000380741:G673R;ENSP00000380735:G680R;ENSP00000440515:G680R;ENSP00000438164:G1094R;ENSP00000417093:G683R;ENSP00000380731:G673R	.	G	-	1	0	PTPRD	8474252	1.000000	0.71417	0.829000	0.32907	0.797000	0.45037	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GGG	PTPRD	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0.00	61	0	C			8484252	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	35.85	34	19	SNP	1.000	T
RALGAPA2	57186	genome.wustl.edu	37	20	20563841	20563841	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr20:20563841C>A	ENST00000202677.7	-	20	2567	c.2560G>T	c.(2560-2562)Ggc>Tgc	p.G854C		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	854					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTGGTACAGCCCAGAGTTGTG	0.448																																																	0													89.0	86.0	87.0					20																	20563841		1923	4125	6048	SO:0001583	missense	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2560G>T	20.37:g.20563841C>A	ENSP00000202677:p.Gly854Cys		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.G854C	ENST00000202677.7	37	c.2560	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.59|12.59	1.984185|1.984185	0.35036|0.35036	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	D|.	0.95035|.	-3.59|.	6.07|6.07	5.12|5.12	0.69794|0.69794	.|.	0.051398|.	0.85682|.	D|.	0.000000|.	T|T	0.75057|0.75057	0.3798|0.3798	M|M	0.73598|0.73598	2.24|2.24	0.51767|0.51767	D|D	0.999933|0.999933	D;P|.	0.61080|.	0.989;0.943|.	P;P|.	0.53518|.	0.728;0.503|.	T|T	0.75747|0.75747	-0.3209|-0.3209	10|5	0.59425|.	D|.	0.04|.	.|.	16.3721|16.3721	0.83368|0.83368	0.133:0.867:0.0:0.0|0.133:0.867:0.0:0.0	.|.	692;854|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	C|C	854|670	ENSP00000202677:G854C|.	ENSP00000202677:G854C|.	G|W	-|-	1|3	0|0	RALGAPA2|RALGAPA2	20511841|20511841	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.315000|0.315000	0.28087|0.28087	1.596000|1.596000	0.36718|0.36718	1.553000|1.553000	0.49476|0.49476	0.655000|0.655000	0.94253|0.94253	GGC|TGG	RALGAPA2	-	NULL	ENSG00000188559		0.448	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	-	0.00	49	0	C	NM_020343		20563841	-1	tier1	-	no_errors	ENST00000202677	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	A
RAP1GAP	5909	genome.wustl.edu	37	1	21934815	21934815	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:21934815G>T	ENST00000374765.4	-	17	1387	c.1187C>A	c.(1186-1188)aCg>aAg	p.T396K	RAP1GAP_ENST00000542643.2_Missense_Mutation_p.T396K|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.T396K|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.T460K|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.T427K	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	396	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)	p.T396M(1)|p.T427M(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CTCATAGAGCGTCTCCAGGAG	0.652																																																	2	Substitution - Missense(2)	central_nervous_system(2)											55.0	52.0	53.0					1																	21934815		2203	4300	6503	SO:0001583	missense	0			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1187C>A	1.37:g.21934815G>T	ENSP00000363897:p.Thr396Lys		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom	p.T460K	ENST00000374765.4	37	c.1379	CCDS218.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632410	0.87660	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	4.9	4.9	0.64082	Rap/ran-GAP (2);	0.054932	0.64402	D	0.000001	D	0.91821	0.7412	L	0.56769	1.78	0.58432	D	0.999999	P;P;B;P	0.42757	0.637;0.789;0.03;0.789	B;B;B;B	0.34180	0.109;0.177;0.009;0.134	D	0.92858	0.6303	10	0.62326	D	0.03	-10.0834	15.5443	0.76081	0.0:0.0:1.0:0.0	.	396;396;426;396	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	K	460;427;396;396;426;396	ENSP00000290101:T460K;ENSP00000363893:T427K;ENSP00000441661:T396K;ENSP00000363897:T396K	ENSP00000290101:T460K	T	-	2	0	RAP1GAP	21807402	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	3.686000	0.54685	2.267000	0.75376	0.407000	0.27541	ACG	RAP1GAP	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000076864		0.652	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GAP	HGNC	protein_coding	OTTHUMT00000019759.2		0.00	30	0	G	NM_002885		21934815	-1			no_errors	ENST00000290101	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T
RBMY1A1	5940	genome.wustl.edu	37	Y	23702662	23702662	+	Splice_Site	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chrY:23702662G>A	ENST00000382707.2	+	4	543		c.e4+1		RBMY1A1_ENST00000439108.2_Splice_Site|RBMY1A1_ENST00000303902.5_Splice_Site	NM_005058.2	NP_005049.1	P0DJD3	RBY1A_HUMAN	RNA binding motif protein, Y-linked, family 1, member A1						mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			lung(3)	3						GGGCACCTGGGTAATGTTTTA	0.398																																																	0													14.0	39.0	33.0					Y																	23702662		486	1713	2199	SO:0001630	splice_region_variant	0				CCDS14796.1	Yq11.23	2013-02-12	2003-09-12		ENSG00000234414	ENSG00000234414		"""RNA binding motif (RRM) containing"""	9912	protein-coding gene	gene with protein product		400006	"""RNA binding motif protein, Y chromosome, family 1, member A1"""	RBM1, RBM2		8269511, 9598316	Standard	XM_005262514		Approved	YRRM1, YRRM2		P0DJD3	OTTHUMG00000043592	ENST00000382707.2:c.391+1G>A	Y.37:g.23702662G>A			Q15376|Q15377|Q15414|Q6NSB5|Q86VU6|Q8NHR0	Splice_Site	SNP	-	e3+1	ENST00000382707.2	37	c.391+1	CCDS14796.1	Y																																																																																			RBMY1A1	-	-	ENSG00000234414		0.398	RBMY1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMY1A1	HGNC	protein_coding	OTTHUMT00000101933.2	-	0.00	298	0	G	NM_005058	Intron	23702662	+1	tier1	-	no_errors	ENST00000303902	ensembl	human	known	74_37	splice_site	11.81	127	17	SNP	0.474	A
RSU1	6251	genome.wustl.edu	37	10	16796955	16796955	+	Silent	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:16796955G>A	ENST00000377921.3	-	4	616	c.315C>T	c.(313-315)ttC>ttT	p.F105F	RSU1_ENST00000602389.1_Silent_p.F52F|RSU1_ENST00000345264.5_Silent_p.F105F|RSU1_ENST00000464074.2_5'UTR			Q15404	RSU1_HUMAN	Ras suppressor protein 1	105					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GCAGGGAGCCGAAGCCTCGTG	0.458																																																	0													81.0	88.0	85.0					10																	16796955		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.315C>T	10.37:g.16796955G>A			A8KA46|D3DRU3|Q6FI17	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.F105	ENST00000377921.3	37	c.315	CCDS7112.1	10																																																																																			RSU1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000148484		0.458	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RSU1	HGNC	protein_coding	OTTHUMT00000047006.1	-	0.00	69	0	G	NM_012425, NM_152724		16796955	-1	tier1	-	no_errors	ENST00000345264	ensembl	human	known	74_37	silent	16.90	58	12	SNP	0.999	A
RUFY3	22902	genome.wustl.edu	37	4	71634361	71634361	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:71634361G>A	ENST00000226328.4	+	5	1242	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RUFY3_ENST00000417478.2_Missense_Mutation_p.E287K|RUFY3_ENST00000502653.1_Missense_Mutation_p.E174K|RUFY3_ENST00000381006.3_Missense_Mutation_p.E227K|RUFY3_ENST00000536664.1_Missense_Mutation_p.E211K	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	227	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TATGAAAGGAGAAGACTTGGA	0.448																																																	0													198.0	187.0	191.0					4																	71634361		2203	4300	6503	SO:0001583	missense	0			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.679G>A	4.37:g.71634361G>A	ENSP00000226328:p.Glu227Lys		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run	p.E287K	ENST00000226328.4	37	c.859	CCDS3547.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.893582	0.97074	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	5.84	5.84	0.93424	RUN (1);	0.086905	0.85682	D	0.000000	T	0.45296	0.1335	M	0.85373	2.75	0.80722	D	1	D;P;D;P	0.64830	0.994;0.943;0.976;0.454	D;P;P;B	0.76071	0.987;0.704;0.897;0.135	T	0.36648	-0.9739	9	.	.	.	-22.2189	20.1346	0.98019	0.0:0.0:1.0:0.0	.	211;227;227;287	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	K	287;227;227;211;163;174	ENSP00000399771:E287K;ENSP00000370394:E227K;ENSP00000226328:E227K;ENSP00000443652:E211K;ENSP00000425574:E163K;ENSP00000425400:E174K	.	E	+	1	0	RUFY3	71853225	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.659000	0.98597	2.763000	0.94921	0.557000	0.71058	GAA	RUFY3	-	pfscan_Run	ENSG00000018189		0.448	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252161.2	-	0.00	71	0	G	NM_014961		71634361	+1	tier1	-	no_errors	ENST00000417478	ensembl	human	known	74_37	missense	44.44	25	20	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237991692	237991692	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:237991692G>T	ENST00000366574.2	+	102	14919	c.14602G>T	c.(14602-14604)Gat>Tat	p.D4868Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D4852Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D4874Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4868					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTAATTATTGATGCTTTTGG	0.403																																																	0													88.0	86.0	87.0					1																	237991692		1841	4089	5930	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14602G>T	1.37:g.237991692G>T	ENSP00000355533:p.Asp4868Tyr		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.D4874Y	ENST00000366574.2	37	c.14620	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317435	0.81469	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98947	-5.26;-5.24;-5.25	5.64	5.64	0.86602	.	0.000000	0.64402	U	0.000010	D	0.99477	0.9814	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.994;0.995	D	0.98358	1.0547	10	0.87932	D	0	-18.73	19.7167	0.96124	0.0:0.0:1.0:0.0	.	301;4868	F5H3C7;Q92736	.;RYR2_HUMAN	Y	4868;4874;4852;301	ENSP00000355533:D4868Y;ENSP00000353174:D4874Y;ENSP00000443798:D4852Y	ENSP00000353174:D4874Y	D	+	1	0	RYR2	236058315	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	9.813000	0.99286	2.667000	0.90743	0.655000	0.94253	GAT	RYR2	-	NULL	ENSG00000198626		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0.00	48	0	G	NM_001035		237991692	+1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
SCAP	22937	genome.wustl.edu	37	3	47462508	47462508	+	Silent	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:47462508G>A	ENST00000265565.5	-	11	1669	c.1257C>T	c.(1255-1257)ctC>ctT	p.L419L	SCAP_ENST00000545718.1_Silent_p.L27L|SCAP_ENST00000441517.2_Silent_p.L164L|SCAP_ENST00000465628.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	419	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CGACAGCAAAGAGACAGAACT	0.572											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(149;978 1908 29304 37806 46700)												0													113.0	105.0	108.0					3																	47462508		2203	4300	6503	SO:0001819	synonymous_variant	0			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1257C>T	3.37:g.47462508G>A		947	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	NULL	p.L158F	ENST00000265565.5	37	c.472	CCDS2755.2	3																																																																																			SCAP	-	NULL	ENSG00000114650		0.572	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	-	0.00	17	0	G	NM_012235		47462508	-1	tier1	-	no_errors	ENST00000320017	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	A
SDF2	6388	genome.wustl.edu	37	17	26988906	26988906	+	5'UTR	SNP	C	C	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:26988906C>G	ENST00000247020.4	-	0	287				SUPT6H_ENST00000347486.4_5'Flank|SDF2_ENST00000592250.1_Intron|SUPT6H_ENST00000314616.6_5'Flank	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2						protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CTAACTGTATCGCGGAGCCCC	0.577																																																	0													106.0	100.0	102.0					17																	26988906		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.-12G>C	17.37:g.26988906C>G			Q9BQ79	RNA	SNP	-	NULL	ENST00000247020.4	37	NULL	CCDS11238.1	17																																																																																			SDF2	-	-	ENSG00000132581		0.577	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDF2	HGNC	protein_coding	OTTHUMT00000255965.2	-	0.00	26	0	C	NM_006923		26988906	-1	tier1	-	no_errors	ENST00000585428	ensembl	human	known	74_37	rna	38.10	13	8	SNP	0.000	G
SEC22B	9554	genome.wustl.edu	37	1	145116193	145116193	+	RNA	DEL	G	G	-	rs66989703|rs372891418	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:145116193delG	ENST00000453618.1	+	0	1279							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGCACTGGCTGGGGCATTCTC	0.428													GGGG|GGGG|GGG|deletion	1833	0.366014	0.3116	0.4294	5008	,	,		69780	0.3502		0.3847	False		,,,				2504	0.3916																0																																												0			AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116193delG			A8K1G0	RNA	DEL	-	NULL	ENST00000453618.1	37	NULL		1																																																																																			SEC22B	-	-	ENSG00000223380		0.428	SEC22B-001	KNOWN	basic	processed_transcript	SEC22B	HGNC	processed_transcript	OTTHUMT00000038523.5		0.00	30	0	G	NM_004892		145116193	+1	tier1		no_errors	ENST00000453618	ensembl	human	known	74_37	rna	15.69	43	8	DEL	0.031	-
CIB1	10519	genome.wustl.edu	37	15	90771613	90771613	+	IGR	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr15:90771613G>A	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000411539.2_Missense_Mutation_p.G751E|SEMA4B_ENST00000332496.6_Missense_Mutation_p.G751E	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CTGAAGCAGGGGGAATGTGCC	0.617																																																	0													60.0	63.0	62.0					15																	90771613		2069	4219	6288	SO:0001628	intergenic_variant	0			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771613G>A			B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.G751E	ENST00000328649.6	37	c.2252	CCDS10360.1	15	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121509	0.77436	.	.	ENSG00000185033	ENST00000332496;ENST00000411539	T;T	0.81330	-1.48;-1.48	5.28	5.28	0.74379	.	0.508546	0.21370	N	0.075643	D	0.87962	0.6310	M	0.73598	2.24	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66497	0.944;0.944	D	0.88003	0.2757	10	0.54805	T	0.06	.	13.2413	0.59997	0.0:0.0:0.8412:0.1588	.	751;746	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	E	751	ENSP00000332204:G751E;ENSP00000394720:G751E	ENSP00000332204:G751E	G	+	2	0	SEMA4B	88572617	1.000000	0.71417	0.990000	0.47175	0.791000	0.44710	5.858000	0.69532	2.624000	0.88883	0.561000	0.74099	GGG	SEMA4B	-	NULL	ENSG00000185033		0.617	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000313419.1	-	0.00	24	0	G			90771613	+1	tier1	-	no_errors	ENST00000332496	ensembl	human	known	74_37	missense	39.47	23	15	SNP	0.997	A
SERPINB13	5275	genome.wustl.edu	37	18	61264278	61264278	+	Missense_Mutation	SNP	C	C	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:61264278C>G	ENST00000344731.5	+	8	959	c.857C>G	c.(856-858)cCc>cGc	p.P286R	SERPINB13_ENST00000269489.5_Missense_Mutation_p.P234R	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	286					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGCACTTGCCCCGGTTTGAG	0.478																																																	0													100.0	97.0	98.0					18																	61264278		2203	4300	6503	SO:0001583	missense	0			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.857C>G	18.37:g.61264278C>G	ENSP00000341584:p.Pro286Arg		A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.P286R	ENST00000344731.5	37	c.857	CCDS11985.1	18	.	.	.	.	.	.	.	.	.	.	C	32	5.125404	0.94429	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	T;D	0.97850	-0.01;-4.57	5.3	5.3	0.74995	Serpin domain (3);	0.000000	0.52532	D	0.000078	D	0.99230	0.9732	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98962	1.0798	10	0.87932	D	0	.	17.9629	0.89091	0.0:1.0:0.0:0.0	.	295;204;286	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	R	234;204;286	ENSP00000269489:P234R;ENSP00000341584:P286R	ENSP00000269489:P234R	P	+	2	0	SERPINB13	59415258	1.000000	0.71417	0.569000	0.28460	0.423000	0.31445	7.760000	0.85248	2.494000	0.84150	0.557000	0.71058	CCC	SERPINB13	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000197641		0.478	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB13	HGNC	protein_coding	OTTHUMT00000133798.1	-	0.00	50	0	C	NM_012397		61264278	+1	tier1	-	no_errors	ENST00000344731	ensembl	human	known	74_37	missense	42.31	30	22	SNP	1.000	G
SETD1B	23067	genome.wustl.edu	37	12	122247572	122247572	+	Missense_Mutation	SNP	T	T	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:122247572T>C	ENST00000604567.1	+	6	789	c.721T>C	c.(721-723)Tcc>Ccc	p.S241P	SETD1B_ENST00000267197.5_Missense_Mutation_p.S241P|SETD1B_ENST00000542440.1_Missense_Mutation_p.S241P			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	241					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						CTCCGGCTCCTCCTCTGTCAC	0.607																																																	0													60.0	63.0	62.0					12																	122247572		692	1591	2283	SO:0001583	missense	0			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.721T>C	12.37:g.122247572T>C	ENSP00000474253:p.Ser241Pro		F6MFW1	Missense_Mutation	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.S241P	ENST00000604567.1	37	c.721		12	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326582	0.24080	.	.	ENSG00000139718	ENST00000542440;ENST00000267197	D;D	0.94537	-3.45;-3.45	5.16	5.16	0.70880	.	.	.	.	.	D	0.92182	0.7521	L	0.46157	1.445	0.33656	D	0.609051	B	0.26081	0.141	B	0.28638	0.092	D	0.93099	0.6507	9	0.38643	T	0.18	.	15.0185	0.71609	0.0:0.0:0.0:1.0	.	241	Q9UPS6	SET1B_HUMAN	P	241	ENSP00000442924:S241P;ENSP00000267197:S241P	ENSP00000267197:S241P	S	+	1	0	SETD1B	120731955	0.995000	0.38212	0.996000	0.52242	0.992000	0.81027	4.838000	0.62803	1.952000	0.56665	0.379000	0.24179	TCC	SETD1B	-	NULL	ENSG00000139718		0.607	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1	-	0.00	36	0	T	XM_037523		122247572	+1	tier1	-	no_errors	ENST00000267197	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.942	C
SI	6476	genome.wustl.edu	37	3	164786915	164786915	+	Silent	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:164786915G>A	ENST00000264382.3	-	4	386	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	108	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)	GATTATCAACGAAGAAGCACC	0.358										HNSCC(35;0.089)																																							0													70.0	69.0	69.0					3																	164786915		2203	4300	6503	SO:0001819	synonymous_variant	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.324C>T	3.37:g.164786915G>A			A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.F108	ENST00000264382.3	37	c.324	CCDS3196.1	3																																																																																			SI	-	pfam_P_trefoil,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	ENSG00000090402		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0.00	52	0	G	NM_001041		164786915	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	silent	11.83	82	11	SNP	0.226	A
SKIDA1	387640	genome.wustl.edu	37	10	21805721	21805723	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	TGG	TGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:21805721_21805723delTGG	ENST00000449193.2	-	4	3281_3283	c.1029_1031delCCA	c.(1027-1032)caccat>cat	p.343_344HH>H	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Del_p.264_265HH>H	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	262	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											gtggtggtgatggtggtggtggt	0.724																																																	0										90,2466		19,52,1207						-4.1	0.9			5	261,5663		25,211,2726	no	coding	C10orf140	NM_207371.3		44,263,3933	A1A1,A1R,RR		4.4058,3.5211,4.1392				351,8129				SO:0001651	inframe_deletion	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1029_1031delCCA	10.37:g.21805730_21805732delTGG	ENSP00000410041:p.His351del		B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Del	DEL	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.H347in_frame_del	ENST00000449193.2	37	c.1031_1029	CCDS44363.1	10																																																																																			SKIDA1	-	NULL	ENSG00000180592		0.724	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2		0.00	59	0	TGG	NM_207371		21805723	-1	tier1		no_errors	ENST00000449193	ensembl	human	known	74_37	in_frame_del	10.94	57	7	DEL	1.000:1.000:1.000	-
SLAIN2	57606	genome.wustl.edu	37	4	48384732	48384732	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:48384732C>A	ENST00000264313.6	+	5	1428	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	SLAIN2_ENST00000512093.1_Missense_Mutation_p.P144H	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	337					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						GCAGTATACCCTGCTGTTAAC	0.453																																																	0													159.0	156.0	157.0					4																	48384732		2062	4201	6263	SO:0001583	missense	0			BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1010C>A	4.37:g.48384732C>A	ENSP00000264313:p.Pro337His		A8K4P1|Q8N5R3	Missense_Mutation	SNP	NULL	p.P337H	ENST00000264313.6	37	c.1010	CCDS47051.1	4	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212659	0.58452	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.77	5.77	0.91146	.	0.268974	0.41097	D	0.000943	T	0.49253	0.1546	L	0.46157	1.445	0.41969	D	0.990746	B;B	0.28783	0.025;0.222	B;B	0.23275	0.018;0.045	T	0.44922	-0.9296	9	0.34782	T	0.22	-10.3597	13.2175	0.59869	0.0:0.9277:0.0:0.0723	.	7;337	Q9H705;Q9P270	.;SLAI2_HUMAN	H	337;144	.	ENSP00000264313:P337H	P	+	2	0	SLAIN2	48079489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.707000	0.47143	2.723000	0.93209	0.655000	0.94253	CCT	SLAIN2	-	NULL	ENSG00000109171		0.453	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAIN2	HGNC	protein_coding	OTTHUMT00000365807.4	-	0.00	35	0	C	NM_020846		48384732	+1	tier1	-	no_errors	ENST00000264313	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	A
SLC10A5	347051	genome.wustl.edu	37	8	82606673	82606673	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:82606673G>A	ENST00000518568.1	-	1	1736	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	179						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						ACTGCCCCAAGAATTACTGGC	0.393																																																	0													50.0	55.0	53.0					8																	82606673		2203	4300	6503	SO:0001583	missense	0				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.535C>T	8.37:g.82606673G>A	ENSP00000428612:p.Leu179Phe		B2RN26	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.L179F	ENST00000518568.1	37	c.535	CCDS34915.1	8	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813867	0.70912	.	.	ENSG00000253598	ENST00000518568	T	0.15372	2.43	5.98	4.17	0.49024	.	0.000000	0.45361	D	0.000377	T	0.34454	0.0898	M	0.64997	1.995	0.40390	D	0.979533	D	0.76494	0.999	D	0.69479	0.964	T	0.06698	-1.0812	10	0.62326	D	0.03	-14.9434	9.2743	0.37690	0.0758:0.0:0.779:0.1452	.	179	Q5PT55	NTCP5_HUMAN	F	179	ENSP00000428612:L179F	ENSP00000428612:L179F	L	-	1	0	SLC10A5	82769228	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	4.026000	0.57232	0.834000	0.34852	0.563000	0.77884	CTT	SLC10A5	-	pfam_BilAc/Na_symport	ENSG00000253598		0.393	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A5	HGNC	protein_coding	OTTHUMT00000379736.1	-	0.00	15	0	G	XM_294493		82606673	-1	tier1	-	no_errors	ENST00000518568	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	A
SLC23A2	9962	genome.wustl.edu	37	20	4913292	4913292	+	5'UTR	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr20:4913292C>T	ENST00000379333.1	-	0	309				SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_5'UTR|SLC23A2_ENST00000424750.2_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2						L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CAGGATCAGCCGGCTCTTCTA	0.512																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.-84G>A	20.37:g.4913292C>T			B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	RNA	SNP	-	NULL	ENST00000379333.1	37	NULL	CCDS13085.1	20																																																																																			SLC23A2	-	-	ENSG00000089057		0.512	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	-	0.00	9	0	C			4913292	-1	tier1	-	no_errors	ENST00000468355	ensembl	human	known	74_37	rna	38.46	8	5	SNP	0.000	T
SLC25A44	9673	genome.wustl.edu	37	1	156180847	156180848	+	3'UTR	INS	-	-	TG	rs58631766|rs56120841		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr1:156180847_156180848insTG	ENST00000359511.4	+	0	1742_1743				PMF1_ENST00000368273.4_5'Flank|PMF1_ENST00000565805.1_5'Flank|PMF1-BGLAP_ENST00000320139.5_5'Flank|PMF1-BGLAP_ENST00000490491.1_5'Flank|PMF1_ENST00000368277.3_5'Flank|PMF1_ENST00000368279.3_5'Flank|PMF1_ENST00000567140.1_5'Flank|SLC25A44_ENST00000469537.1_3'UTR|PMF1-BGLAP_ENST00000368276.4_5'Flank	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TACTTTTGTTTtgtgtgtgtgt	0.47																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.*626->TG	1.37:g.156180856_156180857dupTG			O75034	RNA	INS	-	NULL	ENST00000359511.4	37	NULL	CCDS1133.1	1																																																																																			SLC25A44	-	-	ENSG00000160785		0.470	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1		0.00	17	0	-	NM_014655		156180848	+1	tier1		no_errors	ENST00000469537	ensembl	human	known	74_37	rna	9.09	20	2	INS	0.081:0.000	TG
SLC46A2	57864	genome.wustl.edu	37	9	115651961	115651961	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:115651961C>T	ENST00000374228.4	-	1	1232	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	334					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						ACCCAGGAAGCTGGTGATGAA	0.557																																																	0													103.0	88.0	93.0					9																	115651961		2203	4300	6503	SO:0001583	missense	0			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.1001G>A	9.37:g.115651961C>T	ENSP00000363345:p.Ser334Asn		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG	p.S334N	ENST00000374228.4	37	c.1001	CCDS6786.1	9	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885244	0.91814	.	.	ENSG00000119457	ENST00000374228	D	0.81659	-1.52	5.66	5.66	0.87406	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88247	0.6385	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84614	0.0680	10	0.23891	T	0.37	-35.9189	19.4067	0.94649	0.0:1.0:0.0:0.0	.	334	Q9BY10	TSCOT_HUMAN	N	334	ENSP00000363345:S334N	ENSP00000363345:S334N	S	-	2	0	SLC46A2	114691782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.699000	0.84547	2.683000	0.91414	0.555000	0.69702	AGC	SLC46A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000119457		0.557	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC46A2	HGNC	protein_coding	OTTHUMT00000053702.1		0.00	22	0	C	NM_033051		115651961	-1			no_errors	ENST00000374228	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
SLC4A11	83959	genome.wustl.edu	37	20	3211194	3211194	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr20:3211194delA	ENST00000380056.3	-	11	1477	c.1430delT	c.(1429-1431)ttcfs	p.F477fs	SLC4A11_ENST00000380059.3_Frame_Shift_Del_p.F504fs|SLC4A11_ENST00000539553.2_Frame_Shift_Del_p.F461fs|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	477	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCTGAGGTTGAAAAAGGCATA	0.527																																					NSCLC(190;922 2139 10266 10292 38692)												0													107.0	106.0	107.0					20																	3211194		2203	4300	6503	SO:0001589	frameshift_variant	0			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1430delT	20.37:g.3211194delA	ENSP00000369396:p.Phe477fs		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Frame_Shift_Del	DEL	pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.F504fs	ENST00000380056.3	37	c.1511	CCDS13052.1	20																																																																																			SLC4A11	-	pfam_HCO3_transpt_C	ENSG00000088836		0.527	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1		0.00	17	0	A			3211194	-1	tier1		no_errors	ENST00000380059	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	1.000	-
SMOC1	64093	genome.wustl.edu	37	14	70477552	70477552	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:70477552C>T	ENST00000381280.4	+	8	999	c.746C>T	c.(745-747)cCt>cTt	p.P249L	SMOC1_ENST00000361956.3_Missense_Mutation_p.P249L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	249	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.P249H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATTGTCATCCCTGAATGTGCC	0.592																																																	1	Substitution - Missense(1)	lung(1)											101.0	106.0	104.0					14																	70477552		2203	4300	6503	SO:0001583	missense	0			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.746C>T	14.37:g.70477552C>T	ENSP00000370680:p.Pro249Leu		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.P249L	ENST00000381280.4	37	c.746	CCDS9798.1	14	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559010	0.86231	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	D;D	0.89343	-2.5;-2.5	5.47	5.47	0.80525	Thyroglobulin type-1 (5);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95452	0.8523	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95667	0.8720	10	0.87932	D	0	-13.5164	19.6781	0.95945	0.0:1.0:0.0:0.0	.	249;249	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	L	249	ENSP00000355110:P249L;ENSP00000370680:P249L	ENSP00000355110:P249L	P	+	2	0	SMOC1	69547305	1.000000	0.71417	0.991000	0.47740	0.497000	0.33675	7.776000	0.85560	2.728000	0.93425	0.557000	0.71058	CCT	SMOC1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000198732		0.592	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMOC1	HGNC	protein_coding	OTTHUMT00000412467.1		0.00	31	0	C			70477552	+1			no_errors	ENST00000361956	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T
SNAI1	6615	genome.wustl.edu	37	20	48600834	48600834	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr20:48600834G>A	ENST00000244050.2	+	2	617	c.556G>A	c.(556-558)Ggg>Agg	p.G186R		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	186	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGGAACCTGCGGGAAGGCCTT	0.622																																																	0													26.0	25.0	26.0					20																	48600834		2203	4300	6503	SO:0001583	missense	0			AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.556G>A	20.37:g.48600834G>A	ENSP00000244050:p.Gly186Arg		B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G186R	ENST00000244050.2	37	c.556	CCDS13423.1	20	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768518	0.90020	.	.	ENSG00000124216	ENST00000244050	T	0.07444	3.19	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50432	-0.8829	10	0.72032	D	0.01	-25.2652	17.7592	0.88460	0.0:0.0:1.0:0.0	.	186	O95863	SNAI1_HUMAN	R	186	ENSP00000244050:G186R	ENSP00000244050:G186R	G	+	1	0	SNAI1	48034241	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	9.420000	0.97426	2.256000	0.74724	0.557000	0.71058	GGG	SNAI1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124216		0.622	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	HGNC	protein_coding	OTTHUMT00000080350.1	-	0.00	34	0	G			48600834	+1	tier1	-	no_errors	ENST00000244050	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	A
SNHG14	104472715	genome.wustl.edu	37	15	25415878	25415878	+	RNA	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr15:25415878G>A	ENST00000441592.2	+	0	0				SNHG14_ENST00000553149.1_RNA|SNORD115-1_ENST00000364961.1_RNA|SNORD115-2_ENST00000362842.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TTGTGTTGATGATGAGAACCT	0.527																																																	0													247.0	267.0	261.0					15																	25415878		876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25415878G>A				RNA	SNP	-	NULL	ENST00000441592.2	37	NULL		15																																																																																			SNORD115-1	-	-	ENSG00000201831		0.527	SNHG14-009	KNOWN	basic	antisense	SNORD115-1	HGNC	processed_transcript	OTTHUMT00000126736.3	-	0.00	57	0	G			25415878	+1	tier1	-	no_errors	ENST00000364961	ensembl	human	known	74_37	rna	18.00	41	9	SNP	0.002	A
SOS1	6654	genome.wustl.edu	37	2	39249845	39249845	+	Missense_Mutation	SNP	T	T	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:39249845T>A	ENST00000426016.1	-	11	1810	c.1724A>T	c.(1723-1725)tAt>tTt	p.Y575F	SOS1_ENST00000395038.2_Missense_Mutation_p.Y575F|SOS1_ENST00000402219.2_Missense_Mutation_p.Y575F|SOS1_ENST00000472480.1_5'Flank			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	575					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TGCAAATCTATAAACATCAGC	0.403									Noonan syndrome																																								0													148.0	144.0	145.0					2																	39249845		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1724A>T	2.37:g.39249845T>A	ENSP00000387784:p.Tyr575Phe		A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Y575F	ENST00000426016.1	37	c.1724	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.223791	0.79576	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.29142	1.58;1.58;1.58	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.66921	-0.5801	10	0.62326	D	0.03	.	16.1027	0.81194	0.0:0.0:0.0:1.0	.	307;575	F5GX06;Q07889	.;SOS1_HUMAN	F	575;575;307;575;575	ENSP00000387784:Y575F;ENSP00000384675:Y575F;ENSP00000378479:Y575F	ENSP00000263879:Y575F	Y	-	2	0	SOS1	39103349	1.000000	0.71417	0.897000	0.35233	0.980000	0.70556	7.930000	0.87610	2.198000	0.70561	0.455000	0.32223	TAT	SOS1	-	superfamily_Ras_GEF_dom	ENSG00000115904		0.403	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3		0.00	39	0	T	NM_005633		39249845	-1			no_errors	ENST00000402219	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	A
SPICE1	152185	genome.wustl.edu	37	3	113187975	113187975	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:113187975G>T	ENST00000295872.4	-	8	981	c.722C>A	c.(721-723)tCa>tAa	p.S241*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	241					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AAGAGCAGATGATGGCGTTCC	0.388																																																	0													120.0	115.0	117.0					3																	113187975		2203	4300	6503	SO:0001587	stop_gained	0			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.722C>A	3.37:g.113187975G>T	ENSP00000295872:p.Ser241*		D3DN72|Q8WUX6	Nonsense_Mutation	SNP	NULL	p.S241*	ENST00000295872.4	37	c.722	CCDS2973.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.67|18.67	3.673047|3.673047	0.67928|0.67928	.|.	.|.	ENSG00000163611|ENSG00000163611	ENST00000467618|ENST00000295872	.|.	.|.	.|.	4.91|4.91	4.03|4.03	0.46877|0.46877	.|.	.|0.682300	.|0.14872	.|N	.|0.293489	T|.	0.28863|.	0.0716|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24693|.	-1.0153|.	3|.	.|0.06365	.|T	.|0.9	-1.2091|-1.2091	11.279|11.279	0.49184|0.49184	0.0865:0.0:0.9135:0.0|0.0865:0.0:0.9135:0.0	.|.	.|.	.|.	.|.	N|X	53|241	.|.	.|ENSP00000295872:S241X	H|S	-|-	1|2	0|0	SPICE1|SPICE1	114670665|114670665	0.075000|0.075000	0.21258|0.21258	0.010000|0.010000	0.14722|0.14722	0.016000|0.016000	0.09150|0.09150	2.947000|2.947000	0.49058|0.49058	1.164000|1.164000	0.42652|0.42652	0.591000|0.591000	0.81541|0.81541	CAT|TCA	SPICE1	-	NULL	ENSG00000163611		0.388	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	-	0.00	51	0	G	NM_144718		113187975	-1	tier1	-	no_errors	ENST00000295872	ensembl	human	known	74_37	nonsense	27.03	27	10	SNP	0.023	T
SPOPL	339745	genome.wustl.edu	37	2	139326574	139326574	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:139326574C>A	ENST00000280098.4	+	11	1482	c.1103C>A	c.(1102-1104)gCa>gAa	p.A368E	AC092620.2_ENST00000458007.2_RNA	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	368					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CATTTAGTAGCAGAAGCCTTT	0.408																																																	0													256.0	259.0	258.0					2																	139326574		2203	4300	6503	SO:0001583	missense	0				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.1103C>A	2.37:g.139326574C>A	ENSP00000280098:p.Ala368Glu			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.A368E	ENST00000280098.4	37	c.1103	CCDS33298.1	2	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029587	0.54790	.	.	ENSG00000144228	ENST00000280098	T	0.70631	-0.5	5.97	5.97	0.96955	.	0.095697	0.64402	D	0.000001	T	0.62307	0.2417	L	0.29908	0.895	0.80722	D	1	B	0.14012	0.009	B	0.13407	0.009	T	0.54695	-0.8255	9	.	.	.	0.2828	20.428	0.99075	0.0:1.0:0.0:0.0	.	368	Q6IQ16	SPOPL_HUMAN	E	368	ENSP00000280098:A368E	.	A	+	2	0	SPOPL	139043044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	GCA	SPOPL	-	NULL	ENSG00000144228		0.408	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOPL	HGNC	protein_coding	OTTHUMT00000331897.1		0.00	42	0	C			139326574	+1			no_errors	ENST00000280098	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A
SPTY2D1	144108	genome.wustl.edu	37	11	18637589	18637589	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:18637589G>T	ENST00000336349.5	-	3	467	c.232C>A	c.(232-234)Cat>Aat	p.H78N	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	78										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTCTTGTCATGTTTGAGCTCA	0.393																																																	0													161.0	135.0	144.0					11																	18637589		2199	4293	6492	SO:0001583	missense	0			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.232C>A	11.37:g.18637589G>T	ENSP00000337991:p.His78Asn		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.H78N	ENST00000336349.5	37	c.232	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	G	14.36	2.510705	0.44660	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.28454	1.61	5.63	5.63	0.86233	.	0.124848	0.56097	D	0.000030	T	0.49729	0.1574	M	0.62723	1.935	0.40565	D	0.981248	D	0.60575	0.988	P	0.57204	0.815	T	0.41698	-0.9494	10	0.41790	T	0.15	-11.2559	19.6738	0.95923	0.0:0.0:1.0:0.0	.	78	Q68D10	SPT2_HUMAN	N	78	ENSP00000337991:H78N	ENSP00000331447:H78N	H	-	1	0	SPTY2D1	18594165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.391000	0.79828	2.648000	0.89879	0.563000	0.77884	CAT	SPTY2D1	-	NULL	ENSG00000179119		0.393	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1		0.00	53	0	G	NM_194285		18637589	-1			no_errors	ENST00000336349	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
SRGAP1	57522	genome.wustl.edu	37	12	64456779	64456779	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:64456779G>A	ENST00000355086.3	+	7	1408	c.884G>A	c.(883-885)aGa>aAa	p.R295K	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R255K|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R295K|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	295	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GAAACCTCCAGACATGAGGGC	0.443																																																	0													105.0	96.0	99.0					12																	64456779		2203	4300	6503	SO:0001583	missense	0			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.884G>A	12.37:g.64456779G>A	ENSP00000347198:p.Arg295Lys		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R295K	ENST00000355086.3	37	c.884	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451031	0.63290	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.53206	0.63;0.63;0.63	4.65	4.65	0.58169	.	0.000000	0.38005	U	0.001853	T	0.36413	0.0966	N	0.21097	0.63	0.80722	D	1	B;B;B	0.15473	0.004;0.006;0.013	B;B;B	0.20577	0.004;0.03;0.03	T	0.10042	-1.0647	9	.	.	.	.	18.8491	0.92220	0.0:0.0:1.0:0.0	.	295;255;295	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	K	295;295;255	ENSP00000347198:R295K;ENSP00000350480:R295K;ENSP00000437948:R255K	.	R	+	2	0	SRGAP1	62743046	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.519000	0.98025	2.868000	0.98415	0.557000	0.71058	AGA	SRGAP1	-	NULL	ENSG00000196935		0.443	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	-	0.00	58	0	G			64456779	+1	tier1	-	no_errors	ENST00000355086	ensembl	human	known	74_37	missense	16.67	65	13	SNP	1.000	A
TANC1	85461	genome.wustl.edu	37	2	160087164	160087165	+	Frame_Shift_Ins	INS	-	-	GC	rs373480339		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:160087164_160087165insGC	ENST00000263635.6	+	27	5464_5465	c.5227_5228insGC	c.(5227-5229)agcfs	p.S1743fs	TANC1_ENST00000454300.1_Frame_Shift_Ins_p.S1637fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1743					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCCAAGCCGCAGCTGGCACTGT	0.584																																																	0																																										SO:0001589	frameshift_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.5228_5229dupGC	2.37:g.160087165_160087166dupGC	ENSP00000263635:p.Ser1743fs		C9JD88|Q49AI8	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.W1744fs	ENST00000263635.6	37	c.5227_5228	CCDS42766.1	2																																																																																			TANC1	-	NULL	ENSG00000115183		0.584	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1		0.00	25	0	-			160087165	+1	tier1		no_errors	ENST00000263635	ensembl	human	known	74_37	frame_shift_ins	12.90	27	4	INS	0.129:0.681	GC
TBCCD1	55171	genome.wustl.edu	37	3	186281915	186281915	+	Silent	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:186281915G>T	ENST00000424280.1	-	2	683	c.204C>A	c.(202-204)gcC>gcA	p.A68A	TBCCD1_ENST00000338733.5_Silent_p.A68A|TBCCD1_ENST00000446782.1_Intron	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	68					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CCAGGTCCTTGGCCAACTGCA	0.517																																																	0													65.0	59.0	61.0					3																	186281915		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.204C>A	3.37:g.186281915G>T			B3KW69|D3DNU6|G5E9J4	Silent	SNP	pfam_Tubulin-bd_cofactor_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.A68	ENST00000424280.1	37	c.204	CCDS3276.1	3																																																																																			TBCCD1	-	NULL	ENSG00000113838		0.517	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCCD1	HGNC	protein_coding	OTTHUMT00000344774.1		0.00	27	0	G	NM_018138		186281915	-1			no_errors	ENST00000338733	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.528	T
TENM2	57451	genome.wustl.edu	37	5	167675195	167675195	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:167675195delC	ENST00000518659.1	+	27	7290	c.7251delC	c.(7249-7251)gacfs	p.D2417fs	TENM2_ENST00000520394.1_Frame_Shift_Del_p.D2178fs|TENM2_ENST00000519204.1_Frame_Shift_Del_p.D2296fs|TENM2_ENST00000403607.2_Frame_Shift_Del_p.D2241fs|TENM2_ENST00000545108.1_Frame_Shift_Del_p.D2416fs	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2417					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GACTCTATGACCCCCTGACCA	0.522																																																	0													90.0	94.0	93.0					5																	167675195		2009	4186	6195	SO:0001589	frameshift_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7251delC	5.37:g.167675195delC	ENSP00000429430:p.Asp2417fs		Q9ULU2	Frame_Shift_Del	DEL	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.L2419fs	ENST00000518659.1	37	c.7251		5																																																																																			TENM2	-	tigrfam_Rhs_assc_core	ENSG00000145934		0.522	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1		0.00	28	0	C	NM_001122679		167675195	+1	tier1		no_errors	ENST00000518659	ensembl	human	known	74_37	frame_shift_del	10.00	27	3	DEL	1.000	-
TET2	54790	genome.wustl.edu	37	4	106157695	106157695	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr4:106157695C>A	ENST00000540549.1	+	3	3456	c.2596C>A	c.(2596-2598)Caa>Aaa	p.Q866K	TET2_ENST00000394764.1_Missense_Mutation_p.Q866K|TET2_ENST00000513237.1_Missense_Mutation_p.Q887K|TET2_ENST00000380013.4_Missense_Mutation_p.Q866K|TET2_ENST00000545826.1_Missense_Mutation_p.Q866K|TET2_ENST00000305737.2_Missense_Mutation_p.Q866K|TET2_ENST00000413648.2_Missense_Mutation_p.Q866K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	866	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.Q866*(3)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GCATCACATGCAATATTTTCC	0.383			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(3)											71.0	68.0	69.0					4																	106157695		2203	4300	6503	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2596C>A	4.37:g.106157695C>A	ENSP00000442788:p.Gln866Lys		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.Q866K	ENST00000540549.1	37	c.2596	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387836	0.61956	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.12569	2.73;3.8;2.67;3.79;3.8;2.73;2.79	5.79	5.79	0.91817	.	3.057810	0.01498	N	0.017364	T	0.21962	0.0529	L	0.34521	1.04	0.43678	D	0.996115	P;P;P	0.51351	0.518;0.518;0.944	B;B;B	0.43052	0.088;0.088;0.406	T	0.44907	-0.9297	10	0.66056	D	0.02	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	887;866;866	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	K	866;866;866;887;866;866;866	ENSP00000306705:Q866K;ENSP00000442788:Q866K;ENSP00000442867:Q866K;ENSP00000425443:Q887K;ENSP00000369351:Q866K;ENSP00000378245:Q866K;ENSP00000391448:Q866K	ENSP00000265149:Q866K	Q	+	1	0	TET2	106377144	1.000000	0.71417	0.921000	0.36526	0.981000	0.71138	4.494000	0.60347	2.733000	0.93635	0.655000	0.94253	CAA	TET2	-	NULL	ENSG00000168769		0.383	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2		0.00	22	0	C	NM_017628		106157695	+1			no_errors	ENST00000380013	ensembl	human	known	74_37	missense	14.29	12	2	SNP	1.000	A
TET3	200424	genome.wustl.edu	37	2	74327953	74327953	+	Silent	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:74327953C>T	ENST00000409262.3	+	9	3633	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1211					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGCTGTTCCCACAGACGCCC	0.632																																																	0													20.0	23.0	22.0					2																	74327953		2077	4210	6287	SO:0001819	synonymous_variant	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3633C>T	2.37:g.74327953C>T			A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	NULL	p.P1211	ENST00000409262.3	37	c.3633	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.632	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4		0.00	20	0	C			74327953	+1			no_errors	ENST00000409262	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.780	T
TFAP2B	7021	genome.wustl.edu	37	6	50805745	50805745	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:50805745G>T	ENST00000393655.3	+	5	1048	c.879G>T	c.(877-879)ttG>ttT	p.L293F	TFAP2B_ENST00000263046.4_Missense_Mutation_p.L302F	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	293					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAATCGGTTTGAATTTACCCG	0.463																																					Pancreas(116;1373 2332 5475 10752)												0													93.0	98.0	96.0					6																	50805745		2203	4300	6503	SO:0001583	missense	0			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.879G>T	6.37:g.50805745G>T	ENSP00000377265:p.Leu293Phe		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.L302F	ENST00000393655.3	37	c.906	CCDS4934.2	6	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928102	0.73327	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.98012	-4.66;-4.66	5.45	5.45	0.79879	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99111	0.9694	M	0.92268	3.29	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99505	1.0954	10	0.87932	D	0	-11.4004	19.6454	0.95775	0.0:0.0:1.0:0.0	.	293	Q92481	AP2B_HUMAN	F	293;302	ENSP00000377265:L293F;ENSP00000263046:L302F	ENSP00000263046:L302F	L	+	3	2	TFAP2B	50913704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.496000	0.66918	2.714000	0.92807	0.561000	0.74099	TTG	TFAP2B	-	pfam_TF_AP2_C,prints_TF_AP2_C	ENSG00000008196		0.463	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	-	0.00	40	0	G	NM_003221		50805745	+1	tier1	-	no_errors	ENST00000263046	ensembl	human	known	74_37	missense	8.51	42	4	SNP	1.000	T
TMEM249	340393	genome.wustl.edu	37	8	145578374	145578374	+	Silent	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr8:145578374G>A	ENST00000398633.3	-	1	200	c.54C>T	c.(52-54)ttC>ttT	p.F18F	TMEM249_ENST00000531225.1_3'UTR|FBXL6_ENST00000526524.1_5'Flank	NM_001252402.1	NP_001239331.1	Q2WGJ8	TM249_HUMAN	transmembrane protein 249	18						integral component of membrane (GO:0016021)											ACCAGAGCTGGAAGCGCCAGC	0.657																																																	0																																										SO:0001819	synonymous_variant	0				CCDS59117.1	8q24.3	2012-07-02			ENSG00000214597	ENSG00000261587			44155	protein-coding gene	gene with protein product							Standard	NM_001252402		Approved	C8orfK29	uc011llb.2	Q2WGJ8	OTTHUMG00000165167	ENST00000398633.3:c.54C>T	8.37:g.145578374G>A				Silent	SNP	NULL	p.F18	ENST00000398633.3	37	c.54	CCDS59117.1	8																																																																																			TMEM249	-	NULL	ENSG00000214597		0.657	TMEM249-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM249	HGNC	protein_coding	OTTHUMT00000382802.1	-	0.00	36	0	G	NM_001252402		145578374	-1	tier1	-	no_errors	ENST00000398633	ensembl	human	known	74_37	silent	36.84	24	14	SNP	0.716	A
TNKS1BP1	85456	genome.wustl.edu	37	11	57077682	57077682	+	Missense_Mutation	SNP	G	G	A	rs143273092		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr11:57077682G>A	ENST00000532437.1	-	5	2814	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R835W			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	835	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCCTGGCTCCGCTGAGTGCCA	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18820	0.0		0.0	False		,,,				2504	0.0																0								G	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	89.0	96.0	94.0		2503	3.6	0.1	11	dbSNP_134	94	1,8591	1.2+/-3.3	0,1,4295	yes	missense	TNKS1BP1	NM_033396.2	101	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	835/1730	57077682	2,12992	2201	4296	6497	SO:0001583	missense	0			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2503C>T	11.37:g.57077682G>A	ENSP00000437271:p.Arg835Trp		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.R835W	ENST00000532437.1	37	c.2503	CCDS7951.1	11	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.81	2.048138	0.36181	2.27E-4	1.16E-4	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.32023	1.47;1.47	3.56	3.56	0.40772	.	1.110580	0.06939	N	0.812425	T	0.23532	0.0569	N	0.08118	0	0.09310	N	1	D	0.56521	0.976	P	0.46975	0.533	T	0.26503	-1.0101	10	0.62326	D	0.03	-11.0605	11.0069	0.47639	0.0:0.0:1.0:0.0	.	835	Q9C0C2	TB182_HUMAN	W	835	ENSP00000350990:R835W;ENSP00000437271:R835W	ENSP00000350990:R835W	R	-	1	2	TNKS1BP1	56834258	0.043000	0.20138	0.142000	0.22268	0.312000	0.27988	2.596000	0.46205	1.732000	0.51606	0.462000	0.41574	CGG	TNKS1BP1	-	NULL	ENSG00000149115		0.607	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1		0.00	22	0	G	NM_033396		57077682	-1			no_errors	ENST00000358252	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.189	A
TNKS2	80351	genome.wustl.edu	37	10	93604699	93604699	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr10:93604699G>T	ENST00000371627.4	+	17	2462	c.2083G>T	c.(2083-2085)Gca>Tca	p.A695S		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	695					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTTAGAAGTTGCAGAGTATTT	0.333																																																	0													72.0	72.0	72.0					10																	93604699		2203	4300	6503	SO:0001583	missense	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2083G>T	10.37:g.93604699G>T	ENSP00000360689:p.Ala695Ser		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.A695S	ENST00000371627.4	37	c.2083	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038312	0.93630	.	.	ENSG00000107854	ENST00000371627	T	0.66099	-0.19	5.06	5.06	0.68205	Ankyrin repeat-containing domain (4);	0.000000	0.56097	D	0.000033	T	0.75831	0.3903	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	D	0.64687	0.928	T	0.77691	-0.2493	10	0.62326	D	0.03	.	18.7936	0.91985	0.0:0.0:1.0:0.0	.	695	Q9H2K2	TNKS2_HUMAN	S	695	ENSP00000360689:A695S	ENSP00000360689:A695S	A	+	1	0	TNKS2	93594679	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.499000	0.84300	0.585000	0.79938	GCA	TNKS2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107854		0.333	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1		0.00	47	0	G	NM_025235		93604699	+1			no_errors	ENST00000371627	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
TOX3	27324	genome.wustl.edu	37	16	52484196	52484196	+	Missense_Mutation	SNP	G	G	T	rs73583125	byFrequency	TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:52484196G>T	ENST00000219746.9	-	4	955	c.671C>A	c.(670-672)gCc>gAc	p.A224D	TOX3_ENST00000407228.3_Missense_Mutation_p.A219D	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	224					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TACTCTGTTGGCTTCATCAGC	0.473																																																	0													88.0	87.0	87.0					16																	52484196		1999	4195	6194	SO:0001583	missense	0			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.671C>A	16.37:g.52484196G>T	ENSP00000219746:p.Ala224Asp		B4DRD0|B5MCW4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A224D	ENST00000219746.9	37	c.671	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745860	0.49151	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.10573	2.87;2.86	5.75	5.75	0.90469	.	0.594944	0.17754	N	0.163121	T	0.09247	0.0228	N	0.22421	0.69	0.37755	D	0.926108	B;B	0.24258	0.03;0.1	B;B	0.18561	0.022;0.022	T	0.33599	-0.9862	10	0.17832	T	0.49	.	18.1038	0.89513	0.0:0.0:1.0:0.0	.	219;224	B4DRD0;O15405	.;TOX3_HUMAN	D	224;219	ENSP00000219746:A224D;ENSP00000385705:A219D	ENSP00000219746:A224D	A	-	2	0	TOX3	51041697	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	5.828000	0.69307	2.704000	0.92352	0.591000	0.81541	GCC	TOX3	-	NULL	ENSG00000103460		0.473	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1	-	0.00	17	0	G	XM_049037		52484196	-1	tier1	-	no_errors	ENST00000219746	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.996	T
TP53	7157	genome.wustl.edu	37	17	7578553	7578553	+	Splice_Site	SNP	T	T	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr17:7578553T>G	ENST00000269305.4	-	5	566	c.377A>C	c.(376-378)tAc>tCc	p.Y126S	TP53_ENST00000445888.2_Splice_Site_p.Y126S|TP53_ENST00000455263.2_Splice_Site_p.Y126S|TP53_ENST00000359597.4_Splice_Site_p.Y126S|TP53_ENST00000413465.2_Splice_Site_p.Y126S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.Y126S	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	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126_N131delYSPALN(3)|p.Y126fs*44(2)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAGGGGAGTACTGTAGGAA	0.557		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"""	30	Deletion - In frame(9)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - Frameshift(6)|Unknown(1)	upper_aerodigestive_tract(6)|large_intestine(4)|central_nervous_system(4)|bone(4)|lung(3)|ovary(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|liver(1)											43.0	43.0	43.0					17																	7578553		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1A>C	17.37:g.7578553T>G			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	Missense_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.Y126S	ENST00000269305.4	37	c.377	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568680	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.971;0.999;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-28.2517	13.8301	0.63375	0.0:0.0:0.0:1.0	.	87;126;126;33;126;126;126	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	126;126;126;126;126;126;115;33;33;126;126	ENSP00000410739:Y126S;ENSP00000352610:Y126S;ENSP00000269305:Y126S;ENSP00000398846:Y126S;ENSP00000391127:Y126S;ENSP00000391478:Y126S;ENSP00000423862:Y33S;ENSP00000424104:Y126S;ENSP00000426252:Y126S	ENSP00000269305:Y126S	Y	-	2	0	TP53	7519278	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	7.958000	0.87877	2.206000	0.71126	0.533000	0.62120	TAC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	31	0	T	NM_000546	Missense_Mutation	7578553	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	53.85	6	7	SNP	1.000	G
TSHR	7253	genome.wustl.edu	37	14	81609998	81609998	+	Silent	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:81609998G>A	ENST00000541158.2	+	11	1918	c.1596G>A	c.(1594-1596)aaG>aaA	p.K532K	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.K532K			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	532					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGGACCGGAAGATCCGCCTCA	0.562			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													489.0	329.0	383.0					14																	81609998		2203	4300	6503	SO:0001819	synonymous_variant	0			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1596G>A	14.37:g.81609998G>A			A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.K532	ENST00000541158.2	37	c.1596	CCDS9872.1	14																																																																																			TSHR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000165409		0.562	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	-	0.00	30	0	G	NM_000369		81609998	+1	tier1	-	no_errors	ENST00000298171	ensembl	human	known	74_37	silent	30.77	27	12	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179399177	179399177	+	Silent	SNP	C	C	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:179399177C>G	ENST00000591111.1	-	308	97466	c.97242G>C	c.(97240-97242)gtG>gtC	p.V32414V	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V25182V|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.V24990V|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Silent_p.V25115V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000589042.1_Silent_p.V34055V|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Silent_p.V31487V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCTCTTTCACTAACAACC	0.398																																																	0													131.0	132.0	132.0					2																	179399177		1928	4126	6054	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97242G>C	2.37:g.179399177C>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V31487	ENST00000591111.1	37	c.94461		2																																																																																			TTN	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	19	0	C	NM_133378		179399177	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	26.92	19	7	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179393123	179393123	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:179393123C>T	ENST00000591111.1	-	311	102556	c.102332G>A	c.(102331-102333)cGc>cAc	p.R34111H	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26879H|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R26687H|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26812H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R35752H|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R33184H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34111	Ig-like 151.|Ser-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R33184H(1)|p.R26687H(1)|p.R26812H(1)|p.R26879H(1)|p.R33182H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCTGGAGCGGCTTATGCT	0.378																																																	5	Substitution - Missense(5)	lung(5)											97.0	87.0	90.0					2																	179393123		1849	4104	5953	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102332G>A	2.37:g.179393123C>T	ENSP00000465570:p.Arg34111His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R33184H	ENST00000591111.1	37	c.99551		2	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993925	0.35131	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.25	5.25	0.73442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74298	0.3698	L	0.28400	0.85	0.35257	D	0.779215	D;D;D;D;D	0.89917	0.998;0.998;0.998;0.999;1.0	D;D;D;D;D	0.68765	0.928;0.928;0.928;0.96;0.925	T	0.81134	-0.1071	9	0.87932	D	0	.	19.2035	0.93720	0.0:1.0:0.0:0.0	.	26687;26812;26879;34111;33184	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	H	33184;26687;26879;26812;26684	ENSP00000343764:R33184H;ENSP00000434586:R26687H;ENSP00000340554:R26879H;ENSP00000352154:R26812H	ENSP00000340554:R26879H	R	-	2	0	TTN	179101369	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	3.861000	0.56002	2.603000	0.88011	0.555000	0.69702	CGC	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	15	0	C	NM_133378		179393123	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179459077	179459077	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:179459077C>T	ENST00000591111.1	-	246	53445	c.53221G>A	c.(53221-53223)Gag>Aag	p.E17741K	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10509K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10317K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10442K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E19382K|TTN_ENST00000342992.6_Missense_Mutation_p.E16814K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17741	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCCAGCTCATCCTTGCAA	0.353																																																	0													92.0	90.0	91.0					2																	179459077		1914	4139	6053	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53221G>A	2.37:g.179459077C>T	ENSP00000465570:p.Glu17741Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E16814K	ENST00000591111.1	37	c.50440		2	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876369	0.72180	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44307	0.1287	L	0.31926	0.97	0.80722	D	1	B;B;B;B	0.27791	0.189;0.189;0.189;0.189	B;B;B;B	0.27608	0.044;0.044;0.081;0.081	T	0.33137	-0.9880	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	10317;10442;10509;17741	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	16814;10317;10509;10442;10315	ENSP00000343764:E16814K;ENSP00000434586:E10317K;ENSP00000340554:E10509K;ENSP00000352154:E10442K	ENSP00000340554:E10509K	E	-	1	0	TTN	179167323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.967000	0.70403	2.941000	0.99782	0.655000	0.94253	GAG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.353	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	44	0	C	NM_133378		179459077	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	16.90	59	12	SNP	1.000	T
TXNRD1	7296	genome.wustl.edu	37	12	104682792	104682792	+	Missense_Mutation	SNP	A	A	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:104682792A>T	ENST00000525566.1	+	4	412	c.388A>T	c.(388-390)Ata>Tta	p.I130L	TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000397736.2_5'Flank|TXNRD1_ENST00000378070.4_Missense_Mutation_p.I79L|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000388854.3_Missense_Mutation_p.I32L|TXNRD1_ENST00000542918.1_Missense_Mutation_p.I30L|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000429002.2_Missense_Mutation_p.I130L|TXNRD1_ENST00000526691.1_Missense_Mutation_p.I32L	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	130	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	ACAGAGAAAGATAGGCGGCCA	0.542																																					Ovarian(139;555 1836 9186 9946 10884)												0													113.0	118.0	116.0					12																	104682792		1899	4114	6013	SO:0001583	missense	0				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.388A>T	12.37:g.104682792A>T	ENSP00000434516:p.Ile130Leu		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.I130L	ENST00000525566.1	37	c.388	CCDS53820.1	12	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327689	0.41197	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000526691;ENST00000388854;ENST00000542918;ENST00000378070	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	3.75	-5.03	0.02973	Glutaredoxin (1);Thioredoxin-like fold (2);	0.689509	0.14418	N	0.320826	T	0.27866	0.0686	L	0.49513	1.565	0.27706	N	0.94562	B;B;B	0.12013	0.003;0.002;0.005	B;B;B	0.20577	0.005;0.011;0.03	T	0.24048	-1.0171	10	0.23302	T	0.38	-0.0531	13.0271	0.58821	0.3264:0.6736:0.0:0.0	.	30;32;130	B7Z2S5;Q16881-4;Q16881	.;.;TRXR1_HUMAN	L	130;130;32;32;30;79	ENSP00000434516:I130L;ENSP00000412045:I130L;ENSP00000435929:I32L;ENSP00000373506:I32L;ENSP00000440978:I30L;ENSP00000367310:I79L	ENSP00000367310:I79L	I	+	1	0	TXNRD1	103206922	0.440000	0.25618	0.037000	0.18230	0.968000	0.65278	-0.001000	0.12947	-1.044000	0.03254	0.369000	0.22263	ATA	TXNRD1	-	superfamily_Thioredoxin-like_fold	ENSG00000198431		0.542	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389960.1	-	0.00	36	0	A	NM_003330		104682792	+1	tier1	-	no_errors	ENST00000429002	ensembl	human	known	74_37	missense	65.38	9	17	SNP	0.062	T
TYMS	7298	genome.wustl.edu	37	18	671442	671442	+	Silent	SNP	G	G	A	rs549187782		TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr18:671442G>A	ENST00000323274.10	+	6	934	c.795G>A	c.(793-795)ctG>ctA	p.L265L	TYMS_ENST00000323250.5_Silent_p.L182L|ENOSF1_ENST00000583973.1_5'Flank|TYMS_ENST00000323224.7_Silent_p.L231L|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	265					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	TCGAGCCACTGAAAATTCAGG	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19231	0.0		0.0	False		,,,				2504	0.0																0													103.0	103.0	103.0					18																	671442		2203	4300	6503	SO:0001819	synonymous_variant	0			X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.795G>A	18.37:g.671442G>A			Q8WYK3|Q8WYK4	Silent	SNP	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase	p.L265	ENST00000323274.10	37	c.795	CCDS11821.1	18																																																																																			TYMS	-	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,tigrfam_Thymidylate_synthase	ENSG00000176890		0.413	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYMS	HGNC	protein_coding	OTTHUMT00000254316.1	-	0.00	71	0	G	NM_001071		671442	+1	tier1	-	no_errors	ENST00000323274	ensembl	human	known	74_37	silent	8.43	76	7	SNP	0.938	A
UBE2G2	7327	genome.wustl.edu	37	21	46207977	46207977	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr21:46207977G>T	ENST00000345496.2	-	2	347	c.77C>A	c.(76-78)gCa>gAa	p.A26E	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_5'UTR	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	26					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K48-linked ubiquitination (GO:0070936)|protein N-linked glycosylation via asparagine (GO:0018279)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		TACCTTACCTGCTACAATTCC	0.303																																																	0													50.0	52.0	52.0					21																	46207977		2202	4300	6502	SO:0001583	missense	0			BC008351	CCDS13714.1, CCDS33586.1	21q22.3	2011-05-19	2011-05-19		ENSG00000184787	ENSG00000184787		"""Ubiquitin-conjugating enzymes E2"""	12483	protein-coding gene	gene with protein product		603124	"""ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7)"", ""ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast)"""			9693041, 9925943	Standard	NM_003343		Approved	UBC7	uc002zfy.3	P60604	OTTHUMG00000089179	ENST00000345496.2:c.77C>A	21.37:g.46207977G>T	ENSP00000338348:p.Ala26Glu		A6NMQ7|A8K3L4|D3DSL7|P56554	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.A26E	ENST00000345496.2	37	c.77	CCDS13714.1	21	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510487	0.85389	.	.	ENSG00000184787	ENST00000345496	T	0.38401	1.14	5.52	5.52	0.82312	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87550	0.2464	10	0.87932	D	0	-14.1132	16.3909	0.83537	0.0:0.0:1.0:0.0	.	26	P60604	UB2G2_HUMAN	E	26	ENSP00000338348:A26E	ENSP00000338348:A26E	A	-	2	0	UBE2G2	45032405	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.906000	0.69900	2.595000	0.87683	0.655000	0.94253	GCA	UBE2G2	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000184787		0.303	UBE2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2G2	HGNC	protein_coding	OTTHUMT00000202647.2	-	0.00	40	0	G	NM_182688		46207977	-1	tier1	-	no_errors	ENST00000345496	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
UNC13C	440279	genome.wustl.edu	37	15	54308000	54308000	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr15:54308000G>T	ENST00000260323.11	+	1	2900	c.2900G>T	c.(2899-2901)aGa>aTa	p.R967I	UNC13C_ENST00000545554.1_Missense_Mutation_p.R967I|UNC13C_ENST00000537900.1_Missense_Mutation_p.R967I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	967					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)		AAGCCAAAGAGAATTCGTCCT	0.398																																																	0													62.0	60.0	60.0					15																	54308000		1852	4094	5946	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.2900G>T	15.37:g.54308000G>T	ENSP00000260323:p.Arg967Ile		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.R967I	ENST00000260323.11	37	c.2900	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811701	0.32053	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.81996	-1.56;-1.51;-1.56	5.58	3.71	0.42584	.	.	.	.	.	T	0.74458	0.3719	L	0.29908	0.895	0.51233	D	0.999919	B	0.31009	0.303	B	0.31495	0.131	T	0.72194	-0.4364	9	0.72032	D	0.01	.	11.8491	0.52401	0.1431:0.0:0.8569:0.0	.	967	Q8NB66	UN13C_HUMAN	I	967	ENSP00000260323:R967I;ENSP00000438156:R967I;ENSP00000442569:R967I	ENSP00000260323:R967I	R	+	2	0	UNC13C	52095292	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	2.749000	0.47492	0.727000	0.32360	0.650000	0.86243	AGA	UNC13C	-	NULL	ENSG00000137766		0.398	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3		0.00	32	0	G	NM_173166		54308000	+1			no_errors	ENST00000260323	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.998	T
VARS2	57176	genome.wustl.edu	37	6	30888139	30888139	+	Silent	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr6:30888139G>A	ENST00000321897.5	+	13	1955	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	VARS2_ENST00000541562.1_Silent_p.K471K|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Silent_p.K301K|VARS2_ENST00000416670.2_Silent_p.K441K			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	441					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCGGGAAAAGATAATGTCTG	0.502																																																	0													43.0	47.0	46.0					6																	30888139		2203	4300	6503	SO:0001819	synonymous_variant	0			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1323G>A	6.37:g.30888139G>A			A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.K471	ENST00000321897.5	37	c.1413	CCDS34387.1	6																																																																																			VARS2	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Valyl-tRNA_ligase	ENSG00000137411		0.502	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	HGNC	protein_coding	OTTHUMT00000076566.2	-	0.00	17	0	G	NM_020442		30888139	+1	tier1	-	no_errors	ENST00000541562	ensembl	human	known	74_37	silent	31.58	13	6	SNP	0.812	A
VCAN	1462	genome.wustl.edu	37	5	82837230	82837230	+	Missense_Mutation	SNP	A	A	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:82837230A>G	ENST00000265077.3	+	8	8973	c.8408A>G	c.(8407-8409)aAt>aGt	p.N2803S	VCAN_ENST00000343200.5_Missense_Mutation_p.N1816S|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2803	GAG-beta.				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)	GAAGGATCCAATCCCCCATAT	0.443																																																	0													140.0	133.0	136.0					5																	82837230		2203	4300	6503	SO:0001583	missense	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.8408A>G	5.37:g.82837230A>G	ENSP00000265077:p.Asn2803Ser		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.N2803S	ENST00000265077.3	37	c.8408	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	A	11.91	1.780330	0.31502	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.29142	1.58;1.58	6.17	-11.8	0.00035	.	1.226840	0.05532	N	0.564082	T	0.11324	0.0276	N	0.11560	0.145	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.22034	-1.0228	10	0.07325	T	0.83	.	11.2048	0.48762	0.248:0.1808:0.5712:0.0	.	1816;2803	P13611-2;P13611	.;CSPG2_HUMAN	S	2803;1816	ENSP00000265077:N2803S;ENSP00000340062:N1816S	ENSP00000265077:N2803S	N	+	2	0	VCAN	82872986	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	-2.685000	0.00834	-2.191000	0.00756	-0.242000	0.12053	AAT	VCAN	-	NULL	ENSG00000038427		0.443	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0.00	27	0	A	NM_004385		82837230	+1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	missense	43.59	22	17	SNP	0.000	G
WBP4	11193	genome.wustl.edu	37	13	41654920	41654920	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr13:41654920G>A	ENST00000379487.3	+	9	1295	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	WBP4_ENST00000542082.1_Missense_Mutation_p.E278K	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	299					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		AGAATGGCAAGAAATTAAACA	0.333																																																	0													119.0	120.0	119.0					13																	41654920		2203	4299	6502	SO:0001583	missense	0			AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.895G>A	13.37:g.41654920G>A	ENSP00000368801:p.Glu299Lys		B7Z4M2|Q32P29	Missense_Mutation	SNP	pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin	p.E299K	ENST00000379487.3	37	c.895	CCDS9375.1	13	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881370	0.51801	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	.	.	.	5.64	4.79	0.61399	.	0.618297	0.17332	N	0.178083	T	0.50222	0.1603	L	0.60455	1.87	0.34120	D	0.663965	P;P	0.48764	0.734;0.915	B;P	0.45071	0.257;0.468	T	0.56703	-0.7935	9	0.17832	T	0.49	-10.4901	11.9568	0.52986	0.0808:0.0:0.9192:0.0	.	278;299	B7Z4M2;O75554	.;WBP4_HUMAN	K	299;278	.	ENSP00000368801:E299K	E	+	1	0	WBP4	40552920	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.994000	0.49433	2.660000	0.90430	0.561000	0.74099	GAA	WBP4	-	NULL	ENSG00000120688		0.333	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP4	HGNC	protein_coding	OTTHUMT00000044655.2	-	0.00	42	0	G	NM_007187		41654920	+1	tier1	-	no_errors	ENST00000379487	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A
WDR33	55339	genome.wustl.edu	37	2	128520663	128520663	+	Missense_Mutation	SNP	G	G	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:128520663G>A	ENST00000322313.4	-	7	855	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	WDR33_ENST00000393006.1_Missense_Mutation_p.R233C|WDR33_ENST00000409658.3_3'UTR	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	233					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCATGGCAACGAAGAAAGTCC	0.403																																																	0													124.0	116.0	119.0					2																	128520663		2203	4300	6503	SO:0001583	missense	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.697C>T	2.37:g.128520663G>A	ENSP00000325377:p.Arg233Cys		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R233C	ENST00000322313.4	37	c.697	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216664	0.58452	.	.	ENSG00000136709	ENST00000322313;ENST00000436787;ENST00000393006	T;D;T	0.81739	4.97;-1.53;4.97	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88119	0.6351	L	0.52011	1.625	0.80722	D	1	B;D	0.89917	0.267;1.0	B;D	0.77557	0.033;0.99	D	0.88058	0.2792	10	0.87932	D	0	-12.8239	20.3552	0.98837	0.0:0.0:1.0:0.0	.	233;233	Q6NUQ0;Q9C0J8	.;WDR33_HUMAN	C	233;155;233	ENSP00000325377:R233C;ENSP00000397547:R155C;ENSP00000376730:R233C	ENSP00000325377:R233C	R	-	1	0	WDR33	128237133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.865000	0.99609	2.812000	0.96745	0.558000	0.71614	CGT	WDR33	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000136709		0.403	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2		0.00	21	0	G	NM_018383		128520663	-1			no_errors	ENST00000322313	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	A
XPOT	11260	genome.wustl.edu	37	12	64823865	64823865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr12:64823865C>T	ENST00000332707.5	+	17	2303	c.1774C>T	c.(1774-1776)Caa>Taa	p.Q592*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	592	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CAGCGATGATCAACTTTTTAT	0.363																																																	0													75.0	74.0	74.0					12																	64823865		2203	4300	6503	SO:0001587	stop_gained	0			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1774C>T	12.37:g.64823865C>T	ENSP00000327821:p.Gln592*		A6NLH1|O43784|Q8WUG2|Q9BVS7	Nonsense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.Q592*	ENST00000332707.5	37	c.1774	CCDS31852.1	12	.	.	.	.	.	.	.	.	.	.	C	41	8.987976	0.99027	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	.	.	.	5.28	5.28	0.74379	.	0.110120	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2838	0.94063	0.0:1.0:0.0:0.0	.	.	.	.	X	592;114	.	.	Q	+	1	0	XPOT	63110132	1.000000	0.71417	0.964000	0.40570	0.533000	0.34776	7.402000	0.79972	2.646000	0.89796	0.650000	0.86243	CAA	XPOT	-	superfamily_ARM-type_fold	ENSG00000184575		0.363	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1	-	0.00	45	0	C	NM_007235		64823865	+1	tier1	-	no_errors	ENST00000332707	ensembl	human	known	74_37	nonsense	10.00	125	14	SNP	1.000	T
YEATS2	55689	genome.wustl.edu	37	3	183495460	183495460	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr3:183495460C>T	ENST00000305135.5	+	19	2903	c.2708C>T	c.(2707-2709)tCt>tTt	p.S903F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	903					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAAGTCATCTCTGGACAGAAA	0.428																																																	0													87.0	84.0	85.0					3																	183495460		2051	4222	6273	SO:0001583	missense	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2708C>T	3.37:g.183495460C>T	ENSP00000306983:p.Ser903Phe		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S903F	ENST00000305135.5	37	c.2708	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920256	0.92249	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	D	0.86497	-2.13	5.68	5.68	0.88126	.	0.140038	0.49305	D	0.000154	D	0.84597	0.5507	N	0.19112	0.55	0.47374	D	0.999408	P	0.49961	0.93	P	0.48030	0.564	D	0.86931	0.2073	10	0.87932	D	0	-21.3199	19.7885	0.96447	0.0:1.0:0.0:0.0	.	903	Q9ULM3	YETS2_HUMAN	F	903	ENSP00000306983:S903F	ENSP00000306983:S903F	S	+	2	0	YEATS2	184978154	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.679000	0.74513	2.660000	0.90430	0.655000	0.94253	TCT	YEATS2	-	NULL	ENSG00000163872		0.428	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2		0.00	27	0	C	NM_018023		183495460	+1			no_errors	ENST00000305135	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T
YWHAQ	10971	genome.wustl.edu	37	2	9725328	9725328	+	3'UTR	SNP	T	T	C			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:9725328T>C	ENST00000381844.4	-	0	988				YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_3'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta						apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		AATGGGTTTCTTTGCTATAGG	0.388																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.*87A>G	2.37:g.9725328T>C			D6W4Z5|Q567U5|Q5TZU8|Q9UP48	RNA	SNP	-	NULL	ENST00000381844.4	37	NULL	CCDS1666.1	2																																																																																			YWHAQ	-	-	ENSG00000134308		0.388	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YWHAQ	HGNC	protein_coding	OTTHUMT00000039014.4	-	0.00	28	0	T	NM_006826		9725328	-1	tier1	-	no_errors	ENST00000474715	ensembl	human	known	74_37	rna	34.48	38	20	SNP	0.999	C
ZFYVE1	53349	genome.wustl.edu	37	14	73436427	73436427	+	3'UTR	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr14:73436427C>T	ENST00000556143.1	-	0	4217				ZFYVE1_ENST00000318876.5_3'UTR|ZFYVE1_ENST00000553891.1_Silent_p.P787P	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1						negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTCAGCACAACGGGCCCTTTC	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.*1163G>A	14.37:g.73436427C>T			J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.P787	ENST00000556143.1	37	c.2361	CCDS9811.1	14																																																																																			ZFYVE1	-	NULL	ENSG00000165861		0.413	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	-	0.00	54	0	C	NM_021260		73436427	-1	tier1	-	no_errors	ENST00000553891	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.964	T
ZFYVE16	9765	genome.wustl.edu	37	5	79733702	79733702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:79733702C>T	ENST00000338008.5	+	3	1378	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.Q400*|ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.Q400*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	400					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTTTTTACCTCAGCATGAACA	0.398																																					Melanoma(150;1452 1854 16018 17851 37292)												0													61.0	59.0	60.0					5																	79733702		2203	4299	6502	SO:0001587	stop_gained	0			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.1198C>T	5.37:g.79733702C>T	ENSP00000337159:p.Gln400*		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Nonsense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.Q400*	ENST00000338008.5	37	c.1198	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100798	0.56183	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	5.37	4.49	0.54785	.	0.667593	0.13892	N	0.355526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	4.5712	9.3184	0.37948	0.0:0.7773:0.1439:0.0788	.	.	.	.	X	400	.	ENSP00000337159:Q400X	Q	+	1	0	ZFYVE16	79769458	0.159000	0.22864	0.021000	0.16686	0.260000	0.26232	2.456000	0.44997	1.381000	0.46364	0.655000	0.94253	CAG	ZFYVE16	-	pirsf_Znf_FYVE_SARA/endofin	ENSG00000039319		0.398	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	-	0.00	21	0	C	NM_014733		79733702	+1	tier1	-	no_errors	ENST00000338008	ensembl	human	known	74_37	nonsense	24.44	34	11	SNP	0.016	T
ZFYVE16	9765	genome.wustl.edu	37	5	79733788	79733788	+	Missense_Mutation	SNP	C	C	G			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr5:79733788C>G	ENST00000338008.5	+	3	1464	c.1284C>G	c.(1282-1284)ttC>ttG	p.F428L	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.F428L|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.F428L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	428					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GGGAACCATTCAAAGAGAATG	0.358																																					Melanoma(150;1452 1854 16018 17851 37292)												0													48.0	47.0	47.0					5																	79733788		2203	4300	6503	SO:0001583	missense	0			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.1284C>G	5.37:g.79733788C>G	ENSP00000337159:p.Phe428Leu		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.F428L	ENST00000338008.5	37	c.1284	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	C	4.659	0.122575	0.08931	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.35605	1.3;1.3;1.3	5.23	-2.28	0.06826	.	0.690985	0.12892	N	0.430508	T	0.10981	0.0268	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30679	-0.9970	10	0.02654	T	1	0.0181	3.2558	0.06831	0.0953:0.2689:0.1371:0.4987	.	428;428	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	L	428	ENSP00000337159:F428L;ENSP00000423663:F428L;ENSP00000426848:F428L	ENSP00000337159:F428L	F	+	3	2	ZFYVE16	79769544	0.000000	0.05858	0.001000	0.08648	0.803000	0.45373	-0.523000	0.06230	-0.351000	0.08249	0.561000	0.74099	TTC	ZFYVE16	-	pirsf_Znf_FYVE_SARA/endofin	ENSG00000039319		0.358	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	-	0.00	18	0	C	NM_014733		79733788	+1	tier1	-	no_errors	ENST00000338008	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.000	G
ZNF462	58499	genome.wustl.edu	37	9	109686919	109686919	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr9:109686919C>A	ENST00000277225.5	+	3	1015	c.726C>A	c.(724-726)aaC>aaA	p.N242K	ZNF462_ENST00000457913.1_Missense_Mutation_p.N242K|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	242					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCGAGGCAACTTTTGTTGTG	0.537																																																	0													75.0	77.0	76.0					9																	109686919		2203	4300	6503	SO:0001583	missense	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.726C>A	9.37:g.109686919C>A	ENSP00000277225:p.Asn242Lys		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N242K	ENST00000277225.5	37	c.726	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584419	0.46110	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.05855	3.38;3.83	5.91	5.02	0.67125	.	0.135042	0.64402	D	0.000002	T	0.08626	0.0214	L	0.27053	0.805	0.80722	D	1	D;P	0.55800	0.973;0.954	P;B	0.50405	0.64;0.437	T	0.38908	-0.9639	9	.	.	.	.	13.2547	0.60073	0.0:0.9271:0.0:0.0729	.	242;242	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	K	242	ENSP00000277225:N242K;ENSP00000414570:N242K	.	N	+	3	2	ZNF462	108726740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.728000	0.26013	1.518000	0.48934	0.655000	0.94253	AAC	ZNF462	-	NULL	ENSG00000148143		0.537	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	-	0.00	17	0	C	NM_021224		109686919	+1	tier1	-	no_errors	ENST00000457913	ensembl	human	known	74_37	missense	51.06	23	24	SNP	1.000	A
ZNF469	84627	genome.wustl.edu	37	16	88505440	88505440	+	Silent	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr16:88505440C>A	ENST00000437464.1	+	2	11478	c.11478C>A	c.(11476-11478)ccC>ccA	p.P3826P	ZNF469_ENST00000565624.1_Silent_p.P3854P	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	3826					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(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						AGGCAACTCCCAGCCGCGTGC	0.677																																																	0													44.0	56.0	52.0					16																	88505440		692	1591	2283	SO:0001819	synonymous_variant	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.11478C>A	16.37:g.88505440C>A				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P3826	ENST00000437464.1	37	c.11478	CCDS45544.1	16																																																																																			ZNF469	-	NULL	ENSG00000225614		0.677	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		-	0.00	24	0	C	NG_012236		88505440	+1	tier1	-	no_errors	ENST00000437464	ensembl	human	known	74_37	silent	18.75	39	9	SNP	0.001	A
ZNF534	147658	genome.wustl.edu	37	19	52941771	52941771	+	Missense_Mutation	SNP	C	C	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr19:52941771C>T	ENST00000332323.6	+	4	1158	c.1097C>T	c.(1096-1098)cCa>cTa	p.P366L	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.P353L|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GGAGAGAGACCATACAAATGT	0.418																																																	0													103.0	99.0	100.0					19																	52941771		692	1591	2283	SO:0001583	missense	0			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1097C>T	19.37:g.52941771C>T	ENSP00000327538:p.Pro366Leu		Q76KX9	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.P366L	ENST00000332323.6	37	c.1097	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876180	0.33162	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.27557	1.66;1.66	1.82	0.746	0.18365	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53110	0.1776	M	0.84773	2.715	0.49483	D	0.999797	P;D	0.89917	0.938;1.0	B;D	0.97110	0.38;1.0	T	0.56860	-0.7909	9	0.66056	D	0.02	.	7.534	0.27700	0.0:0.8341:0.0:0.1659	.	353;366	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	L	366;353;365	ENSP00000327538:P366L;ENSP00000391358:P353L	ENSP00000327538:P366L	P	+	2	0	ZNF534	57633583	0.000000	0.05858	0.026000	0.17262	0.003000	0.03518	0.044000	0.13992	0.983000	0.38602	0.467000	0.42956	CCA	ZNF534	-	pfscan_Znf_C2H2	ENSG00000198633		0.418	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	-	0.00	21	0	C	NM_182512		52941771	+1	tier1	-	no_errors	ENST00000332323	ensembl	human	known	74_37	missense	52.27	21	23	SNP	0.706	T
ZNF638	27332	genome.wustl.edu	37	2	71635285	71635285	+	Missense_Mutation	SNP	C	C	A			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:71635285C>A	ENST00000409544.1	+	20	3799	c.3169C>A	c.(3169-3171)Cag>Aag	p.Q1057K	ZNF638_ENST00000355812.3_Missense_Mutation_p.Q1057K|ZNF638_ENST00000264447.4_Missense_Mutation_p.Q1057K|ZNF638_ENST00000409407.1_5'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1057					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGAATCTGCTCAGTCAATGTA	0.318																																																	0													110.0	113.0	112.0					2																	71635285		2203	4300	6503	SO:0001583	missense	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3169C>A	2.37:g.71635285C>A	ENSP00000386433:p.Gln1057Lys		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.Q1057K	ENST00000409544.1	37	c.3169	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	C	4.474	0.087844	0.08583	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.54279	0.58;1.64;1.64	5.05	4.09	0.47781	.	0.463335	0.19037	N	0.124387	T	0.33673	0.0871	L	0.29908	0.895	0.80722	D	1	P;P;B;B	0.40794	0.61;0.729;0.087;0.435	B;B;B;B	0.35278	0.138;0.199;0.026;0.078	T	0.05131	-1.0904	10	0.13853	T	0.58	-0.5194	10.1292	0.42669	0.3001:0.6998:0.0:0.0	.	1057;1057;1057;1057	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	K	636;1057;1057;1057	ENSP00000348066:Q1057K;ENSP00000264447:Q1057K;ENSP00000386433:Q1057K	ENSP00000264447:Q1057K	Q	+	1	0	ZNF638	71488793	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.385000	0.44371	2.737000	0.93849	0.585000	0.79938	CAG	ZNF638	-	NULL	ENSG00000075292		0.318	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	-	0.00	45	0	C	NM_014497		71635285	+1	tier1	-	no_errors	ENST00000264447	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A
ZNF804A	91752	genome.wustl.edu	37	2	185803049	185803049	+	Missense_Mutation	SNP	G	G	T			TCGA-S8-A6BW-01A-11D-A31U-09	TCGA-S8-A6BW-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	db39105a-4a30-4485-a1d9-4b0b0f055efa	25fe2333-04a2-4bd5-9f40-108703ff4e45	g.chr2:185803049G>T	ENST00000302277.6	+	4	3520	c.2926G>T	c.(2926-2928)Gct>Tct	p.A976S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	976							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATGAACTGGCTGAGGCCCT	0.388																																																	0													99.0	95.0	96.0					2																	185803049		2203	4300	6503	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2926G>T	2.37:g.185803049G>T	ENSP00000303252:p.Ala976Ser		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.A976S	ENST00000302277.6	37	c.2926	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249293	0.39797	.	.	ENSG00000170396	ENST00000302277	T	0.10668	2.85	5.14	3.34	0.38264	.	0.118997	0.37623	N	0.002015	T	0.15349	0.0370	L	0.57536	1.79	0.29101	N	0.881454	P	0.52061	0.95	P	0.47981	0.563	T	0.04268	-1.0964	10	0.62326	D	0.03	-10.7369	8.7898	0.34843	0.173:0.0:0.827:0.0	.	976	Q7Z570	Z804A_HUMAN	S	976	ENSP00000303252:A976S	ENSP00000303252:A976S	A	+	1	0	ZNF804A	185511294	1.000000	0.71417	0.996000	0.52242	0.456000	0.32438	2.165000	0.42396	0.563000	0.29222	-0.373000	0.07131	GCT	ZNF804A	-	NULL	ENSG00000170396		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0.00	24	0	G	NM_194250		185803049	+1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.998	T
