#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
ABCC6	368	genome.wustl.edu	37	16	16271331	16271331	+	Silent	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:16271331C>T	ENST00000205557.7	-	19	2597	c.2568G>A	c.(2566-2568)caG>caA	p.Q856Q		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	856					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TATCTCCTGGCTGTCTGGCTT	0.577																																																	0													99.0	85.0	90.0					16																	16271331		2197	4300	6497	SO:0001819	synonymous_variant	0			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2568G>A	16.37:g.16271331C>T			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.Q856	ENST00000205557.7	37	c.2568	CCDS10568.1	16																																																																																			ABCC6	-	tigrfam_Multidrug-R_assoc	ENSG00000091262		0.577	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	-	0.00	58	0	C			16271331	-1	tier1	-	no_errors	ENST00000205557	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.930	T
ADAMTS3	9508	genome.wustl.edu	37	4	73169747	73169747	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr4:73169747C>G	ENST00000286657.4	-	17	2347	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	771	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GACTTGGCTTCCTCCCCTTTG	0.388																																					NSCLC(168;1941 2048 2918 13048 43078)												0													188.0	189.0	189.0					4																	73169747		2203	4300	6503	SO:0001583	missense	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2311G>C	4.37:g.73169747C>G	ENSP00000286657:p.Glu771Gln		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.E771Q	ENST00000286657.4	37	c.2311	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011871	0.54468	.	.	ENSG00000156140	ENST00000286657	T	0.51817	0.69	5.57	5.57	0.84162	ADAM-TS Spacer 1 (1);	0.061993	0.64402	D	0.000005	T	0.62122	0.2402	L	0.55990	1.75	0.58432	D	0.999999	D	0.53151	0.958	P	0.57720	0.826	T	0.59936	-0.7360	10	0.46703	T	0.11	.	19.5589	0.95364	0.0:1.0:0.0:0.0	.	771	O15072	ATS3_HUMAN	Q	771	ENSP00000286657:E771Q	ENSP00000286657:E771Q	E	-	1	0	ADAMTS3	73388611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.730000	0.84881	2.623000	0.88846	0.655000	0.94253	GAA	ADAMTS3	-	pfam_ADAM_spacer1	ENSG00000156140		0.388	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2		0.00	64	0	C			73169747	-1			no_errors	ENST00000286657	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	G
ADHFE1	137872	genome.wustl.edu	37	8	67372632	67372632	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr8:67372632G>C	ENST00000396623.3	+	13	1283	c.1252G>C	c.(1252-1254)Gat>Cat	p.D418H	ADHFE1_ENST00000415254.1_Missense_Mutation_p.D370H|ADHFE1_ENST00000496501.1_3'UTR|C8orf46_ENST00000482608.2_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	418					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGATGTTGATGATGGCCTAGC	0.557											OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													112.0	105.0	107.0					8																	67372632		2203	4300	6503	SO:0001583	missense	0			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.1252G>C	8.37:g.67372632G>C	ENSP00000379865:p.Asp418His	1099	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	pfam_ADH_Fe	p.D418H	ENST00000396623.3	37	c.1252	CCDS6190.2	8	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083101	0.76642	.	.	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.42900	0.96;0.96	5.71	2.97	0.34412	Alcohol dehydrogenase, iron-type (1);	0.092649	0.64402	D	0.000001	T	0.58163	0.2103	M	0.67953	2.075	0.80722	D	1	D	0.57899	0.981	D	0.68943	0.961	T	0.55692	-0.8101	10	0.51188	T	0.08	-12.2688	10.9338	0.47233	0.1903:0.0:0.8097:0.0	.	418	Q8IWW8	HOT_HUMAN	H	418;370	ENSP00000379865:D418H;ENSP00000407115:D370H	ENSP00000379865:D418H	D	+	1	0	ADHFE1	67535186	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	4.090000	0.57693	0.350000	0.24002	0.563000	0.77884	GAT	ADHFE1	-	pfam_ADH_Fe	ENSG00000147576		0.557	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADHFE1	HGNC	protein_coding	OTTHUMT00000316867.3	-	0.00	58	0	G	NM_144650		67372632	+1	tier1	-	no_errors	ENST00000396623	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	C
ADCY8	114	genome.wustl.edu	37	8	131922004	131922004	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr8:131922004C>G	ENST00000286355.5	-	6	3682	c.1590G>C	c.(1588-1590)tgG>tgC	p.W530C	ADCY8_ENST00000377928.3_Missense_Mutation_p.W530C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	530					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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CATCCCAAGACCAGACATCAA	0.468										HNSCC(32;0.087)																																							0													271.0	226.0	242.0					8																	131922004		2203	4300	6503	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1590G>C	8.37:g.131922004C>G	ENSP00000286355:p.Trp530Cys			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.W530C	ENST00000286355.5	37	c.1590	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.182419	0.94885	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.84070	-1.8;-1.8;-1.8	5.93	5.93	0.95920	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;0.986	D;P	0.91635	0.999;0.766	D	0.97298	0.9929	10	0.87932	D	0	.	19.3421	0.94347	0.0:1.0:0.0:0.0	.	530;530	E7EVL1;P40145	.;ADCY8_HUMAN	C	530;530;145	ENSP00000286355:W530C;ENSP00000367161:W530C;ENSP00000428010:W145C	ENSP00000286355:W530C	W	-	3	0	ADCY8	131991186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	TGG	ADCY8	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000155897		0.468	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0.00	78	0	C			131922004	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	18.39	71	16	SNP	1.000	G
ALG10	84920	genome.wustl.edu	37	12	34179678	34179678	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:34179678A>G	ENST00000266483.2	+	3	1569	c.1250A>G	c.(1249-1251)tAc>tGc	p.Y417C	AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	417					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GAATTTCGTTACTTCATTTTA	0.343																																																	0													203.0	205.0	204.0					12																	34179678		2203	4300	6503	SO:0001583	missense	0			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.1250A>G	12.37:g.34179678A>G	ENSP00000266483:p.Tyr417Cys		Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	pfam_Alg10,pirsf_Alg10	p.Y417C	ENST00000266483.2	37	c.1250	CCDS41769.1	12	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639856	0.47153	.	.	ENSG00000139133	ENST00000266483	T	0.70869	-0.52	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	D	0.86569	0.5964	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88407	0.3019	10	0.87932	D	0	.	10.0836	0.42404	1.0:0.0:0.0:0.0	.	417	Q5BKT4	AG10A_HUMAN	C	417	ENSP00000266483:Y417C	ENSP00000266483:Y417C	Y	+	2	0	ALG10	34070945	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	8.928000	0.92853	1.322000	0.45245	0.155000	0.16302	TAC	ALG10	-	pfam_Alg10,pirsf_Alg10	ENSG00000139133		0.343	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10	HGNC	protein_coding	OTTHUMT00000403309.1	-	0.00	104	0	A	NM_032834		34179678	+1	tier1	-	no_errors	ENST00000266483	ensembl	human	known	74_37	missense	13.76	94	15	SNP	1.000	G
ANGEL2	90806	genome.wustl.edu	37	1	213180441	213180442	+	Intron	INS	-	-	A	rs116147385|rs71147054|rs397982836|rs202124670	byFrequency	TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:213180441_213180442insA	ENST00000366962.3	-	4	867				ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000360506.2_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)											central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		tctcaaaaaagaaaaaaaaaaa	0.431																																																	0																																										SO:0001627	intron_variant	0			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.712+28->T	1.37:g.213180452_213180452dupA			B7Z2U4|D3DTA3|Q86X13|Q8NHH3	RNA	INS	-	NULL	ENST00000366962.3	37	NULL	CCDS1512.1	1																																																																																			ANGEL2	-	-	ENSG00000174606		0.431	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	HGNC	protein_coding	OTTHUMT00000089693.1		0.00	13	0	-	NM_144567		213180442	-1	tier1		no_errors	ENST00000460337	ensembl	human	known	74_37	rna	23.81	16	5	INS	0.003:0.007	A
ANKRD27	84079	genome.wustl.edu	37	19	33130212	33130212	+	Intron	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:33130212G>T	ENST00000306065.4	-	12	1275				ANKRD27_ENST00000587352.1_Missense_Mutation_p.P389H	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)						early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ACCCTATCAAGGGAACCATGA	0.517																																																	0													63.0	59.0	61.0					19																	33130212		2203	4300	6503	SO:0001627	intron_variant	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1116+49C>A	19.37:g.33130212G>T			Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.P389H	ENST00000306065.4	37	c.1166	CCDS32986.1	19																																																																																			ANKRD27	-	NULL	ENSG00000105186		0.517	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	-	0.00	30	0	G	NM_032139		33130212	-1	tier1	-	no_errors	ENST00000587352	ensembl	human	novel	74_37	missense	8.89	41	4	SNP	0.006	T
ANO5	203859	genome.wustl.edu	37	11	22297708	22297708	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:22297708T>C	ENST00000324559.8	+	21	2800	c.2483T>C	c.(2482-2484)gTc>gCc	p.V828A	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	828					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCTGGCATGTCCTTGCTGCC	0.343																																																	0													110.0	94.0	99.0					11																	22297708		2202	4299	6501	SO:0001583	missense	0			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2483T>C	11.37:g.22297708T>C	ENSP00000315371:p.Val828Ala			Missense_Mutation	SNP	pfam_Anoctamin	p.V828A	ENST00000324559.8	37	c.2483	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874204	0.91664	.	.	ENSG00000171714	ENST00000324559	T	0.63580	-0.05	4.96	4.96	0.65561	.	0.146463	0.64402	N	0.000012	T	0.78000	0.4215	M	0.88906	2.99	0.36788	D	0.884691	P	0.41498	0.752	P	0.51657	0.676	D	0.85827	0.1389	10	0.87932	D	0	.	14.9167	0.70805	0.0:0.0:0.0:1.0	.	828	Q75V66	ANO5_HUMAN	A	828	ENSP00000315371:V828A	ENSP00000315371:V828A	V	+	2	0	ANO5	22254284	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	7.972000	0.88022	1.994000	0.58287	0.454000	0.30748	GTC	ANO5	-	pfam_Anoctamin	ENSG00000171714		0.343	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	-	0.00	62	0	T	NM_213599		22297708	+1	tier1	-	no_errors	ENST00000324559	ensembl	human	known	74_37	missense	11.63	76	10	SNP	1.000	C
APAF1	317	genome.wustl.edu	37	12	99126322	99126322	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:99126322A>G	ENST00000551964.1	+	27	4461	c.3725A>G	c.(3724-3726)tAt>tGt	p.Y1242C	APAF1_ENST00000339433.3_Missense_Mutation_p.Y1157C|APAF1_ENST00000333991.1_3'UTR|APAF1_ENST00000552268.1_3'UTR|APAF1_ENST00000549007.1_Missense_Mutation_p.Y1157C|APAF1_ENST00000547045.1_Missense_Mutation_p.Y1199C|APAF1_ENST00000357310.1_Missense_Mutation_p.Y1199C|APAF1_ENST00000550527.1_Missense_Mutation_p.Y1231C|APAF1_ENST00000359972.2_Missense_Mutation_p.Y1188C	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1242					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GGTATTTTATATATTTTACAG	0.294																																																	0													49.0	48.0	49.0					12																	99126322		2203	4300	6503	SO:0001583	missense	0			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.3725A>G	12.37:g.99126322A>G	ENSP00000448165:p.Tyr1242Cys		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.Y1242C	ENST00000551964.1	37	c.3725	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276603	0.80580	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.67698	0.12;0.3;0.21;-0.28;0.11;0.21;-0.28	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81941	0.4929	M	0.74881	2.28	0.80722	D	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	0.999;1.0;1.0;0.999;0.999	D	0.83822	0.0247	10	0.72032	D	0.01	-17.5903	16.4277	0.83824	1.0:0.0:0.0:0.0	.	1157;1199;1188;1242;1231	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	C	1242;1188;1199;1157;1231;1199;1157	ENSP00000448165:Y1242C;ENSP00000353059:Y1188C;ENSP00000349862:Y1199C;ENSP00000341830:Y1157C;ENSP00000448449:Y1231C;ENSP00000449791:Y1199C;ENSP00000448161:Y1157C	ENSP00000341830:Y1157C	Y	+	2	0	APAF1	97650453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.235000	0.89803	2.279000	0.76181	0.533000	0.62120	TAT	APAF1	-	superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1	ENSG00000120868		0.294	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	-	0.00	27	0	A	NM_181861.1		99126322	+1	tier1	-	no_errors	ENST00000551964	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	G
ARAP2	116984	genome.wustl.edu	37	4	36214868	36214868	+	Silent	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr4:36214868G>T	ENST00000303965.4	-	4	1527	c.1038C>A	c.(1036-1038)tcC>tcA	p.S346S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	346					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GACTAACCTTGGAATTTTCTA	0.348																																																	0													66.0	70.0	69.0					4																	36214868		2203	4296	6499	SO:0001819	synonymous_variant	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1038C>A	4.37:g.36214868G>T			Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.S346	ENST00000303965.4	37	c.1038	CCDS3441.1	4																																																																																			ARAP2	-	NULL	ENSG00000047365		0.348	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0.00	50	0	G	NM_015230		36214868	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	T
ATP8B4	79895	genome.wustl.edu	37	15	50366377	50366377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr15:50366377C>A	ENST00000284509.6	-	3	175	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E12*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	12						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACTATCCGTTCCACTTCTAAA	0.353																																																	0													165.0	145.0	152.0					15																	50366377		2196	4293	6489	SO:0001587	stop_gained	0			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.34G>T	15.37:g.50366377C>A	ENSP00000284509:p.Glu12*		Q9H727	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E12*	ENST00000284509.6	37	c.34	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	41	8.684946	0.98914	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.15	4.22	0.49857	.	0.269984	0.29009	N	0.013436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	11.7727	0.51968	0.0:0.8226:0.1774:0.0	.	.	.	.	X	12	.	ENSP00000284509:E12X	E	-	1	0	ATP8B4	48153669	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.196000	0.42686	1.146000	0.42352	0.650000	0.86243	GAA	ATP8B4	-	NULL	ENSG00000104043		0.353	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	-	0.00	56	0	C	NM_024837		50366377	-1	tier1	-	no_errors	ENST00000284509	ensembl	human	known	74_37	nonsense	6.15	60	4	SNP	1.000	A
ATRNL1	26033	genome.wustl.edu	37	10	117075177	117075177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:117075177G>T	ENST00000355044.3	+	18	3094	c.2968G>T	c.(2968-2970)Gag>Tag	p.E990*	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.E87*	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	990	PSI 5.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCACCACAGTGAGATGGTTCT	0.418																																																	0													129.0	119.0	122.0					10																	117075177		2203	4300	6503	SO:0001587	stop_gained	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2968G>T	10.37:g.117075177G>T	ENSP00000347152:p.Glu990*		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.E990*	ENST00000355044.3	37	c.2968	CCDS7592.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.468397|5.468397	0.96274|0.96274	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.092903|.	0.64402|.	D|.	0.000001|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.30078|.	T|.	0.28|.	-8.6523|-8.6523	19.0432|19.0432	0.93010|0.93010	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	990;87|119	.|.	ENSP00000347152:E990X|.	E|X	+|+	1|2	0|2	ATRNL1|ATRNL1	117065167|117065167	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.860000|0.860000	0.49131|0.49131	9.338000|9.338000	0.96553|0.96553	2.510000|2.510000	0.84645|0.84645	0.455000|0.455000	0.32223|0.32223	GAG|TGA	ATRNL1	-	pfam_Plexin_repeat,smart_Plexin-like_fold	ENSG00000107518		0.418	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0.00	58	0	G	XM_049349		117075177	+1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	T
BCLAF1	9774	genome.wustl.edu	37	6	136596731	136596731	+	Silent	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr6:136596731G>T	ENST00000531224.1	-	6	2043	c.1791C>A	c.(1789-1791)gcC>gcA	p.A597A	BCLAF1_ENST00000527536.1_Silent_p.A597A|BCLAF1_ENST00000527759.1_Silent_p.A595A|BCLAF1_ENST00000530767.1_Silent_p.A424A|BCLAF1_ENST00000353331.4_Silent_p.A595A|BCLAF1_ENST00000392348.2_Silent_p.A595A	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	597					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCTTTTGCTGGCCTGTGGCA	0.398																																					Colon(142;1534 1789 5427 7063 28491)												0													209.0	190.0	196.0					6																	136596731		2203	4300	6503	SO:0001819	synonymous_variant	0			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1791C>A	6.37:g.136596731G>T			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	NULL	p.A597	ENST00000531224.1	37	c.1791	CCDS5177.1	6																																																																																			BCLAF1	-	NULL	ENSG00000029363		0.398	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2		0.00	135	0	G	NM_014739		136596731	-1			no_errors	ENST00000531224	ensembl	human	known	74_37	silent	8.57	95	9	SNP	1.000	T
BRD7	29117	genome.wustl.edu	37	16	50368678	50368679	+	Frame_Shift_Del	DEL	CT	CT	-	rs145896392		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:50368678_50368679delCT	ENST00000394688.3	-	7	989_990	c.830_831delAG	c.(829-831)gagfs	p.E277fs	BRD7_ENST00000394689.2_Frame_Shift_Del_p.E277fs			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	277					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CTCCAGAGTCCTCTCTCTCTCT	0.47																																																	0																																										SO:0001589	frameshift_variant	0			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.830_831delAG	16.37:g.50368688_50368689delCT	ENSP00000378180:p.Glu277fs		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Frame_Shift_Del	DEL	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E277fs	ENST00000394688.3	37	c.831_830	CCDS10742.1	16																																																																																			BRD7	-	NULL	ENSG00000166164		0.470	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3		0.00	21	0	CT	NM_013263		50368679	-1	tier1		no_errors	ENST00000394689	ensembl	human	known	74_37	frame_shift_del	23.08	10	3	DEL	0.079:0.258	-
C10orf90	118611	genome.wustl.edu	37	10	128192578	128192578	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:128192578G>T	ENST00000284694.7	-	3	1311	c.1191C>A	c.(1189-1191)agC>agA	p.S397R	C10orf90_ENST00000454341.1_Missense_Mutation_p.S397R|C10orf90_ENST00000544758.1_Missense_Mutation_p.S494R|C10orf90_ENST00000356858.3_Missense_Mutation_p.S350R|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.S350R	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	397					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGGCATGATCGCTGGCGTGAC	0.483											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													202.0	144.0	164.0					10																	128192578		2203	4300	6503	SO:0001583	missense	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1191C>A	10.37:g.128192578G>T	ENSP00000284694:p.Ser397Arg	1563	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.S494R	ENST00000284694.7	37	c.1482	CCDS31310.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.800|9.800	1.180376|1.180376	0.21787|0.21787	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000424927|ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	.|T;T;T;T;T	.|0.23950	.|2.21;2.22;2.21;2.21;1.88	5.09|5.09	-6.36|-6.36	0.01969|0.01969	.|.	.|0.724698	.|0.13346	.|N	.|0.394778	T|T	0.11410|0.11410	0.0278|0.0278	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.25809	.|0.112;0.135;0.052;0.112;0.112	.|B;B;B;B;B	.|0.24974	.|0.057;0.041;0.039;0.057;0.057	T|T	0.25152|0.25152	-1.0140|-1.0140	5|10	.|0.25106	.|T	.|0.35	-0.9479|-0.9479	7.6536|7.6536	0.28363|0.28363	0.5203:0.204:0.2757:0.0|0.5203:0.204:0.2757:0.0	.|.	.|494;494;350;397;397	.|F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.|.;.;.;CJ090_HUMAN;.	E|R	37|350;397;397;494;397;350;350	.|ENSP00000284694:S397R;ENSP00000398786:S397R;ENSP00000444369:S494R;ENSP00000405995:S397R;ENSP00000376459:S350R	.|ENSP00000284694:S397R	A|S	-|-	2|3	0|2	C10orf90|C10orf90	128182568|128182568	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.037000|0.037000	0.13140|0.13140	-1.534000|-1.534000	0.02212|0.02212	-0.888000|-0.888000	0.03956|0.03956	-0.781000|-0.781000	0.03364|0.03364	GCG|AGC	C10orf90	-	NULL	ENSG00000154493		0.483	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		-	0.00	127	0	G	NM_001004298		128192578	-1	tier1	-	no_errors	ENST00000544758	ensembl	human	known	74_37	missense	23.36	105	32	SNP	0.000	T
C1orf192	257177	genome.wustl.edu	37	1	161335367	161335368	+	Frame_Shift_Ins	INS	-	-	T	rs528758301		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:161335367_161335368insT	ENST00000367974.1	-	4	301_302	c.296_297insA	c.(295-297)aatfs	p.N99fs	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	99										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTAAATCAGGATTTTTCTGTAT	0.495																																																	0																																										SO:0001589	frameshift_variant	0				CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.297dupA	1.37:g.161335372_161335372dupT	ENSP00000356951:p.Asn99fs			Frame_Shift_Ins	INS	NULL	p.N99fs	ENST00000367974.1	37	c.297_296	CCDS30921.1	1																																																																																			C1orf192	-	NULL	ENSG00000188931		0.495	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf192	HGNC	protein_coding	OTTHUMT00000083309.1		0.00	86	0	0	NM_001013625		161335368	-1			no_errors	ENST00000367974	ensembl	human	known	74_37	frame_shift_ins	9.00	91	9	INS	0.977:0.985	T
C3	718	genome.wustl.edu	37	19	6693004	6693004	+	Silent	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:6693004C>T	ENST00000245907.6	-	26	3413	c.3321G>A	c.(3319-3321)ctG>ctA	p.L1107L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1107					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TCTCCAGGATCAGCCATTTAA	0.557																																																	0													113.0	119.0	117.0					19																	6693004		2203	4300	6503	SO:0001819	synonymous_variant	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3321G>A	19.37:g.6693004C>T			A7E236	Silent	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.L1107	ENST00000245907.6	37	c.3321	CCDS32883.1	19																																																																																			C3	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000125730		0.557	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	-	0.00	73	0	C	NM_000064		6693004	-1	tier1	-	no_errors	ENST00000245907	ensembl	human	known	74_37	silent	28.57	35	14	SNP	1.000	T
C4orf50	389197	genome.wustl.edu	37	4	5990869	5990870	+	5'Flank	DEL	CT	CT	-	rs143859826		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr4:5990869_5990870delCT	ENST00000324058.5	-	0	0				C4orf50_ENST00000531445.1_Frame_Shift_Del_p.E210fs			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TTTTTGTCACCTCTCTCTCTCT	0.455																																																	0																																										SO:0001631	upstream_gene_variant	0			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971		4.37:g.5990879_5990880delCT	Exception_encountered			Frame_Shift_Del	DEL	NULL	p.E210fs	ENST00000324058.5	37	c.630_629		4																																																																																			C4orf50	-	NULL	ENSG00000181215		0.455	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	HGNC	protein_coding			0.00	41	0	CT	NM_207405		5990870	-1	tier1		no_errors	ENST00000531445	ensembl	human	known	74_37	frame_shift_del	11.76	30	4	DEL	0.000:0.000	-
C7orf49	78996	genome.wustl.edu	37	7	134853654	134853654	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:134853654C>G	ENST00000393114.3	-	2	202	c.21G>C	c.(19-21)gaG>gaC	p.E7D	C7orf49_ENST00000430372.1_5'UTR|C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000424142.1_5'UTR|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000483029.2_Intron			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	7						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TCGTTTTAGTCTCGGATTGTA	0.483											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													100.0	88.0	92.0					7																	134853654		692	1591	2283	SO:0001583	missense	0			BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.21G>C	7.37:g.134853654C>G	ENSP00000376823:p.Glu7Asp	1613	Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	NULL	p.E7D	ENST00000393114.3	37	c.21	CCDS5838.2	7	.	.	.	.	.	.	.	.	.	.	C	9.339	1.062416	0.19987	.	.	ENSG00000122783	ENST00000393114	.	.	.	4.21	2.37	0.29283	.	.	.	.	.	T	0.23171	0.0560	N	0.19112	0.55	0.19300	N	0.999977	B	0.09022	0.002	B	0.08055	0.003	T	0.24083	-1.0170	8	0.18276	T	0.48	-0.0952	5.1454	0.14981	0.2021:0.6896:0.0:0.1082	.	7	Q9BWK5	MRI_HUMAN	D	7	.	ENSP00000376823:E7D	E	-	3	2	C7orf49	134504194	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-0.570000	0.05895	0.415000	0.25817	0.205000	0.17691	GAG	C7orf49	-	NULL	ENSG00000122783		0.483	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf49	HGNC	protein_coding	OTTHUMT00000340145.1		0.00	34	0	C	NM_024033		134853654	-1			no_errors	ENST00000393114	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.001	G
CALM1	801	genome.wustl.edu	37	14	90866417	90866417	+	Silent	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr14:90866417G>A	ENST00000356978.4	+	2	260	c.12G>A	c.(10-12)caG>caA	p.Q4Q	CALM1_ENST00000553542.1_De_novo_Start_InFrame|RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000447653.3_Silent_p.Q5Q|CALM1_ENST00000544280.2_De_novo_Start_InFrame	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	4					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|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 cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	AGGCTGATCAGCTGACCGAAG	0.418											OREG0022864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													167.0	163.0	164.0					14																	90866417		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"""EF-hand domain containing"", ""Endogenous ligands"""	1442	protein-coding gene	gene with protein product	"""prepro-calmodulin 1"""	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.12G>A	14.37:g.90866417G>A		1278	P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Silent	SNP	pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.Q4	ENST00000356978.4	37	c.12	CCDS9892.1	14																																																																																			CALM1	-	NULL	ENSG00000198668		0.418	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CALM1	HGNC	protein_coding	OTTHUMT00000411346.1	-	0.00	60	0	G			90866417	+1	tier1	-	no_errors	ENST00000356978	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	A
CCT6B	10693	genome.wustl.edu	37	17	33255125	33255125	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:33255125G>A	ENST00000314144.5	-	14	1650	c.1535C>T	c.(1534-1536)gCc>gTc	p.A512V	CCT6B_ENST00000436961.3_Missense_Mutation_p.A467V|CCT6B_ENST00000421975.3_Missense_Mutation_p.A475V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	512					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				AATGTTGGTGGCAATCACTGT	0.398																																																	0													110.0	97.0	101.0					17																	33255125		2203	4300	6503	SO:0001583	missense	0			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1535C>T	17.37:g.33255125G>A	ENSP00000327191:p.Ala512Val		B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.A512V	ENST00000314144.5	37	c.1535	CCDS32617.1	17	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624501	0.87560	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	D;D;D	0.82893	-1.66;-1.66;-1.66	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.86543	0.5958	M	0.67517	2.055	0.80722	D	1	B;P;P	0.46020	0.215;0.735;0.871	B;P;P	0.50192	0.438;0.571;0.634	D	0.87919	0.2702	10	0.87932	D	0	-8.8186	16.5065	0.84273	0.0:0.0:1.0:0.0	.	467;475;512	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	V	475;512;467	ENSP00000398044:A475V;ENSP00000327191:A512V;ENSP00000400917:A467V	ENSP00000327191:A512V	A	-	2	0	CCT6B	30279238	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.166000	0.89665	2.834000	0.97654	0.655000	0.94253	GCC	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta	ENSG00000132141		0.398	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	-	0.00	93	0	G	NM_006584		33255125	-1	tier1	-	no_errors	ENST00000314144	ensembl	human	known	74_37	missense	37.36	57	34	SNP	1.000	A
CDH11	1009	genome.wustl.edu	37	16	64984804	64984804	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:64984804G>A	ENST00000268603.4	-	12	2375	c.1760C>T	c.(1759-1761)aCc>aTc	p.T587I	CDH11_ENST00000566827.1_Missense_Mutation_p.T461I|CDH11_ENST00000394156.3_Missense_Mutation_p.T587I	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	587	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GATGGTGAGGGTGTTGGTGCT	0.622			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													117.0	95.0	102.0					16																	64984804		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1760C>T	16.37:g.64984804G>A	ENSP00000268603:p.Thr587Ile		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T587I	ENST00000268603.4	37	c.1760	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	G	31	5.066077	0.93898	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.63744	1.92;-0.06	5.7	5.7	0.88788	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79575	0.4469	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.847	T	0.80446	-0.1379	10	0.66056	D	0.02	.	18.8196	0.92090	0.0:0.0:1.0:0.0	.	587;587	P55287-2;P55287	.;CAD11_HUMAN	I	587;587;570	ENSP00000268603:T587I;ENSP00000377711:T587I	ENSP00000268603:T587I	T	-	2	0	CDH11	63542305	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.864000	0.99589	2.675000	0.91044	0.655000	0.94253	ACC	CDH11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.622	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0.00	51	0	G	NM_033664		64984804	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	10.77	58	7	SNP	1.000	A
CDHR3	222256	genome.wustl.edu	37	7	105668105	105668106	+	Intron	INS	-	-	A	rs199801202|rs145019687		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:105668105_105668106insA	ENST00000317716.9	+	17	2352				CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Intron|CDHR3_ENST00000478080.1_Intron	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GTGttttaattaaaaaaaaaaa	0.426																																																	0																																										SO:0001627	intron_variant	0			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2273-891->A	7.37:g.105668116_105668116dupA			Q8TCI7	Splice_Site	INS	-	e16-2	ENST00000317716.9	37	c.2259-3_2259-2	CCDS47684.1	7																																																																																			CDHR3	-	-	ENSG00000128536		0.426	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2		0.00	48	0	-	NM_152750		105668106	+1	tier1		no_errors	ENST00000542731	ensembl	human	known	74_37	splice_site_ins	14.71	58	10	INS	0.004:0.000	A
CELSR1	9620	genome.wustl.edu	37	22	46793652	46793652	+	Missense_Mutation	SNP	C	C	T	rs141922879		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr22:46793652C>T	ENST00000262738.3	-	12	5619	c.5620G>A	c.(5620-5622)Gac>Aac	p.D1874N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1874	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.D1874Y(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTACAGGGGTCGTCCACATCA	0.642																																																	1	Substitution - Missense(1)	lung(1)						C	ASN/ASP	4,4400	6.2+/-15.9	0,4,2198	116.0	73.0	87.0		5620	-0.4	0.1	22	dbSNP_134	87	0,8598		0,0,4299	no	missense	CELSR1	NM_014246.1	23	0,4,6497	TT,TC,CC		0.0,0.0908,0.0308	benign	1874/3015	46793652	4,12998	2202	4299	6501	SO:0001583	missense	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5620G>A	22.37:g.46793652C>T	ENSP00000262738:p.Asp1874Asn		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.D1874N	ENST00000262738.3	37	c.5620	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	2.627	-0.287240	0.05605	9.08E-4	0.0	ENSG00000075275	ENST00000262738	T	0.30981	1.51	4.16	-0.444	0.12245	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.231768	0.34002	N	0.004352	T	0.11623	0.0283	N	0.19112	0.55	0.80722	D	1	B;B	0.32324	0.364;0.01	B;B	0.24541	0.054;0.004	T	0.33137	-0.9880	10	0.02654	T	1	.	7.6198	0.28179	0.0:0.3487:0.0:0.6513	.	195;1874	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	N	1874	ENSP00000262738:D1874N	ENSP00000262738:D1874N	D	-	1	0	CELSR1	45172316	0.475000	0.25894	0.131000	0.22000	0.463000	0.32649	0.929000	0.28844	0.039000	0.15632	0.491000	0.48974	GAC	CELSR1	-	smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000075275		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	-	0.00	113	0	C	NM_014246		46793652	-1	tier1	rs141922879	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	19.79	77	19	SNP	0.878	T
CHD7	55636	genome.wustl.edu	37	8	61763057	61763057	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr8:61763057G>A	ENST00000423902.2	+	26	5889	c.5410G>A	c.(5410-5412)Gag>Aag	p.E1804K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1804					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)	p.E1804*(2)		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)			CACAGGCTATGAGAAGTACAA	0.527																																																	2	Substitution - Nonsense(2)	lung(2)											45.0	49.0	48.0					8																	61763057		2100	4215	6315	SO:0001583	missense	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.5410G>A	8.37:g.61763057G>A	ENSP00000392028:p.Glu1804Lys		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	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.E1804K	ENST00000423902.2	37	c.5410	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.754787	0.96890	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.91124	-2.79	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.96087	0.8725	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.96447	0.9331	10	0.87932	D	0	-24.9522	19.3689	0.94477	0.0:0.0:1.0:0.0	.	1804	Q9P2D1	CHD7_HUMAN	K	1804	ENSP00000392028:E1804K	ENSP00000307304:E1804K	E	+	1	0	CHD7	61925611	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.579000	0.87056	0.650000	0.86243	GAG	CHD7	-	NULL	ENSG00000171316		0.527	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0.00	91	0	G	XM_098762		61763057	+1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	missense	9.46	67	7	SNP	1.000	A
CHD9	80205	genome.wustl.edu	37	16	53262985	53262985	+	Silent	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:53262985A>G	ENST00000398510.3	+	7	2346	c.2259A>G	c.(2257-2259)caA>caG	p.Q753Q	CHD9_ENST00000447540.1_Silent_p.Q753Q|CHD9_ENST00000566029.1_Silent_p.Q753Q|CHD9_ENST00000564845.1_Silent_p.Q753Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	753	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AATTGAGACAAGCACAAAGAG	0.328																																																	0													33.0	29.0	30.0					16																	53262985		1806	4072	5878	SO:0001819	synonymous_variant	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2259A>G	16.37:g.53262985A>G			B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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.Q753	ENST00000398510.3	37	c.2259		16																																																																																			CHD9	-	smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000177200		0.328	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1		0.00	55	0	A	NM_025134		53262985	+1			no_errors	ENST00000398510	ensembl	human	known	74_37	silent	10.34	26	3	SNP	1.000	G
CHRD	8646	genome.wustl.edu	37	3	184106703	184106703	+	Missense_Mutation	SNP	G	G	A	rs372347094		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr3:184106703G>A	ENST00000204604.1	+	22	2978	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q	CHRD_ENST00000545352.1_Missense_Mutation_p.R453Q|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.R871Q|CHRD_ENST00000450923.1_Missense_Mutation_p.R911Q	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	911	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.R911Q(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACTGTGAGCGGGATGACTGT	0.622																																																	1	Substitution - Missense(1)	lung(1)						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	91.0	96.0		2732	4.9	1.0	3		96	0,8600		0,0,4300	no	missense	CHRD	NM_003741.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	911/956	184106703	1,13005	2203	4300	6503	SO:0001583	missense	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2732G>A	3.37:g.184106703G>A	ENSP00000204604:p.Arg911Gln		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.R911Q	ENST00000204604.1	37	c.2732	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460362	0.84317	2.27E-4	0.0	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.93	4.93	0.64822	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	T	0.78477	0.4289	M	0.77406	2.37	0.26521	N	0.974434	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.984;0.996;0.992;0.997	T	0.72462	-0.4286	10	0.66056	D	0.02	-24.7512	13.6767	0.62458	0.0:0.0:1.0:0.0	.	453;871;911;911	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	Q	911;911;871;453	ENSP00000204604:R911Q;ENSP00000408972:R911Q;ENSP00000334036:R871Q;ENSP00000442948:R453Q	ENSP00000204604:R911Q	R	+	2	0	CHRD	185589397	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.184000	0.65070	2.273000	0.75805	0.655000	0.94253	CGG	CHRD	-	smart_VWF_C,pirsf_Chordin	ENSG00000090539		0.622	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	-	0.00	51	0	G	NM_003741		184106703	+1	tier1	-	no_errors	ENST00000204604	ensembl	human	known	74_37	missense	41.89	43	31	SNP	1.000	A
CITED2	10370	genome.wustl.edu	37	6	139694663	139694663	+	Missense_Mutation	SNP	G	G	T	rs200447882		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr6:139694663G>T	ENST00000367651.2	-	2	634	c.419C>A	c.(418-420)cCt>cAt	p.P140H	CITED2_ENST00000536159.1_Missense_Mutation_p.P140H|CITED2_ENST00000537332.1_Missense_Mutation_p.P140H	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	140					adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		GCCTGCAGCAGGGTGCAAATC	0.632																																					NSCLC(98;1219 1550 33720 43229 49330)												0													118.0	131.0	126.0					6																	139694663		2203	4300	6503	SO:0001583	missense	0			U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.419C>A	6.37:g.139694663G>T	ENSP00000356623:p.Pro140His		O95426|Q5VTF4	Missense_Mutation	SNP	pfam_CITED	p.P140H	ENST00000367651.2	37	c.419	CCDS5195.1	6	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637146	0.47049	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.65549	-0.16;-0.16;-0.16	3.86	3.86	0.44501	.	0.448361	0.19242	N	0.119123	T	0.59500	0.2198	L	0.44542	1.39	0.54753	D	0.999986	D	0.56968	0.978	P	0.62089	0.898	T	0.56805	-0.7918	9	.	.	.	-0.0285	11.6638	0.51363	0.0:0.0:1.0:0.0	.	140	Q99967	CITE2_HUMAN	H	140	ENSP00000356623:P140H;ENSP00000442831:P140H;ENSP00000444198:P140H	.	P	-	2	0	CITED2	139736356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.623000	0.61247	2.484000	0.83849	0.456000	0.33151	CCT	CITED2	-	pfam_CITED	ENSG00000164442		0.632	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CITED2	HGNC	protein_coding	OTTHUMT00000042463.1	-	0.00	45	0	G			139694663	-1	tier1	-	no_errors	ENST00000367651	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
COPE	11316	genome.wustl.edu	37	19	19010510	19010510	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:19010510A>G	ENST00000262812.4	-	10	953	c.905T>C	c.(904-906)cTa>cCa	p.L302P	COPE_ENST00000351079.4_Missense_Mutation_p.L251P|COPE_ENST00000598969.1_5'UTR|COPE_ENST00000349893.4_Missense_Mutation_p.L250P|COPE_ENST00000600932.1_Missense_Mutation_p.L325P|CERS1_ENST00000542296.2_5'Flank	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	302					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						AGCGTACTGTAGCACCAGCCT	0.642																																																	0													65.0	61.0	62.0					19																	19010510		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.905T>C	19.37:g.19010510A>G	ENSP00000262812:p.Leu302Pro		A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP	pfam_Coatomer_esu,pirsf_Coatomer_esu	p.L302P	ENST00000262812.4	37	c.905	CCDS12387.1	19	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177392	0.38413	.	.	ENSG00000105669	ENST00000262812;ENST00000351079;ENST00000349893;ENST00000538245	T;T;T	0.47177	0.85;0.85;1.48	3.56	3.56	0.40772	.	0.221526	0.43579	D	0.000551	T	0.49508	0.1561	L	0.54323	1.7	0.80722	D	1	P;P;B;P	0.48089	0.458;0.767;0.355;0.905	B;P;P;P	0.50162	0.432;0.633;0.516;0.556	T	0.43718	-0.9374	10	0.30854	T	0.27	-8.0933	11.2281	0.48897	1.0:0.0:0.0:0.0	.	302;250;251;302	Q53HJ6;A6NE29;A6NKA3;O14579	.;.;.;COPE_HUMAN	P	302;251;250;301	ENSP00000262812:L302P;ENSP00000345674:L251P;ENSP00000343134:L250P	ENSP00000262812:L302P	L	-	2	0	COPE	18871510	1.000000	0.71417	0.989000	0.46669	0.567000	0.35839	6.597000	0.74118	1.394000	0.46624	0.260000	0.18958	CTA	COPE	-	pfam_Coatomer_esu,pirsf_Coatomer_esu	ENSG00000105669		0.642	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1	-	0.00	133	0	A	NM_007263		19010510	-1	tier1	-	no_errors	ENST00000262812	ensembl	human	known	74_37	missense	9.59	132	14	SNP	0.997	G
CPD	1362	genome.wustl.edu	37	17	28772820	28772820	+	Silent	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:28772820A>G	ENST00000225719.4	+	12	2731	c.2655A>G	c.(2653-2655)aaA>aaG	p.K885K	CPD_ENST00000543464.2_Silent_p.K638K	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	885	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAAAGGAAAAGGGGCTAGCA	0.413																																																	0													57.0	55.0	56.0					17																	28772820		2203	4300	6503	SO:0001819	synonymous_variant	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2655A>G	17.37:g.28772820A>G			B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.K885	ENST00000225719.4	37	c.2655	CCDS11257.1	17																																																																																			CPD	-	smart_Peptidase_M14	ENSG00000108582		0.413	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	-	0.00	48	0	A	NM_001304		28772820	+1	tier1	-	no_errors	ENST00000225719	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.929	G
CUEDC1	404093	genome.wustl.edu	37	17	55950050	55950050	+	Missense_Mutation	SNP	C	C	T	rs546364600		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:55950050C>T	ENST00000577830.1	-	5	1171	c.758G>A	c.(757-759)cGc>cAc	p.R253H	CUEDC1_ENST00000578357.1_5'Flank|CUEDC1_ENST00000360238.2_Missense_Mutation_p.R253H|CUEDC1_ENST00000407144.2_Missense_Mutation_p.R253H|CUEDC1_ENST00000577840.1_Missense_Mutation_p.R116H	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	253										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GAGGAAGTCGCGGTTCCGTTG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		19334	0.001		0.0	False		,,,				2504	0.0																0													62.0	49.0	53.0					17																	55950050		2203	4300	6503	SO:0001583	missense	0			AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.758G>A	17.37:g.55950050C>T	ENSP00000462717:p.Arg253His		D3DTZ2|Q9NWD0	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.R253H	ENST00000577830.1	37	c.758	CCDS11599.1	17	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554534	0.65425	.	.	ENSG00000180891	ENST00000407144;ENST00000360238	T;T	0.25414	1.8;1.8	5.46	5.46	0.80206	.	0.051344	0.85682	D	0.000000	T	0.29652	0.0740	M	0.71581	2.175	0.80722	D	1	B	0.34147	0.438	B	0.23018	0.043	T	0.14924	-1.0455	10	0.66056	D	0.02	-37.2548	17.4943	0.87713	0.0:1.0:0.0:0.0	.	253	Q9NWM3	CUED1_HUMAN	H	253	ENSP00000384712:R253H;ENSP00000353373:R253H	ENSP00000353373:R253H	R	-	2	0	CUEDC1	53305049	0.997000	0.39634	0.867000	0.34043	0.490000	0.33462	3.576000	0.53878	2.561000	0.86390	0.655000	0.94253	CGC	CUEDC1	-	NULL	ENSG00000180891		0.617	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUEDC1	HGNC	protein_coding	OTTHUMT00000443305.1		0.00	77	0	C	NM_017949		55950050	-1			no_errors	ENST00000360238	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
CYYR1	116159	genome.wustl.edu	37	21	27852733	27852733	+	Silent	SNP	C	C	T	rs200072933		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr21:27852733C>T	ENST00000299340.4	-	3	535	c.192G>A	c.(190-192)gcG>gcA	p.A64A	AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|CYYR1_ENST00000400043.3_Silent_p.A64A|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	64						integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						AAACAATGCCCGCAATTGCAG	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		18048	0.0		0.001	False		,,,				2504	0.0																0								C		2,4404	4.2+/-10.8	0,2,2201	109.0	100.0	103.0		192	-8.6	0.7	21		103	0,8600		0,0,4300	no	coding-synonymous	CYYR1	NM_052954.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		64/155	27852733	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"""cysteine and tyrosine-rich 1"""	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.192G>A	21.37:g.27852733C>T			A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	pfam_CYYR1	p.A64	ENST00000299340.4	37	c.192	CCDS13578.1	21																																																																																			CYYR1	-	pfam_CYYR1	ENSG00000166265		0.433	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYYR1	HGNC	protein_coding	OTTHUMT00000171654.2		0.00	35	0	C	NM_052954		27852733	-1			no_errors	ENST00000299340	ensembl	human	known	74_37	silent	11.11	24	3	SNP	0.699	T
DCAF6	55827	genome.wustl.edu	37	1	168007624	168007624	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:168007624A>T	ENST00000312263.6	+	11	1598	c.1394A>T	c.(1393-1395)aAg>aTg	p.K465M	DCAF6_ENST00000367843.3_Missense_Mutation_p.K485M|DCAF6_ENST00000367840.3_Missense_Mutation_p.K542M|DCAF6_ENST00000432587.2_Missense_Mutation_p.K511M	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	465					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AATAATGAAAAGCTGAGCCCC	0.318																																																	0													75.0	75.0	75.0					1																	168007624		2203	4300	6503	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1394A>T	1.37:g.168007624A>T	ENSP00000311949:p.Lys465Met		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.K542M	ENST00000312263.6	37	c.1625	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.312997	0.60414	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.13	2.79	0.32731	WD40 repeat-like-containing domain (1);	0.603254	0.17090	N	0.187425	T	0.17450	0.0419	N	0.24115	0.695	0.09310	N	0.999998	D;D;D;D	0.61697	0.963;0.99;0.958;0.988	P;P;P;P	0.57548	0.707;0.771;0.595;0.823	T	0.05566	-1.0877	9	0.54805	T	0.06	.	7.5047	0.27538	0.8131:0.0:0.1869:0.0	.	511;542;465;485	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	M	485;511;465;542	ENSP00000356817:K485M;ENSP00000396238:K511M;ENSP00000311949:K465M;ENSP00000356814:K542M	ENSP00000311949:K465M	K	+	2	0	DCAF6	166274248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.458000	0.35223	0.378000	0.24764	0.477000	0.44152	AAG	DCAF6	-	superfamily_WD40_repeat_dom	ENSG00000143164		0.318	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2		0.00	27	0	A	NM_018442		168007624	+1			no_errors	ENST00000367840	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T
DGCR2	9993	genome.wustl.edu	37	22	19048340	19048340	+	Intron	SNP	T	T	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr22:19048340T>A	ENST00000263196.7	-	5	873				DGCR2_ENST00000545799.1_Missense_Mutation_p.R249W|DGCR2_ENST00000473832.1_Intron|DGCR2_ENST00000537045.1_Intron	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2						cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GGGGAGCGCCTGGAGAGCGCT	0.617																																																	0													14.0	14.0	14.0					22																	19048340		876	1991	2867	SO:0001627	intron_variant	0			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.625+2374A>T	22.37:g.19048340T>A			A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,pfscan_LDrepeatLR_classA_rpt	p.R249W	ENST00000263196.7	37	c.745	CCDS33598.1	22	.	.	.	.	.	.	.	.	.	.	T	4.888	0.164964	0.09339	.	.	ENSG00000070413	ENST00000545799	D	0.97328	-4.34	2.26	-4.52	0.03472	.	.	.	.	.	D	0.94282	0.8163	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.88383	0.3003	6	0.87932	D	0	.	3.6463	0.08186	0.3305:0.4567:0.0:0.2128	.	.	.	.	W	249	ENSP00000445069:R249W	ENSP00000445069:R249W	R	-	1	2	DGCR2	17428340	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.521000	0.06245	-1.802000	0.01244	-1.234000	0.01563	AGG	DGCR2	-	NULL	ENSG00000070413		0.617	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DGCR2	HGNC	protein_coding	OTTHUMT00000316504.1		0.00	38	0	T	NM_005137		19048340	-1			no_errors	ENST00000545799	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.000	A
DMTF1	9988	genome.wustl.edu	37	7	86811353	86811354	+	Intron	INS	-	-	T	rs576796206		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:86811353_86811354insT	ENST00000394703.5	+	12	1273				DMTF1_ENST00000411766.2_Frame_Shift_Ins_p.CF203fs|DMTF1_ENST00000331242.7_Intron|DMTF1_ENST00000394702.3_Frame_Shift_Ins_p.CF244fs|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000414194.2_Intron|DMTF1_ENST00000413276.2_Intron	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1						cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ATTGCTGCCTGTTTTTTTTTCA	0.421																																																	0																																										SO:0001627	intron_variant	0			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.711-190->T	7.37:g.86811362_86811362dupT			B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Frame_Shift_Ins	INS	NULL	p.F248fs	ENST00000394703.5	37	c.731_732	CCDS5601.1	7																																																																																			DMTF1	-	NULL	ENSG00000135164		0.421	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	DMTF1	HGNC	protein_coding	OTTHUMT00000334025.5		0.00	54	0	0	NM_021145		86811354	+1			no_errors	ENST00000394702	ensembl	human	known	74_37	frame_shift_ins	5.51	120	7	INS	1.000:1.000	T
DNAH7	56171	genome.wustl.edu	37	2	196749416	196749416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr2:196749416G>A	ENST00000312428.6	-	35	5756	c.5656C>T	c.(5656-5658)Cga>Tga	p.R1886*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1886			R -> Q (in dbSNP:rs13034775).		cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AACGTATTTCGAGTTCGATCT	0.353																																																	0													123.0	115.0	117.0					2																	196749416		1884	4103	5987	SO:0001587	stop_gained	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5656C>T	2.37:g.196749416G>A	ENSP00000311273:p.Arg1886*		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R1886*	ENST00000312428.6	37	c.5656	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	43	10.372560	0.99393	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.67	4.68	0.58851	.	0.325278	0.26753	N	0.022671	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4775	0.50306	0.0:0.0:0.6411:0.3589	.	.	.	.	X	1886	.	ENSP00000311273:R1886X	R	-	1	2	DNAH7	196457661	0.998000	0.40836	0.978000	0.43139	0.062000	0.15995	4.283000	0.58977	2.820000	0.97059	0.655000	0.94253	CGA	DNAH7	-	NULL	ENSG00000118997		0.353	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0.00	33	0	G	NM_018897		196749416	-1			no_errors	ENST00000312428	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	0.995	A
DOCK4	9732	genome.wustl.edu	37	7	111509684	111509684	+	Nonsense_Mutation	SNP	G	G	T	rs200120389		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:111509684G>T	ENST00000437633.1	-	21	2311	c.2055C>A	c.(2053-2055)taC>taA	p.Y685*	DOCK4_ENST00000428084.1_Nonsense_Mutation_p.Y685*|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	685					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.Y673*(1)|p.Y685*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCCGGTCCACGTACCATTTGA	0.423																																																	2	Substitution - Nonsense(2)	endometrium(2)											151.0	134.0	140.0					7																	111509684		1973	4168	6141	SO:0001587	stop_gained	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2055C>A	7.37:g.111509684G>T	ENSP00000404179:p.Tyr685*		O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain	p.Y685*	ENST00000437633.1	37	c.2055	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.616712|5.616712	0.96649|0.96649	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|.	.|.	.|.	5.3|5.3	-9.47|-9.47	0.00594|0.00594	.|.	.|0.320500	.|0.34750	.|N	.|0.003717	T|.	0.33904|.	0.0879|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48127|.	-0.9062|.	4|.	.|0.02654	.|T	.|1	.|.	16.0849|16.0849	0.81038|0.81038	0.4039:0.0:0.5961:0.0|0.4039:0.0:0.5961:0.0	.|.	.|.	.|.	.|.	K|X	137;673|673;685;685;673;684	.|.	.|ENSP00000345432:Y673X	T|Y	-|-	2|3	0|2	DOCK4|DOCK4	111296920|111296920	0.872000|0.872000	0.30054|0.30054	0.654000|0.654000	0.29608|0.29608	0.978000|0.978000	0.69477|0.69477	0.089000|0.089000	0.15002|0.15002	-2.119000|-2.119000	0.00827|0.00827	-1.126000|-1.126000	0.01995|0.01995	ACG|TAC	DOCK4	-	NULL	ENSG00000128512		0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4		0.00	51	0	G	NM_014705		111509684	-1			no_errors	ENST00000428084	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.935	T
EID2	163126	genome.wustl.edu	37	19	40030187	40030187	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:40030187C>T	ENST00000390658.2	-	1	683	c.533G>A	c.(532-534)cGc>cAc	p.R178H		NM_153232.3	NP_694964.3			EP300 interacting inhibitor of differentiation 2											large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GAATCGCCTGCGGCGTTCTTC	0.498																																																	0													105.0	109.0	108.0					19																	40030187		1929	4156	6085	SO:0001583	missense	0			BC030137	CCDS12540.2	19q13.2	2008-10-24	2006-10-12	2006-10-12	ENSG00000176396	ENSG00000176396			28292	protein-coding gene	gene with protein product		609773	"""CREBBP/EP300 inhibitory protein 2"", ""CREBBP/EP300 inhibitor 2"""	CRI2		14585496	Standard	NM_153232		Approved	EID-2, MGC20452	uc002oma.3	Q8N6I1	OTTHUMG00000074073	ENST00000390658.2:c.533G>A	19.37:g.40030187C>T	ENSP00000375073:p.Arg178His			Missense_Mutation	SNP	NULL	p.R178H	ENST00000390658.2	37	c.533	CCDS12540.2	19	.	.	.	.	.	.	.	.	.	.	.	27.7	4.851905	0.91355	.	.	ENSG00000176396	ENST00000390658;ENST00000539700	T	0.37411	1.2	3.59	3.59	0.41128	.	0.171732	0.28349	N	0.015667	T	0.52108	0.1714	L	0.59436	1.845	0.30251	N	0.794101	D	0.89917	1.0	D	0.73708	0.981	T	0.51772	-0.8663	10	0.62326	D	0.03	.	11.0732	0.48016	0.0:1.0:0.0:0.0	.	178	Q8N6I1	EID2_HUMAN	H	178;129	ENSP00000375073:R178H	ENSP00000375073:R178H	R	-	2	0	EID2	44722027	0.998000	0.40836	0.995000	0.50966	0.998000	0.95712	2.366000	0.44204	2.323000	0.78572	0.544000	0.68410	CGC	EID2	-	NULL	ENSG00000176396		0.498	EID2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	EID2	HGNC	protein_coding	OTTHUMT00000157251.1	-	0.00	65	0	C	NM_153232		40030187	-1	tier1	-	no_errors	ENST00000390658	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.996	T
ELAC2	60528	genome.wustl.edu	37	17	12898129	12898129	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:12898129C>G	ENST00000338034.4	-	21	2220	c.1981G>C	c.(1981-1983)Gtg>Ctg	p.V661L	ELAC2_ENST00000395962.2_Missense_Mutation_p.V642L|ELAC2_ENST00000426905.3_Missense_Mutation_p.V621L	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	661					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GAATAGACCACTTTCCAGCCA	0.602																																																	0													52.0	54.0	53.0					17																	12898129		2203	4300	6503	SO:0001583	missense	0			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1981G>C	17.37:g.12898129C>G	ENSP00000337445:p.Val661Leu		B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	pfam_Beta-lactamas-like	p.V661L	ENST00000338034.4	37	c.1981	CCDS11164.1	17	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519003	0.27211	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.78481	-1.18;-1.18;-1.18	5.35	2.11	0.27256	Beta-lactamase-like (1);	0.291939	0.34338	N	0.004053	T	0.46092	0.1375	N	0.03967	-0.31	0.36960	D	0.893303	B;B;B;B;B;B;B;B	0.12630	0.003;0.001;0.002;0.001;0.006;0.001;0.002;0.001	B;B;B;B;B;B;B;B	0.15870	0.014;0.013;0.006;0.013;0.014;0.01;0.009;0.008	T	0.25745	-1.0123	10	0.10377	T	0.69	-18.944	3.3341	0.07094	0.1695:0.4098:0.3278:0.0929	.	621;644;642;459;661;421;646;289	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	L	621;661;642	ENSP00000405223:V621L;ENSP00000337445:V661L;ENSP00000379291:V642L	ENSP00000337445:V661L	V	-	1	0	ELAC2	12838854	0.206000	0.23470	0.803000	0.32268	0.788000	0.44548	0.227000	0.17795	0.814000	0.34374	0.655000	0.94253	GTG	ELAC2	-	pfam_Beta-lactamas-like	ENSG00000006744		0.602	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC2	HGNC	protein_coding	OTTHUMT00000129934.5	-	0.00	23	0	C			12898129	-1	tier1	-	no_errors	ENST00000338034	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.541	G
ELOVL1	64834	genome.wustl.edu	37	1	43830658	43830658	+	Missense_Mutation	SNP	T	T	A	rs112685758		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:43830658T>A	ENST00000372458.3	-	4	376	c.259A>T	c.(259-261)Agc>Tgc	p.S87C	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Intron	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	87					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTATAGGTGCTCAGCCAGCCC	0.567																																																	0													44.0	42.0	43.0					1																	43830658		2203	4300	6503	SO:0001583	missense	0			AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"""				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.259A>T	1.37:g.43830658T>A	ENSP00000361536:p.Ser87Cys		B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.S87C	ENST00000372458.3	37	c.259	CCDS485.1	1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274382	0.59649	.	.	ENSG00000066322	ENST00000372458	T	0.24350	1.86	5.77	4.65	0.58169	.	0.080797	0.85682	D	0.000000	T	0.37652	0.1011	L	0.49778	1.585	0.80722	D	1	D	0.55800	0.973	P	0.59115	0.852	T	0.04885	-1.0920	10	0.38643	T	0.18	1.5006	11.2159	0.48825	0.0:0.0712:0.0:0.9288	.	87	Q9BW60	ELOV1_HUMAN	C	87	ENSP00000361536:S87C	ENSP00000361536:S87C	S	-	1	0	ELOVL1	43603245	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.934000	0.70138	2.199000	0.70637	0.533000	0.62120	AGC	ELOVL1	-	pfam_GNS1_SUR4	ENSG00000066322		0.567	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL1	HGNC	protein_coding	OTTHUMT00000019496.1	-	0.00	27	0	T	NM_022821		43830658	-1	tier1	-	no_errors	ENST00000372458	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	A
LOC102723968	102723968	genome.wustl.edu	37	13	64415472	64415472	+	lincRNA	SNP	C	C	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr13:64415472C>A	ENST00000607822.1	-	0	412																											AAACCCATGGCAGCGGGGCGA	0.692																																																	0																																												0																															13.37:g.64415472C>A				RNA	SNP	-	NULL	ENST00000607822.1	37	NULL		13																																																																																			RP11-394A14.2	-	-	ENSG00000219926		0.692	RP11-394A14.2-002	KNOWN	basic	lincRNA	ENSG00000219926	Clone_based_vega_gene	lincRNA	OTTHUMT00000471084.1	-	0.00	14	0	C			64415472	-1	tier1	-	no_errors	ENST00000607822	ensembl	human	known	74_37	rna	66.67	4	8	SNP	0.011	A
LINC01205	401082	genome.wustl.edu	37	3	109136698	109136698	+	lincRNA	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr3:109136698C>T	ENST00000497996.1	+	0	337																											ccCACCCATTCAAGTCCACat	0.483																																																	0													121.0	109.0	112.0					3																	109136698		692	1591	2283			0																															3.37:g.109136698C>T				RNA	SNP	-	NULL	ENST00000497996.1	37	NULL		3																																																																																			RP11-702L6.4	-	-	ENSG00000228980		0.483	RP11-702L6.4-002	KNOWN	basic	lincRNA	ENSG00000228980	Clone_based_vega_gene	lincRNA	OTTHUMT00000353892.1		0.00	50	0	C			109136698	+1			no_errors	ENST00000489670	ensembl	human	known	74_37	rna	8.93	51	5	SNP	0.026	T
CTD-2090I13.1	0	genome.wustl.edu	37	1	227618722	227618722	+	lincRNA	DEL	A	A	-			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:227618722delA	ENST00000445817.1	+	0	1957																											TTTATATACCAAAAAAAAAAA	0.433																																																	0																																												0																															1.37:g.227618722delA				RNA	DEL	-	NULL	ENST00000445817.1	37	NULL		1																																																																																			CTD-2090I13.1	-	-	ENSG00000234277		0.433	CTD-2090I13.1-001	KNOWN	basic	lincRNA	ENSG00000234277	Clone_based_vega_gene	lincRNA	OTTHUMT00000091688.1		0.00	12	0	A			227618722	+1	tier1		no_errors	ENST00000445817	ensembl	human	known	74_37	rna	25.00	9	3	DEL	0.163	-
RP11-466L17.1	0	genome.wustl.edu	37	1	56197233	56197233	+	lincRNA	SNP	T	T	C			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:56197233T>C	ENST00000422374.1	+	0	621																											cttgactgctttttgcttctg	0.443																																																	0													6.0	7.0	6.0					1																	56197233		689	1586	2275			0																															1.37:g.56197233T>C				RNA	SNP	-	NULL	ENST00000422374.1	37	NULL		1																																																																																			RP11-466L17.1	-	-	ENSG00000234810		0.443	RP11-466L17.1-001	KNOWN	basic	lincRNA	ENSG00000234810	Clone_based_vega_gene	lincRNA	OTTHUMT00000022603.1	-	0.00	12	0	T			56197233	+1	tier1	-	no_errors	ENST00000422374	ensembl	human	known	74_37	rna	30.77	18	8	SNP	0.023	C
EPHA5	2044	genome.wustl.edu	37	4	66213881	66213881	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr4:66213881A>C	ENST00000273854.3	-	15	3149	c.2549T>G	c.(2548-2550)aTa>aGa	p.I850R	EPHA5_ENST00000511294.1_Missense_Mutation_p.I851R|EPHA5_ENST00000354839.4_Missense_Mutation_p.I828R|EPHA5_ENST00000432638.2_Missense_Mutation_p.I687R	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	850	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCGGAAAGCTATTGCTTCTGG	0.413										TSP Lung(17;0.13)																																							0													136.0	133.0	134.0					4																	66213881		2203	4300	6503	SO:0001583	missense	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2549T>G	4.37:g.66213881A>C	ENSP00000273854:p.Ile850Arg		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I850R	ENST00000273854.3	37	c.2549	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656087	0.88056	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.86	5.86	0.93980	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.94202	0.8139	M	0.93106	3.38	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.997;1.0	D;D;D;D	0.97110	0.976;1.0;0.959;1.0	D	0.95395	0.8485	10	0.87932	D	0	.	16.2507	0.82485	1.0:0.0:0.0:0.0	.	829;851;828;850	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	R	850;687;828;851	ENSP00000273854:I850R;ENSP00000389208:I687R;ENSP00000346899:I828R;ENSP00000427638:I851R	ENSP00000273854:I850R	I	-	2	0	EPHA5	65896476	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.339000	0.96797	2.237000	0.73441	0.528000	0.53228	ATA	EPHA5	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000145242		0.413	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0.00	54	0	A	NM_004439		66213881	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	C
F2	2147	genome.wustl.edu	37	11	46751011	46751011	+	Silent	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:46751011G>A	ENST00000311907.5	+	12	1610	c.1554G>A	c.(1552-1554)ggG>ggA	p.G518G	F2_ENST00000530231.1_Silent_p.G479G	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	518	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TTGGTAAGGGGCAGCCCAGTG	0.607																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0													115.0	96.0	102.0					11																	46751011		2201	4299	6500	SO:0001819	synonymous_variant	0			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1554G>A	11.37:g.46751011G>A			B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Silent	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.G518	ENST00000311907.5	37	c.1554	CCDS31476.1	11																																																																																			F2	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1	ENSG00000180210		0.607	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	HGNC	protein_coding	OTTHUMT00000317706.1	-	0.00	37	0	G			46751011	+1	tier1	-	no_errors	ENST00000311907	ensembl	human	known	74_37	silent	43.86	32	25	SNP	0.037	A
FAF1	11124	genome.wustl.edu	37	1	50941345	50941345	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:50941345G>A	ENST00000396153.2	-	18	2111	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	FAF1_ENST00000371778.4_Missense_Mutation_p.R554W|FAF1_ENST00000545823.1_Missense_Mutation_p.R312W	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	554					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AAGGACAGCCGGATGGCCTAG	0.522																																																	0													29.0	28.0	28.0					1																	50941345		2203	4300	6503	SO:0001583	missense	0			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1660C>T	1.37:g.50941345G>A	ENSP00000379457:p.Arg554Trp		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.R554W	ENST00000396153.2	37	c.1660	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478278	0.63849	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.41	2.34	0.29019	.	0.000000	0.85682	D	0.000000	T	0.76863	0.4047	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.928	T	0.78807	-0.2059	9	0.72032	D	0.01	-16.8176	15.1172	0.72413	0.0:0.0:0.4005:0.5995	.	312;554	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	W	554;554;312;394;402	.	ENSP00000360843:R554W	R	-	1	2	FAF1	50713933	1.000000	0.71417	0.989000	0.46669	0.900000	0.52787	1.709000	0.37909	0.180000	0.19960	-0.181000	0.13052	CGG	FAF1	-	NULL	ENSG00000185104		0.522	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1		0.00	39	0	G	NM_007051		50941345	-1			no_errors	ENST00000371778	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
FAM135A	57579	genome.wustl.edu	37	6	71236246	71236246	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr6:71236246G>T	ENST00000418814.2	+	15	4073	c.3459G>T	c.(3457-3459)ttG>ttT	p.L1153F	FAM135A_ENST00000505769.1_Missense_Mutation_p.L733F|FAM135A_ENST00000370479.3_Missense_Mutation_p.L940F|FAM135A_ENST00000505868.1_Missense_Mutation_p.L1153F|FAM135A_ENST00000457062.2_Missense_Mutation_p.L940F|FAM135A_ENST00000361499.3_Missense_Mutation_p.L957F	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1153										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						CTGGTTGTTTGTCCTTCCCGT	0.368																																																	0													182.0	186.0	185.0					6																	71236246		2203	4300	6503	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.3459G>T	6.37:g.71236246G>T	ENSP00000410768:p.Leu1153Phe		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.L1153F	ENST00000418814.2	37	c.3459	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175848	0.57692	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.32515	1.75;1.73;1.45;1.73;1.72;1.72	5.96	3.18	0.36537	.	0.091944	0.45606	D	0.000342	T	0.33904	0.0879	L	0.58101	1.795	0.36738	D	0.882055	D;D;D;D	0.89917	0.999;0.997;1.0;1.0	D;D;D;D	0.87578	0.977;0.952;0.998;0.996	T	0.27020	-1.0086	10	0.87932	D	0	.	7.1462	0.25585	0.141:0.0:0.7206:0.1384	.	1153;1153;957;940	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	F	1153;940;733;940;957;1153	ENSP00000410768:L1153F;ENSP00000359510:L940F;ENSP00000423785:L733F;ENSP00000409201:L940F;ENSP00000354913:L957F;ENSP00000423307:L1153F	ENSP00000354913:L957F	L	+	3	2	FAM135A	71292967	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	2.436000	0.44819	0.390000	0.25115	-0.140000	0.14226	TTG	FAM135A	-	NULL	ENSG00000082269		0.368	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2		0.00	44	0	G	NM_020819		71236246	+1			no_errors	ENST00000418814	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
LOC101929008	101929008	genome.wustl.edu	37	16	90173100	90173100	+	lincRNA	SNP	C	C	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:90173100C>A	ENST00000562203.1	-	0	0																											GTCCCCGAGGCTGCCCGAGGA	0.582																																																	0																																												0																															16.37:g.90173100C>A				RNA	SNP	-	NULL	ENST00000562203.1	37	NULL		16																																																																																			FAM157C	-	-	ENSG00000260528		0.582	RP11-356C4.3-001	KNOWN	basic	lincRNA	FAM157C	HGNC	lincRNA	OTTHUMT00000420874.1	-	0.00	110	0	C			90173100	+1	tier1	-	no_errors	ENST00000563357	ensembl	human	known	74_37	rna	17.91	110	24	SNP	0.023	A
FAM214B	80256	genome.wustl.edu	37	9	35106349	35106349	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr9:35106349T>A	ENST00000378561.1	-	5	4173	c.1118A>T	c.(1117-1119)gAa>gTa	p.E373V	FAM214B_ENST00000378557.1_Missense_Mutation_p.E373V|FAM214B_ENST00000378554.2_Missense_Mutation_p.E373V|FAM214B_ENST00000322813.5_Missense_Mutation_p.E373V|FAM214B_ENST00000378566.1_Missense_Mutation_p.E68V|FAM214B_ENST00000603301.1_Missense_Mutation_p.E373V|FAM214B_ENST00000605244.1_Missense_Mutation_p.E373V|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000488109.2_Missense_Mutation_p.E373V			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	373						nucleus (GO:0005634)											AGCTCCAATTTCTGCTGTGAA	0.522																																																	0													102.0	92.0	95.0					9																	35106349		2203	4300	6503	SO:0001583	missense	0			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.1118A>T	9.37:g.35106349T>A	ENSP00000367823:p.Glu373Val		B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	NULL	p.E373V	ENST00000378561.1	37	c.1118	CCDS6578.1	9	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993416	0.74703	.	.	ENSG00000005238	ENST00000378566;ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.76392	0.3981	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77078	-0.2721	9	0.49607	T	0.09	-19.6286	15.2318	0.73395	0.0:0.0:0.0:1.0	.	373	Q7L5A3	K1539_HUMAN	V	68;373;373;373;373	.	ENSP00000319897:E373V	E	-	2	0	KIAA1539	35096349	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.446000	0.80609	2.269000	0.75478	0.533000	0.62120	GAA	FAM214B	-	NULL	ENSG00000005238		0.522	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	HGNC	protein_coding	OTTHUMT00000052261.1		0.00	42	0	T	NM_025182		35106349	-1			no_errors	ENST00000322813	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A
PIEZO1	9780	genome.wustl.edu	37	16	88809254	88809254	+	Intron	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:88809254C>T	ENST00000301015.9	-	3	407				RP5-1142A6.8_ENST00000333666.1_RNA|RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.8_ENST00000567588.1_RNA|RP5-1142A6.7_ENST00000566114.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GCATGCGGAGCGCCCCTGAGC	0.632																																																	0																																										SO:0001627	intron_variant	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.161-424G>A	16.37:g.88809254C>T			A6NHT9|A7E2B7|Q0KKZ9	RNA	SNP	-	NULL	ENST00000301015.9	37	NULL	CCDS54058.1	16																																																																																			RP5-1142A6.8	-	-	ENSG00000182376		0.632	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	FLJ40448	Clone_based_vega_gene	protein_coding	OTTHUMT00000345699.4	-	0.00	14	0	C	NM_014745		88809254	+1	tier1	-	no_errors	ENST00000333666	ensembl	human	known	74_37	rna	28.57	10	4	SNP	0.008	T
FPGT-TNNI3K	100526835	genome.wustl.edu	37	1	74819776	74819776	+	Silent	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:74819776A>G	ENST00000370899.3	+	13	1480	c.1443A>G	c.(1441-1443)aaA>aaG	p.K481K	TNNI3K_ENST00000370891.2_Silent_p.K481K|FPGT-TNNI3K_ENST00000370895.1_Silent_p.K481K|FPGT-TNNI3K_ENST00000557284.2_Silent_p.K494K|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Silent_p.K380K	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.D381fs*6(1)									GTGGTGAAAAAGATGAGCAGA	0.408																																																	1	Deletion - Frameshift(1)	large_intestine(1)											160.0	149.0	152.0					1																	74819776		2203	4300	6503	SO:0001819	synonymous_variant	0					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1443A>G	1.37:g.74819776A>G				Silent	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K494	ENST00000370899.3	37	c.1482		1																																																																																			FPGT-TNNI3K	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000259030		0.408	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3		0.00	60	0	A			74819776	+1			no_errors	ENST00000557284	ensembl	human	known	74_37	silent	6.67	42	3	SNP	0.999	G
FRMPD3	84443	genome.wustl.edu	37	X	106803587	106803587	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chrX:106803587C>T	ENST00000276185.4	+	10	962	c.962C>T	c.(961-963)aCt>aTt	p.T321I				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	321	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GTCTCAGCCACTCGACCTAGT	0.522																																																	0													68.0	60.0	63.0					X																	106803587		876	1991	2867	SO:0001583	missense	0			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.962C>T	X.37:g.106803587C>T	ENSP00000276185:p.Thr321Ile		Q96JK8	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.T321I	ENST00000276185.4	37	c.962		X	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427257	0.83667	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.77750	-1.12;-1.12	5.16	5.16	0.70880	.	0.193310	0.45361	D	0.000369	T	0.78559	0.4302	L	0.40543	1.245	0.23559	N	0.997419	.	.	.	.	.	.	T	0.73959	-0.3818	8	0.62326	D	0.03	.	16.676	0.85279	0.0:1.0:0.0:0.0	.	.	.	.	I	321;269	ENSP00000276185:T321I;ENSP00000398668:T269I	ENSP00000276185:T321I	T	+	2	0	FRMPD3	106690243	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.441000	0.80485	2.142000	0.66516	0.529000	0.55759	ACT	FRMPD3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000147234		0.522	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		-	0.00	15	0	C	XM_042978		106803587	+1	tier1	-	no_errors	ENST00000276185	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.478	T
FUZ	80199	genome.wustl.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635																																																	0																																										SO:0001651	inframe_deletion	0			BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1180_1182delCTG	19.37:g.50310492_50310494delCAG	ENSP00000313309:p.Leu394del		B2RD86|B5MDH0|Q6PJY0|Q9H613	In_Frame_Del	DEL	NULL	p.L394in_frame_del	ENST00000313777.4	37	c.1182_1180	CCDS12781.1	19																																																																																			FUZ	-	NULL	ENSG00000010361		0.635	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUZ	HGNC	protein_coding	OTTHUMT00000393986.1		0.00	44	0	CAG	NM_025129		50310485	-1	tier1		no_errors	ENST00000313777	ensembl	human	known	74_37	in_frame_del	10.00	45	5	DEL	0.279:0.838:0.863	-
GAS2L2	246176	genome.wustl.edu	37	17	34074204	34074204	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:34074204G>T	ENST00000254466.6	-	5	943	c.916C>A	c.(916-918)Cag>Aag	p.Q306K	GAS2L2_ENST00000587565.1_Missense_Mutation_p.Q290K	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	306					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTGTAGGCTGGGTCTGTGAG	0.612																																																	0													134.0	140.0	138.0					17																	34074204		2203	4300	6503	SO:0001583	missense	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.916C>A	17.37:g.34074204G>T	ENSP00000254466:p.Gln306Lys		Q8NHY4	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.Q306K	ENST00000254466.6	37	c.916	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959533	0.53400	.	.	ENSG00000132139	ENST00000254466	T	0.18502	2.21	4.83	4.83	0.62350	.	0.327598	0.27331	N	0.019857	T	0.34193	0.0889	L	0.59436	1.845	0.33577	D	0.599319	D	0.67145	0.996	D	0.63381	0.914	T	0.37776	-0.9691	10	0.35671	T	0.21	-8.0308	14.7861	0.69806	0.0:0.0:1.0:0.0	.	306	Q8NHY3	GA2L2_HUMAN	K	306	ENSP00000254466:Q306K	ENSP00000254466:Q306K	Q	-	1	0	GAS2L2	31098317	1.000000	0.71417	0.778000	0.31720	0.569000	0.35902	5.647000	0.67923	2.514000	0.84764	0.561000	0.74099	CAG	GAS2L2	-	NULL	ENSG00000132139		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	-	0.00	74	0	G	NM_139285		34074204	-1	tier1	-	no_errors	ENST00000254466	ensembl	human	known	74_37	missense	20.00	56	14	SNP	0.848	T
GCN1L1	10985	genome.wustl.edu	37	12	120569744	120569744	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:120569744T>C	ENST00000300648.6	-	54	7412	c.7400A>G	c.(7399-7401)cAg>cGg	p.Q2467R		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2467					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGCACTGCTGTAGAACGGC	0.582																																																	0													57.0	58.0	58.0					12																	120569744		1991	4172	6163	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7400A>G	12.37:g.120569744T>C	ENSP00000300648:p.Gln2467Arg		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.Q2467R	ENST00000300648.6	37	c.7400	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	T	2.626	-0.287520	0.05605	.	.	ENSG00000089154	ENST00000300648	T	0.32023	1.47	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.169882	0.43260	D	0.000597	T	0.19046	0.0457	N	0.17723	0.515	0.46011	D	0.998811	B	0.09022	0.002	B	0.04013	0.001	T	0.05566	-1.0877	10	0.13853	T	0.58	-19.1262	13.7063	0.62641	0.0:0.0:0.0:1.0	.	2467	Q92616	GCN1L_HUMAN	R	2467	ENSP00000300648:Q2467R	ENSP00000300648:Q2467R	Q	-	2	0	GCN1L1	119054127	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.440000	0.66563	1.889000	0.54706	0.533000	0.62120	CAG	GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	-	0.00	39	0	T			120569744	-1	tier1	-	no_errors	ENST00000300648	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	C
GDF2	2658	genome.wustl.edu	37	10	48413931	48413931	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:48413931T>A	ENST00000249598.1	-	2	1096	c.937A>T	c.(937-939)Act>Tct	p.T313S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	313					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|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)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CTGGCTAAAGTCGACCCCGCA	0.612																																																	0													57.0	54.0	55.0					10																	48413931		2203	4300	6503	SO:0001583	missense	0			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.937A>T	10.37:g.48413931T>A	ENSP00000249598:p.Thr313Ser		Q5VSQ9|Q9Y571	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.T313S	ENST00000249598.1	37	c.937	CCDS7219.1	10	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.863253	0.00552	.	.	ENSG00000128802	ENST00000249598	T	0.77358	-1.09	5.46	1.73	0.24493	.	0.976806	0.08489	N	0.938291	T	0.35653	0.0939	N	0.00246	-1.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39702	-0.9601	10	0.06625	T	0.88	.	2.6437	0.04978	0.5034:0.2763:0.0765:0.1439	.	313	Q9UK05	GDF2_HUMAN	S	313	ENSP00000249598:T313S	ENSP00000249598:T313S	T	-	1	0	GDF2	48033937	0.108000	0.22018	0.000000	0.03702	0.018000	0.09664	-0.260000	0.08708	0.040000	0.15660	-0.691000	0.03719	ACT	GDF2	-	NULL	ENSG00000128802		0.612	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	HGNC	protein_coding	OTTHUMT00000047891.1	-	0.00	56	0	T	NM_016204		48413931	-1	tier1	-	no_errors	ENST00000249598	ensembl	human	known	74_37	missense	27.08	35	13	SNP	0.000	A
GLI3	2737	genome.wustl.edu	37	7	42004063	42004063	+	Silent	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:42004063G>A	ENST00000395925.3	-	15	4692	c.4608C>T	c.(4606-4608)tcC>tcT	p.S1536S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1536					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)	p.S1536S(1)		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						TGGTGAGGCGGGAGGAGCTAT	0.582									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								1	Substitution - coding silent(1)	large_intestine(1)											100.0	96.0	98.0					7																	42004063		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4608C>T	7.37:g.42004063G>A			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1536	ENST00000395925.3	37	c.4608	CCDS5465.1	7																																																																																			GLI3	-	NULL	ENSG00000106571		0.582	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0.00	63	0	G	NM_000168		42004063	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	silent	34.25	48	25	SNP	0.995	A
GLT1D1	144423	genome.wustl.edu	37	12	129373274	129373274	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:129373274T>G	ENST00000442111.2	+	3	396	c.308T>G	c.(307-309)gTt>gGt	p.V103G	GLT1D1_ENST00000542193.1_Missense_Mutation_p.V4G|GLT1D1_ENST00000281703.6_Missense_Mutation_p.V103G|GLT1D1_ENST00000537468.1_Missense_Mutation_p.V92G			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	103					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		ATGGGCAGAGTTCTTGAGGAA	0.438																																																	0													92.0	82.0	86.0					12																	129373274		2203	4300	6503	SO:0001583	missense	0				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.308T>G	12.37:g.129373274T>G	ENSP00000394692:p.Val103Gly		Q86XG8	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.V103G	ENST00000442111.2	37	c.308		12	.	.	.	.	.	.	.	.	.	.	T	14.20	2.465047	0.43839	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	T;T;T;T	0.79141	-1.24;0.49;-1.24;0.35	5.4	5.4	0.78164	.	0.064020	0.64402	D	0.000009	D	0.85575	0.5728	M	0.73598	2.24	0.58432	D	0.999998	D;D	0.76494	0.987;0.999	P;D	0.64410	0.809;0.925	D	0.83855	0.0265	10	0.23891	T	0.37	-34.3782	14.6068	0.68486	0.0:0.0:0.0:1.0	.	92;103	F5H088;Q96MS3-2	.;.	G	103;103;92;4	ENSP00000394692:V103G;ENSP00000281703:V103G;ENSP00000438158:V92G;ENSP00000437500:V4G	ENSP00000281703:V103G	V	+	2	0	GLT1D1	127939227	1.000000	0.71417	0.264000	0.24511	0.149000	0.21700	4.902000	0.63266	2.039000	0.60335	0.528000	0.53228	GTT	GLT1D1	-	NULL	ENSG00000151948		0.438	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	HGNC	protein_coding	OTTHUMT00000399740.1		0.00	56	0	T	NM_144669		129373274	+1			no_errors	ENST00000442111	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.980	G
GON4L	54856	genome.wustl.edu	37	1	155785777	155785777	+	Intron	DEL	A	A	-			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:155785777delA	ENST00000368331.1	-	8	1114				GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Intron|GON4L_ENST00000271883.5_Intron|GON4L_ENST00000361040.5_Intron	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCAGGGCAGAAAAAAAAAAA	0.348																																																	0																																										SO:0001627	intron_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1066-86T>-	1.37:g.155785777delA			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	RNA	DEL	-	NULL	ENST00000368331.1	37	NULL		1																																																																																			GON4L	-	-	ENSG00000116580		0.348	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding			0.00	18	0	A	NM_032292		155785777	-1	tier1		no_errors	ENST00000471341	ensembl	human	known	74_37	rna	28.57	10	4	DEL	0.000	-
GPM6A	2823	genome.wustl.edu	37	4	176555905	176555905	+	3'UTR	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr4:176555905C>T	ENST00000280187.7	-	0	1033				GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000515090.1_3'UTR|GPM6A_ENST00000506894.1_3'UTR|GPM6A_ENST00000393658.2_3'UTR	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A						neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		AAGTGCTAAACAACAAAGAAT	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.*151G>A	4.37:g.176555905C>T			B7Z642|E9PHI5|Q92602	RNA	SNP	-	NULL	ENST00000280187.7	37	NULL	CCDS3824.1	4																																																																																			GPM6A	-	-	ENSG00000150625		0.323	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPM6A	HGNC	protein_coding	OTTHUMT00000362163.1	-	0.00	78	0	C			176555905	-1	tier1	-	no_errors	ENST00000506219	ensembl	human	known	74_37	rna	12.07	51	7	SNP	0.992	T
GPR98	84059	genome.wustl.edu	37	5	90024645	90024645	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr5:90024645G>T	ENST00000405460.2	+	49	10417	c.10321G>T	c.(10321-10323)Ggg>Tgg	p.G3441W		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3441					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCTGGCAGTGGGTTTATTAA	0.453																																																	0													84.0	82.0	82.0					5																	90024645		1897	4107	6004	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10321G>T	5.37:g.90024645G>T	ENSP00000384582:p.Gly3441Trp		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G3441W	ENST00000405460.2	37	c.10321	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	8.969	0.972520	0.18736	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27720	1.65	5.6	2.79	0.32731	.	0.690281	0.15233	N	0.273314	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	P;P	0.49358	0.761;0.923	B;B	0.42343	0.174;0.384	T	0.07404	-1.0774	10	0.66056	D	0.02	.	5.9129	0.19039	0.2142:0.2675:0.5183:0.0	.	3441;3441	E7ETI5;Q8WXG9	.;GPR98_HUMAN	W	3441	ENSP00000384582:G3441W	ENSP00000296619:G3441W	G	+	1	0	GPR98	90060401	0.075000	0.21258	0.000000	0.03702	0.022000	0.10575	1.043000	0.30316	0.291000	0.22468	0.655000	0.94253	GGG	GPR98	-	pfscan_EAR	ENSG00000164199		0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0.00	97	0	G	NM_032119		90024645	+1			no_errors	ENST00000405460	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.001	T
HDAC4	9759	genome.wustl.edu	37	2	239990219	239990219	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr2:239990219delG	ENST00000345617.3	-	23	3611	c.2820delC	c.(2818-2820)cccfs	p.P940fs	AC017028.2_ENST00000578555.1_RNA|AC017028.5_ENST00000582834.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.4_ENST00000577359.1_RNA|AC017028.10_ENST00000579161.1_RNA|AC017028.9_ENST00000581111.1_RNA|AC017028.3_ENST00000584260.1_RNA|HDAC4_ENST00000543185.1_Frame_Shift_Del_p.P524fs|AC017028.6_ENST00000577291.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	940	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CAAGAGGGGTGGGGTGGCCCT	0.602																																																	0													74.0	72.0	73.0					2																	239990219		2203	4300	6503	SO:0001589	frameshift_variant	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2820delC	2.37:g.239990219delG	ENSP00000264606:p.Pro940fs		Q9UND6	Frame_Shift_Del	DEL	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.T941fs	ENST00000345617.3	37	c.2820	CCDS2529.1	2																																																																																			HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.602	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2		0.00	29	0	G	NM_006037		239990219	-1	tier1		no_errors	ENST00000345617	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	0.986	-
HDAC9	9734	genome.wustl.edu	37	7	18674352	18674352	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:18674352C>T	ENST00000432645.2	+	7	890	c.890C>T	c.(889-891)aCc>aTc	p.T297I	HDAC9_ENST00000524023.1_Missense_Mutation_p.T220I|HDAC9_ENST00000417496.2_Missense_Mutation_p.T295I|HDAC9_ENST00000406072.1_Missense_Mutation_p.T284I|HDAC9_ENST00000441542.2_Missense_Mutation_p.T300I|HDAC9_ENST00000405010.3_Missense_Mutation_p.T297I|HDAC9_ENST00000428307.2_Missense_Mutation_p.T253I|HDAC9_ENST00000401921.1_Missense_Mutation_p.T256I|HDAC9_ENST00000456174.2_Missense_Mutation_p.T269I|HDAC9_ENST00000406451.4_Missense_Mutation_p.T297I	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	297	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTGCCCCCTACCCCTCATGCC	0.423																																																	0													73.0	72.0	73.0					7																	18674352		1859	4093	5952	SO:0001583	missense	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.890C>T	7.37:g.18674352C>T	ENSP00000410337:p.Thr297Ile		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.T300I	ENST00000432645.2	37	c.899	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743237	0.30865	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.57907	0.91;0.95;0.39;0.91;0.91;0.37;0.39;0.39;0.96;0.91	5.71	5.71	0.89125	.	0.222920	0.31221	N	0.008030	T	0.43077	0.1231	N	0.12182	0.205	0.41971	D	0.990758	B;P;P;P;B;P;B;P;B;B;B;B;P;P	0.51351	0.435;0.716;0.571;0.704;0.435;0.944;0.201;0.902;0.302;0.242;0.201;0.302;0.813;0.704	B;B;B;B;B;P;B;P;B;B;B;B;B;B	0.53146	0.077;0.146;0.238;0.152;0.12;0.719;0.069;0.498;0.117;0.157;0.069;0.117;0.281;0.302	T	0.27571	-1.0070	10	0.24483	T	0.36	-20.6911	9.6224	0.39730	0.2984:0.5816:0.12:0.0	.	220;269;297;284;295;297;300;256;300;297;269;297;297;275	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	I	295;298;297;297;253;284;256;297;300;269;220;297	ENSP00000401669:T295I;ENSP00000384382:T297I;ENSP00000384657:T297I;ENSP00000395655:T253I;ENSP00000384017:T284I;ENSP00000383912:T256I;ENSP00000410337:T297I;ENSP00000408617:T300I;ENSP00000388568:T269I;ENSP00000430036:T220I	ENSP00000262069:T298I	T	+	2	0	HDAC9	18640877	0.998000	0.40836	0.998000	0.56505	0.322000	0.28314	1.726000	0.38085	2.706000	0.92434	0.650000	0.86243	ACC	HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.423	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0.00	124	0	C			18674352	+1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	missense	18.40	102	23	SNP	1.000	T
HIST2H2BF	440689	genome.wustl.edu	37	1	149783891	149783891	+	5'UTR	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:149783891A>G	ENST00000369167.1	-	0	23				HIST2H2BF_ENST00000545683.1_5'UTR|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_5'UTR|HIST2H2BF_ENST00000469483.1_5'UTR	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf						chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TTGCGCGAAAAAAGAGAAAAG	0.483																																																	0													52.0	57.0	55.0					1																	149783891		2202	4299	6501	SO:0001623	5_prime_UTR_variant	0			BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.-13T>C	1.37:g.149783891A>G			A8K0U9|B4DLA9	RNA	SNP	-	NULL	ENST00000369167.1	37	NULL	CCDS30846.1	1																																																																																			HIST2H2BF	-	-	ENSG00000203814		0.483	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BF	HGNC	protein_coding	OTTHUMT00000033453.2	-	0.00	95	0	A	NM_001024599		149783891	-1	tier1	-	no_errors	ENST00000469483	ensembl	human	known	74_37	rna	22.35	66	19	SNP	0.000	G
IGF2R	3482	genome.wustl.edu	37	6	160471650	160471650	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr6:160471650C>T	ENST00000356956.1	+	19	2808	c.2660C>T	c.(2659-2661)aCg>aTg	p.T887M		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	887					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACATATACCACGAGGATCCAT	0.582																																																	0													71.0	60.0	63.0					6																	160471650		2203	4300	6503	SO:0001583	missense	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2660C>T	6.37:g.160471650C>T	ENSP00000349437:p.Thr887Met		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.T887M	ENST00000356956.1	37	c.2660	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189552	0.57909	.	.	ENSG00000197081	ENST00000356956	T	0.05382	3.45	5.27	5.27	0.74061	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	M	0.90814	3.15	0.50813	D	0.999893	D	0.89917	1.0	D	0.81914	0.995	T	0.02844	-1.1103	10	0.87932	D	0	-25.2575	13.6552	0.62333	0.0:0.8453:0.1547:0.0	.	887	P11717	MPRI_HUMAN	M	887	ENSP00000349437:T887M	ENSP00000349437:T887M	T	+	2	0	IGF2R	160391640	1.000000	0.71417	0.616000	0.29078	0.302000	0.27658	5.112000	0.64634	2.469000	0.83416	0.491000	0.48974	ACG	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.582	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0.00	56	0	C	NM_000876		160471650	+1	tier1	-	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	26.83	30	11	SNP	0.147	T
IRGC	56269	genome.wustl.edu	37	19	44223370	44223370	+	Silent	SNP	G	G	A	rs369487767		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:44223370G>A	ENST00000244314.5	+	2	859	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	220	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				ACCTCTCGCCGGCCCGCTACG	0.701																																					Colon(189;350 2037 11447 13433 38914)												0								G		0,4402		0,0,2201	24.0	24.0	24.0		660	-10.4	0.0	19		24	1,8595		0,1,4297	no	coding-synonymous	IRGC	NM_019612.3		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		220/464	44223370	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	0			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.660G>A	19.37:g.44223370G>A			Q05BR8	Silent	SNP	pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase	p.P220	ENST00000244314.5	37	c.660	CCDS12629.1	19																																																																																			IRGC	-	pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase	ENSG00000124449		0.701	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGC	HGNC	protein_coding	OTTHUMT00000336191.1	-	0.00	12	0	G	NM_019612		44223370	+1	tier1	-	no_errors	ENST00000244314	ensembl	human	known	74_37	silent	20.00	16	4	SNP	0.000	A
KCNH6	81033	genome.wustl.edu	37	17	61613295	61613295	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:61613295G>A	ENST00000583023.1	+	6	1378	c.1367G>A	c.(1366-1368)gGc>gAc	p.G456D	KCNH6_ENST00000314672.5_Missense_Mutation_p.G456D|KCNH6_ENST00000580652.1_Missense_Mutation_p.G456D|KCNH6_ENST00000581784.1_Intron|KCNH6_ENST00000456941.2_Intron	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	456					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCAGCCTCGGGCCCCTCGGTG	0.622																																																	0													61.0	48.0	52.0					17																	61613295		2203	4300	6503	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1367G>A	17.37:g.61613295G>A	ENSP00000463533:p.Gly456Asp		Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.G456D	ENST00000583023.1	37	c.1367	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031105	0.35797	.	.	ENSG00000173826	ENST00000314672	D	0.97480	-4.4	4.36	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	L	0.59967	1.855	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;0.998	D;D;D;D	0.91635	0.999;0.989;0.989;0.992	D	0.99081	1.0837	10	0.87932	D	0	.	17.0722	0.86577	0.0:0.0:1.0:0.0	.	333;456;456;456	B4DPJ3;B4DKC0;Q9H252;Q9H252-3	.;.;KCNH6_HUMAN;.	D	456	ENSP00000318212:G456D	ENSP00000318212:G456D	G	+	2	0	KCNH6	58967027	1.000000	0.71417	0.978000	0.43139	0.519000	0.34347	9.657000	0.98554	2.244000	0.73946	0.313000	0.20887	GGC	KCNH6	-	pfam_Ion_trans_dom	ENSG00000173826		0.622	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	-	0.00	72	0	G	NM_030779		61613295	+1	tier1	-	no_errors	ENST00000583023	ensembl	human	known	74_37	missense	10.47	77	9	SNP	1.000	A
KCNQ2	3785	genome.wustl.edu	37	20	62045497	62045497	+	Silent	SNP	G	G	A	rs118192230|rs528539094		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:62045497G>A	ENST00000359125.2	-	14	1749	c.1575C>T	c.(1573-1575)tgC>tgT	p.C525C	KCNQ2_ENST00000360480.3_Silent_p.C497C|KCNQ2_ENST00000357249.2_Silent_p.C507C|KCNQ2_ENST00000370224.1_Silent_p.C497C|KCNQ2_ENST00000344462.4_Silent_p.C494C|KCNQ2_ENST00000354587.3_Silent_p.C497C|KCNQ2_ENST00000359689.1_Silent_p.C525C	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	525					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCACAAACTCGCAGGGGCAGC	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14680	0.0		0.0	False		,,,				2504	0.0																0													57.0	62.0	60.0					20																	62045497		2203	4300	6503	SO:0001819	synonymous_variant	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1575C>T	20.37:g.62045497G>A			O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.C497	ENST00000359125.2	37	c.1491	CCDS13520.1	20																																																																																			KCNQ2	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000075043		0.672	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	-	0.00	93	0	G	NM_172109		62045497	-1	tier1	-	no_errors	ENST00000354587	ensembl	human	known	74_37	silent	49.62	67	66	SNP	1.000	A
KIAA0907	22889	genome.wustl.edu	37	1	155891416	155891416	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:155891416T>C	ENST00000368321.3	-	10	1039	c.1016A>G	c.(1015-1017)tAt>tGt	p.Y339C	KIAA0907_ENST00000482337.1_Intron|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Y339C|KIAA0907_ENST00000368319.3_Intron|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	339	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGGTTGTGTATAGCCTGAGGG	0.423																																																	0													105.0	106.0	106.0					1																	155891416		2203	4300	6503	SO:0001583	missense	0			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1016A>G	1.37:g.155891416T>C	ENSP00000357304:p.Tyr339Cys		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	NULL	p.Y339C	ENST00000368321.3	37	c.1016	CCDS30885.1	1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052069	0.55218	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	.	.	.	5.62	5.62	0.85841	.	0.251756	0.40064	N	0.001183	T	0.33673	0.0871	N	0.19112	0.55	0.80722	D	1	D;P	0.54964	0.969;0.924	P;B	0.50490	0.642;0.263	T	0.39418	-0.9615	9	0.59425	D	0.04	-7.8122	10.5507	0.45087	0.1808:0.0:0.0:0.8192	.	339;339	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	C	339	.	ENSP00000357303:Y339C	Y	-	2	0	KIAA0907	154158040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.405000	0.52630	2.136000	0.66102	0.402000	0.26972	TAT	KIAA0907	-	NULL	ENSG00000132680		0.423	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	-	0.00	55	0	T	NM_014949		155891416	-1	tier1	-	no_errors	ENST00000368321	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	C
KIF13A	63971	genome.wustl.edu	37	6	17849622	17849622	+	Silent	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr6:17849622G>T	ENST00000259711.6	-	9	921	c.816C>A	c.(814-816)ggC>ggA	p.G272G	KIF13A_ENST00000378816.5_Silent_p.G272G|KIF13A_ENST00000378843.2_Silent_p.G272G|KIF13A_ENST00000378826.2_Silent_p.G272G|KIF13A_ENST00000378814.5_Silent_p.G272G	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	272	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TAATGTTGCTGCCTTCTTTCA	0.493																																																	0													111.0	103.0	106.0					6																	17849622		1907	4137	6044	SO:0001819	synonymous_variant	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.816C>A	6.37:g.17849622G>T			A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G272	ENST00000259711.6	37	c.816	CCDS47381.1	6																																																																																			KIF13A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000137177		0.493	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	-	0.00	73	0	G			17849622	-1	tier1	-	no_errors	ENST00000259711	ensembl	human	known	74_37	silent	6.45	58	4	SNP	1.000	T
KIF1B	23095	genome.wustl.edu	37	1	10356990	10356990	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:10356990C>A	ENST00000377086.1	+	21	2099	c.1897C>A	c.(1897-1899)Cgc>Agc	p.R633S	KIF1B_ENST00000263934.6_Missense_Mutation_p.R587S|KIF1B_ENST00000377083.1_Missense_Mutation_p.R587S|RNU6-37P_ENST00000362692.1_RNA|KIF1B_ENST00000377093.4_Missense_Mutation_p.R587S|KIF1B_ENST00000377081.1_Missense_Mutation_p.R633S			O60333	KIF1B_HUMAN	kinesin family member 1B	633					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCATGTTTTCCGCTTTAACCA	0.423																																																	0													54.0	58.0	57.0					1																	10356990		2203	4300	6503	SO:0001583	missense	0			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1897C>A	1.37:g.10356990C>A	ENSP00000366290:p.Arg633Ser		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R587S	ENST00000377086.1	37	c.1759		1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775327	0.90108	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	6.03	6.03	0.97812	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.89396	0.6703	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.992;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.989;0.998;0.982;0.975;0.979;0.996	D	0.90235	0.4282	10	0.87932	D	0	.	16.7806	0.85562	0.1294:0.8706:0.0:0.0	.	619;593;633;607;633;587;587	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	S	633;587;587;633;587;633	ENSP00000263934:R587S;ENSP00000366297:R587S;ENSP00000366290:R633S;ENSP00000366287:R587S;ENSP00000366284:R633S	ENSP00000263934:R587S	R	+	1	0	KIF1B	10279577	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.026000	0.64103	2.854000	0.98071	0.655000	0.94253	CGC	KIF1B	-	superfamily_SMAD_FHA_domain	ENSG00000054523		0.423	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	-	0.00	30	0	C			10356990	+1	tier1	-	no_errors	ENST00000263934	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49426055	49426055	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:49426055G>T	ENST00000301067.7	-	39	12432	c.12433C>A	c.(12433-12435)Cct>Act	p.P4145T		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4145	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATGGACCCAGGCTGATCCCCT	0.587																																																	0													52.0	48.0	49.0					12																	49426055		1985	4172	6157	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12433C>A	12.37:g.49426055G>T	ENSP00000301067:p.Pro4145Thr		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P4145T	ENST00000301067.7	37	c.12433	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	0.366	-0.936502	0.02340	.	.	ENSG00000167548	ENST00000301067	T	0.78364	-1.17	4.74	2.86	0.33363	.	0.000000	0.36374	N	0.002630	T	0.57095	0.2030	N	0.08118	0	0.33016	D	0.52825	B	0.17038	0.02	B	0.12837	0.008	T	0.60682	-0.7215	10	0.87932	D	0	.	8.9154	0.35579	0.0814:0.0:0.7696:0.149	.	4145	O14686	MLL2_HUMAN	T	4145	ENSP00000301067:P4145T	ENSP00000301067:P4145T	P	-	1	0	MLL2	47712322	1.000000	0.71417	0.996000	0.52242	0.105000	0.19272	2.618000	0.46393	0.664000	0.31047	-0.136000	0.14681	CCT	KMT2D	-	NULL	ENSG00000167548		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0.00	41	0	G			49426055	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
TMEM218	219854	genome.wustl.edu	37	11	124984117	124984117	+	5'Flank	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:124984117G>T	ENST00000279968.4	-	0	0				TMEM218_ENST00000529609.1_5'Flank|TMEM218_ENST00000526175.1_5'Flank|TMEM218_ENST00000527766.1_5'Flank|TMEM218_ENST00000531909.1_5'Flank|TMEM218_ENST00000532407.1_5'Flank|TMEM218_ENST00000532156.1_5'Flank|TMEM218_ENST00000527271.1_5'Flank|TMEM218_ENST00000529583.1_5'Flank|KRT18P59_ENST00000534728.1_RNA|TMEM218_ENST00000531262.1_5'Flank			A2RU14	TM218_HUMAN	transmembrane protein 218							integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						GAAGAACCAAGAGAAGGAAGT	0.507																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS31715.1	11q24.2	2008-08-08			ENSG00000150433	ENSG00000150433			27344	protein-coding gene	gene with protein product							Standard	NM_001258238		Approved		uc031qeu.1	A2RU14			11.37:g.124984117G>T	Exception_encountered		B7ZM48	RNA	SNP	-	NULL	ENST00000279968.4	37	NULL	CCDS31715.1	11																																																																																			KRT18P59	-	-	ENSG00000187686		0.507	TMEM218-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KRT18P59	HGNC	protein_coding	OTTHUMT00000386849.1	-	0.00	32	0	G	NM_001080546		124984117	+1	tier1	-	no_errors	ENST00000534728	ensembl	human	known	74_37	rna	18.75	13	3	SNP	0.986	T
LIPJ	142910	genome.wustl.edu	37	10	90366476	90366476	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:90366476G>A	ENST00000371939.3	+	11	1227	c.913G>A	c.(913-915)Gca>Aca	p.A305T		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	305					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TGTGGCAACTGCAATTTGGAA	0.323																																																	0													85.0	84.0	84.0					10																	90366476		2203	4300	6503	SO:0001583	missense	0			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.913G>A	10.37:g.90366476G>A	ENSP00000361007:p.Ala305Thr		A8MT98|Q0P671	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.A305T	ENST00000371939.3	37	c.913	CCDS31240.1	10	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163714	0.78226	.	.	ENSG00000204022	ENST00000371939;ENST00000531458	T;T	0.70399	-0.48;-0.48	5.55	3.69	0.42338	Alpha/beta hydrolase fold-1 (1);	0.500307	0.16666	N	0.204595	T	0.81128	0.4758	M	0.76433	2.335	0.09310	N	0.999999	D	0.63046	0.992	D	0.66716	0.946	T	0.70641	-0.4816	10	0.66056	D	0.02	-28.2034	9.7315	0.40363	0.0744:0.0:0.7849:0.1407	.	305	Q5W064	LIPJ_HUMAN	T	305;120	ENSP00000361007:A305T;ENSP00000434211:A120T	ENSP00000361007:A305T	A	+	1	0	LIPJ	90356456	0.767000	0.28508	0.005000	0.12908	0.393000	0.30537	3.493000	0.53266	0.701000	0.31803	0.655000	0.94253	GCA	LIPJ	-	pfam_AB_hydrolase_1	ENSG00000204022		0.323	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPJ	HGNC	protein_coding	OTTHUMT00000049248.2	-	0.00	57	0	G	XM_084377		90366476	+1	tier1	-	no_errors	ENST00000371939	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.391	A
LRRC34	151827	genome.wustl.edu	37	3	169526464	169526464	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr3:169526464G>C	ENST00000316515.7	-	2	446	c.170C>G	c.(169-171)cCt>cGt	p.P57R	LRRC34_ENST00000524327.1_5'Flank|LRRC34_ENST00000522830.1_Missense_Mutation_p.P9R|LRRC34_ENST00000446859.1_Missense_Mutation_p.P70R|LRRC34_ENST00000522526.2_Missense_Mutation_p.P70R	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	57										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CAATATAAAAGGATTAATTTT	0.299																																																	0													41.0	43.0	42.0					3																	169526464		2189	4283	6472	SO:0001583	missense	0			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.170C>G	3.37:g.169526464G>C	ENSP00000326150:p.Pro57Arg		B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P70R	ENST00000316515.7	37	c.209		3	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478949	0.44044	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526	T;T;T;T	0.50813	0.85;0.73;0.95;0.73	5.01	2.12	0.27331	.	0.640517	0.17555	N	0.170006	T	0.54581	0.1867	L	0.58101	1.795	0.09310	N	1	P;P;P;D;P	0.54772	0.868;0.664;0.851;0.968;0.933	B;B;P;P;B	0.54401	0.312;0.117;0.576;0.751;0.391	T	0.48007	-0.9072	10	0.62326	D	0.03	-1.5335	10.9522	0.47336	0.0:0.0:0.504:0.496	.	57;9;9;70;57	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	R	70;57;9;70	ENSP00000414635:P70R;ENSP00000326150:P57R;ENSP00000429593:P9R;ENSP00000429278:P70R	ENSP00000326150:P57R	P	-	2	0	LRRC34	171009158	0.384000	0.25164	0.006000	0.13384	0.288000	0.27193	0.903000	0.28475	0.335000	0.23614	0.561000	0.74099	CCT	LRRC34	-	NULL	ENSG00000171757		0.299	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	HGNC	protein_coding		-	0.00	57	0	G	NM_153353		169526464	-1	tier1	-	no_errors	ENST00000446859	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.009	C
LUC7L3	51747	genome.wustl.edu	37	17	48829869	48829869	+	3'UTR	SNP	C	C	G	rs189752694		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:48829869C>G	ENST00000505658.1	+	0	3335				LUC7L3_ENST00000240304.1_3'UTR|LUC7L3_ENST00000503798.1_3'UTR			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)						mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGTTTTCAATCTTGGACTTTG	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.*1847C>G	17.37:g.48829869C>G			B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	RNA	SNP	-	NULL	ENST00000505658.1	37	NULL	CCDS11573.1	17																																																																																			LUC7L3	-	-	ENSG00000108848		0.318	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L3	HGNC	protein_coding	OTTHUMT00000368205.2	-	0.00	58	0	C	NM_016424		48829869	+1	tier1	-	no_errors	ENST00000503798	ensembl	human	putative	74_37	rna	12.50	42	6	SNP	1.000	G
ME2	4200	genome.wustl.edu	37	18	48450549	48450549	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr18:48450549G>A	ENST00000321341.5	+	11	1410	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	ME2_ENST00000382927.3_Missense_Mutation_p.A380T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	380					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TTTTGAAGATGCAGTGAATAT	0.348																																																	0													100.0	99.0	99.0					18																	48450549		2203	4299	6502	SO:0001583	missense	0			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1138G>A	18.37:g.48450549G>A	ENSP00000321070:p.Ala380Thr		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.A380T	ENST00000321341.5	37	c.1138	CCDS11948.1	18	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659624	0.67586	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.34859	1.34;1.34	5.44	5.44	0.79542	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	M	0.69463	2.115	0.58432	D	0.99999	B;B	0.30526	0.283;0.098	B;B	0.41374	0.355;0.252	T	0.49082	-0.8976	10	0.62326	D	0.03	-24.2506	16.5355	0.84372	0.0:0.0:1.0:0.0	.	380;380	Q9BWL6;P23368	.;MAOM_HUMAN	T	380	ENSP00000321070:A380T;ENSP00000372384:A380T	ENSP00000321070:A380T	A	+	1	0	ME2	46704547	1.000000	0.71417	0.996000	0.52242	0.540000	0.34992	7.647000	0.83462	2.716000	0.92895	0.561000	0.74099	GCA	ME2	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd	ENSG00000082212		0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	-	0.00	55	0	G	NM_002396		48450549	+1	tier1	-	no_errors	ENST00000321341	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A
MC4R	4160	genome.wustl.edu	37	18	58038995	58038995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr18:58038995G>T	ENST00000299766.3	-	1	1006	c.588C>A	c.(586-588)tgC>tgA	p.C196*		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	196					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)	p.C196*(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TGGTGATGAGGCAGATGATGA	0.468																																																	1	Substitution - Nonsense(1)	endometrium(1)											89.0	82.0	84.0					18																	58038995		2203	4300	6503	SO:0001587	stop_gained	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.588C>A	18.37:g.58038995G>T	ENSP00000299766:p.Cys196*		B2RAC3|Q16317|Q3MIJ6	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.C196*	ENST00000299766.3	37	c.588	CCDS11976.1	18	.	.	.	.	.	.	.	.	.	.	G	39	7.618089	0.98393	.	.	ENSG00000166603	ENST00000299766	.	.	.	5.85	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4626	0.32936	0.2417:0.0:0.7583:0.0	.	.	.	.	X	196	.	ENSP00000299766:C196X	C	-	3	2	MC4R	56189975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.945000	0.29056	1.472000	0.48140	0.655000	0.94253	TGC	MC4R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	ENSG00000166603		0.468	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1		0.00	52	0	G	NM_005912		58038995	-1			no_errors	ENST00000299766	ensembl	human	known	74_37	nonsense	7.69	36	3	SNP	1.000	T
MFN2	9927	genome.wustl.edu	37	1	12049265	12049265	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:12049265G>T	ENST00000235329.5	+	3	362	c.40G>T	c.(40-42)Gtc>Ttc	p.V14F	MFN2_ENST00000444836.1_Missense_Mutation_p.V14F|MFN2_ENST00000497302.1_3'UTR	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	14					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TATCGTCACAGTCAAGAAAAA	0.493																																																	0													172.0	156.0	161.0					1																	12049265		2203	4300	6503	SO:0001583	missense	0			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.40G>T	1.37:g.12049265G>T	ENSP00000235329:p.Val14Phe		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.V14F	ENST00000235329.5	37	c.40	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.603222	0.46423	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	D;D;D	0.99382	-5.8;-5.8;-3.6	5.88	4.88	0.63580	.	0.671077	0.15449	N	0.261783	D	0.95487	0.8534	N	0.14661	0.345	0.28000	N	0.93534	B	0.29805	0.257	B	0.21151	0.033	D	0.90246	0.4290	10	0.10902	T	0.67	-16.3388	8.633	0.33930	0.1901:0.0:0.8099:0.0	.	14	O95140	MFN2_HUMAN	F	14	ENSP00000416338:V14F;ENSP00000235329:V14F;ENSP00000412023:V14F	ENSP00000235329:V14F	V	+	1	0	MFN2	11971852	0.991000	0.36638	0.978000	0.43139	0.878000	0.50629	2.120000	0.41968	2.782000	0.95742	0.655000	0.94253	GTC	MFN2	-	NULL	ENSG00000116688		0.493	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2		0.00	55	0	G	NM_014874		12049265	+1			no_errors	ENST00000235329	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.920	T
MID1	4281	genome.wustl.edu	37	X	10417677	10417677	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chrX:10417677G>A	ENST00000317552.4	-	10	2135	c.1735C>T	c.(1735-1737)Cgc>Tgc	p.R579C	MID1_ENST00000380780.1_Missense_Mutation_p.R579C|MID1_ENST00000380779.1_Missense_Mutation_p.R579C|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380782.2_Intron|MID1_ENST00000453318.2_Missense_Mutation_p.R579C|MID1_ENST00000380785.1_Missense_Mutation_p.R579C|MID1_ENST00000380787.1_Missense_Mutation_p.R579C	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	579	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TTGTTGCAGCGGCAGAGCGCC	0.537																																																	0													79.0	63.0	69.0					X																	10417677		2203	4300	6503	SO:0001583	missense	0			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1735C>T	X.37:g.10417677G>A	ENSP00000312678:p.Arg579Cys		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R579C	ENST00000317552.4	37	c.1735	CCDS14138.1	X	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330340	0.81690	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	L	0.47078	1.49	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.87578	0.998;0.845;0.997	T	0.68522	-0.5386	10	0.35671	T	0.21	.	18.5394	0.91022	0.0:0.0:1.0:0.0	.	579;579;529	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	C	579;579;579;579;579;579;529	ENSP00000414521:R579C;ENSP00000312678:R579C;ENSP00000370162:R579C;ENSP00000370156:R579C;ENSP00000370164:R579C;ENSP00000370157:R579C	ENSP00000312678:R579C	R	-	1	0	MID1	10377677	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.333000	0.79214	2.322000	0.78497	0.422000	0.28245	CGC	MID1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000101871		0.537	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1	-	0.00	11	0	G			10417677	-1	tier1	-	no_errors	ENST00000317552	ensembl	human	known	74_37	missense	63.16	7	12	SNP	1.000	A
MKI67	4288	genome.wustl.edu	37	10	129902236	129902236	+	Missense_Mutation	SNP	G	G	A	rs368793936		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:129902236G>A	ENST00000368654.3	-	13	8243	c.7868C>T	c.(7867-7869)aCg>aTg	p.T2623M	MKI67_ENST00000368653.3_Missense_Mutation_p.T2263M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2623	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGATGTTTGCGTGAGCCTCTC	0.498																																																	0								G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	170.0	152.0	158.0		6788,7868	0.5	0.0	10		158	0,8600		0,0,4300	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	2263/2897,2623/3257	129902236	2,13004	2203	4300	6503	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7868C>T	10.37:g.129902236G>A	ENSP00000357643:p.Thr2623Met		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.T2623M	ENST00000368654.3	37	c.7868	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915307	0.33815	4.54E-4	0.0	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02682	4.2;4.2	3.48	0.462	0.16695	.	2.961170	0.01403	N	0.013662	T	0.09642	0.0237	L	0.45581	1.43	0.09310	N	1	D;D;D	0.89917	0.973;1.0;1.0	B;D;D	0.85130	0.362;0.997;0.997	T	0.18304	-1.0341	10	0.46703	T	0.11	.	3.3262	0.07067	0.2543:0.225:0.5207:0.0	.	2622;2263;2623	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	2623;2263;2622	ENSP00000357643:T2623M;ENSP00000357642:T2263M	ENSP00000357642:T2263M	T	-	2	0	MKI67	129792226	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.519000	0.06260	0.253000	0.21552	-0.302000	0.09304	ACG	MKI67	-	pfam_K167R	ENSG00000148773		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	-	0.00	117	0	G	NM_002417		129902236	-1	tier1	-	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	26.61	91	33	SNP	0.000	A
MME	4311	genome.wustl.edu	37	3	154886358	154886358	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr3:154886358C>A	ENST00000460393.1	+	19	1978	c.1858C>A	c.(1858-1860)Cag>Aag	p.Q620K	MME_ENST00000462745.1_Missense_Mutation_p.Q620K|MME_ENST00000493237.1_Missense_Mutation_p.Q620K|MME_ENST00000492661.1_Missense_Mutation_p.Q620K|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.Q620K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	620					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GGAGCAATCCCAGTGCATGGT	0.393																																																	0													125.0	119.0	121.0					3																	154886358		2203	4300	6503	SO:0001583	missense	0				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1858C>A	3.37:g.154886358C>A	ENSP00000418525:p.Gln620Lys		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.Q620K	ENST00000460393.1	37	c.1858	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832496	0.32421	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.25	2.13	0.27403	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.247105	0.41097	N	0.000950	T	0.69851	0.3157	N	0.20530	0.585	0.53005	D	0.999966	B	0.06786	0.001	B	0.12156	0.007	T	0.61964	-0.6954	10	0.42905	T	0.14	-5.4048	10.9072	0.47086	0.148:0.4957:0.3562:0.0	.	620	P08473	NEP_HUMAN	K	620	ENSP00000420389:Q620K;ENSP00000418525:Q620K;ENSP00000419653:Q620K;ENSP00000417079:Q620K;ENSP00000353679:Q620K	ENSP00000353679:Q620K	Q	+	1	0	MME	156369052	0.977000	0.34250	0.622000	0.29159	0.883000	0.51084	2.542000	0.45744	0.510000	0.28216	0.650000	0.86243	CAG	MME	-	pfam_Peptidase_M13_C	ENSG00000196549		0.393	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	-	0.00	71	0	C	NM_000902		154886358	+1	tier1	-	no_errors	ENST00000360490	ensembl	human	known	74_37	missense	10.34	78	9	SNP	0.871	A
MON2	23041	genome.wustl.edu	37	12	62936944	62936944	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:62936944T>A	ENST00000393632.2	+	20	2823	c.2432T>A	c.(2431-2433)aTt>aAt	p.I811N	MON2_ENST00000552115.1_Missense_Mutation_p.I811N|MON2_ENST00000393630.3_Missense_Mutation_p.I811N|MON2_ENST00000546600.1_Missense_Mutation_p.I811N|RNU6-399P_ENST00000365164.1_RNA|MON2_ENST00000393629.2_Missense_Mutation_p.I811N|MON2_ENST00000280379.6_Missense_Mutation_p.I811N|MON2_ENST00000552738.1_Missense_Mutation_p.I788N	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	811					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)		CGAATAGAAATTCTGTGGAGA	0.318																																																	0													102.0	103.0	103.0					12																	62936944		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.2432T>A	12.37:g.62936944T>A	ENSP00000377252:p.Ile811Asn		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold	p.I811N	ENST00000393632.2	37	c.2432	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867537	0.72065	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;1.46	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.71674	0.989;0.994;0.994;0.998	P;D;D;D	0.67725	0.854;0.953;0.921;0.953	T	0.65100	-0.6250	9	.	.	.	-23.2107	15.8772	0.79173	0.0:0.0:0.0:1.0	.	811;788;811;811	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	N	811;811;811;811;788;811;811	ENSP00000377252:I811N;ENSP00000377250:I811N;ENSP00000280379:I811N;ENSP00000447407:I811N;ENSP00000449215:I788N;ENSP00000377249:I811N;ENSP00000446635:I811N	.	I	+	2	0	MON2	61223211	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.202000	0.70862	0.533000	0.62120	ATT	MON2	-	superfamily_ARM-type_fold	ENSG00000061987		0.318	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	-	0.00	112	0	T	NM_015026		62936944	+1	tier1	-	no_errors	ENST00000393630	ensembl	human	known	74_37	missense	8.70	63	6	SNP	1.000	A
MROH9	80133	genome.wustl.edu	37	1	170985377	170985377	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:170985377A>G	ENST00000367759.4	+	17	1962	c.1808A>G	c.(1807-1809)cAg>cGg	p.Q603R		NM_001163629.1	NP_001157101.1	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	0																	GTTGTACTTCAGGCCTTGCTC	0.413																																																	0													200.0	162.0	174.0					1																	170985377		692	1591	2283	SO:0001583	missense	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367759.4:c.1808A>G	1.37:g.170985377A>G	ENSP00000356733:p.Gln603Arg		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q603R	ENST00000367759.4	37	c.1808	CCDS53429.1	1	.	.	.	.	.	.	.	.	.	.	A	2.093	-0.407887	0.04832	.	.	ENSG00000117501	ENST00000367759	T	0.65916	-0.18	5.6	-1.35	0.09114	.	.	.	.	.	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27971	-1.0058	9	0.29301	T	0.29	.	9.3277	0.38003	0.6137:0.0:0.3863:0.0	.	603	F5GWX6	.	R	603	ENSP00000356733:Q603R	ENSP00000356733:Q603R	Q	+	2	0	C1orf129	169252001	0.597000	0.26874	0.047000	0.18901	0.002000	0.02628	0.262000	0.18460	-0.130000	0.11599	-1.699000	0.00722	CAG	MROH9	-	superfamily_ARM-type_fold	ENSG00000117501		0.413	MROH9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH9	HGNC	protein_coding		-	0.00	97	0	A	NM_025063		170985377	+1	tier1	-	no_errors	ENST00000367759	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.189	G
MUC4	4585	genome.wustl.edu	37	3	195505314	195505314	+	Missense_Mutation	SNP	G	G	A	rs142178516		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr3:195505314G>A	ENST00000346145.4	-	2	134	c.95C>T	c.(94-96)cCg>cTg	p.P32L	MUC4_ENST00000475231.1_Missense_Mutation_p.P4268L|MUC4_ENST00000463781.3_Missense_Mutation_p.P4268L|MUC4_ENST00000349607.4_Intron	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1025					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTTCAGTGACGGTGTTGTCAT	0.517																																																	0								G	LEU/PRO,LEU/PRO,	1,4401	2.1+/-5.4	0,1,2200	168.0	141.0	150.0		95,12803,	0.6	0.0	3	dbSNP_134	150	0,8582		0,0,4291	no	missense,missense,intron	MUC4	NM_004532.5,NM_018406.6,NM_138297.4	98,98,	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,	32/1177,4268/5413,	195505314	1,12983	2201	4291	6492	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.95C>T	3.37:g.195505314G>A	ENSP00000304207:p.Pro32Leu		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P4268L	ENST00000346145.4	37	c.12803	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	g	12.72	2.023304	0.35701	2.27E-4	0.0	ENSG00000145113	ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T	0.32988	1.55;1.43;1.46	3.53	0.622	0.17648	.	2.192890	0.02278	N	0.069081	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	P;B;P	0.36660	0.493;0.003;0.564	B;B;B	0.25506	0.03;0.001;0.061	T	0.14559	-1.0468	10	0.02654	T	1	-0.02	2.782	0.05363	0.2468:0.0:0.5298:0.2234	.	4140;1025;32	E7ESK3;Q99102;Q99102-13	.;MUC4_HUMAN;.	L	32;4268;4268;994	ENSP00000304207:P32L;ENSP00000417498:P4268L;ENSP00000420243:P4268L	ENSP00000304207:P32L	P	-	2	0	MUC4	196990093	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.862000	0.27899	0.112000	0.17975	0.633000	0.83428	CCG	MUC4	-	NULL	ENSG00000145113		0.517	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	-	0.00	49	0	G	NM_018406		195505314	-1	tier1	rs142178516	no_errors	ENST00000463781	ensembl	human	known	74_37	missense	21.74	90	25	SNP	0.000	A
MYO1C	4641	genome.wustl.edu	37	17	1378125	1378125	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:1378125A>G	ENST00000575158.1	-	16	1768	c.1592T>C	c.(1591-1593)cTc>cCc	p.L531P	MYO1C_ENST00000545534.2_Missense_Mutation_p.L542P|MYO1C_ENST00000359786.5_Missense_Mutation_p.L566P|MYO1C_ENST00000361007.2_Missense_Mutation_p.L531P|MYO1C_ENST00000438665.2_Missense_Mutation_p.L547P			Q12965	MYO1E_HUMAN	myosin IC	526	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTTCCGGAAGAGAAGGTCATT	0.632																																																	0													49.0	54.0	52.0					17																	1378125		2203	4300	6503	SO:0001583	missense	0			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1592T>C	17.37:g.1378125A>G	ENSP00000459174:p.Leu531Pro		Q14778	Missense_Mutation	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.L566P	ENST00000575158.1	37	c.1697	CCDS11003.1	17	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961668	0.74016	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95	5.14	4.07	0.47477	Myosin head, motor domain (2);	0.251700	0.41500	D	0.000871	D	0.97682	0.9240	H	0.99555	4.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.991	D	0.97177	0.9848	10	0.87932	D	0	.	10.3696	0.44046	0.9231:0.0:0.0769:0.0	.	542;566;547	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	P	566;547;547;531;542;531	ENSP00000352834:L566P;ENSP00000412197:L547P;ENSP00000354283:L531P;ENSP00000437685:L542P	ENSP00000352834:L566P	L	-	2	0	MYO1C	1324875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.079000	0.76829	1.094000	0.41399	0.533000	0.62120	CTC	MYO1C	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197879		0.632	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	-	0.00	40	0	A			1378125	-1	tier1	-	no_errors	ENST00000359786	ensembl	human	known	74_37	missense	45.65	25	21	SNP	1.000	G
NEB	4703	genome.wustl.edu	37	2	152471049	152471049	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr2:152471049C>T	ENST00000172853.10	-	73	10760	c.10613G>A	c.(10612-10614)cGg>cAg	p.R3538Q	NEB_ENST00000603639.1_Missense_Mutation_p.R3781Q|NEB_ENST00000427231.2_Missense_Mutation_p.R3781Q|NEB_ENST00000604864.1_Missense_Mutation_p.R3781Q|NEB_ENST00000409198.1_Missense_Mutation_p.R3538Q|NEB_ENST00000397345.3_Missense_Mutation_p.R3781Q			P20929	NEBU_HUMAN	nebulin	3538					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.R3538Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTAATGTTCCGGGCCCCAAT	0.433																																																	1	Substitution - Missense(1)	breast(1)											150.0	142.0	145.0					2																	152471049		1918	4122	6040	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10613G>A	2.37:g.152471049C>T	ENSP00000172853:p.Arg3538Gln		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R3781Q	ENST00000172853.10	37	c.11342		2	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765195	0.69878	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.08282	3.11;3.18;3.13;3.11	5.78	4.9	0.64082	.	0.139729	0.49305	D	0.000157	T	0.12860	0.0312	M	0.84082	2.675	0.80722	D	1	P	0.52463	0.953	B	0.35607	0.206	T	0.17837	-1.0356	10	0.35671	T	0.21	.	15.4307	0.75092	0.0:0.933:0.0:0.067	.	3538	P20929	NEBU_HUMAN	Q	3538;3781;3781;3538	ENSP00000386259:R3538Q;ENSP00000380505:R3781Q;ENSP00000416578:R3781Q;ENSP00000172853:R3538Q	ENSP00000172853:R3538Q	R	-	2	0	NEB	152179295	0.437000	0.25593	0.762000	0.31397	0.386000	0.30323	1.109000	0.31135	1.590000	0.49995	0.655000	0.94253	CGG	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.433	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	106	0	C	NM_004543		152471049	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	13.11	106	16	SNP	1.000	T
NFE2L3	9603	genome.wustl.edu	37	7	26225269	26225269	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:26225269G>A	ENST00000056233.3	+	4	2210	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	651					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TAGATTAAGAGATGACCAAGG	0.408																																																	0													103.0	101.0	102.0					7																	26225269		2203	4300	6503	SO:0001583	missense	0			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1951G>A	7.37:g.26225269G>A	ENSP00000056233:p.Asp651Asn		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.D651N	ENST00000056233.3	37	c.1951	CCDS5396.1	7	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015253	0.93404	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.55760	0.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.76378	0.3979	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.78119	-0.2328	10	0.62326	D	0.03	-25.2697	19.6091	0.95594	0.0:0.0:1.0:0.0	.	651	Q9Y4A8	NF2L3_HUMAN	N	651;356	ENSP00000056233:D651N	ENSP00000056233:D651N	D	+	1	0	NFE2L3	26191794	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.743000	0.98849	2.738000	0.93877	0.591000	0.81541	GAT	NFE2L3	-	NULL	ENSG00000050344		0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	-	0.00	45	0	G			26225269	+1	tier1	-	no_errors	ENST00000056233	ensembl	human	known	74_37	missense	20.83	57	15	SNP	1.000	A
NPIPB7	440350	genome.wustl.edu	37	16	28468188	28468188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:28468188C>A	ENST00000452313.1	-	7	910	c.802G>T	c.(802-804)Gag>Tag	p.E268*	RP11-57A19.5_ENST00000602838.1_lincRNA			O75200	NPIB7_HUMAN	nuclear pore complex interacting protein family, member B7	268	Pro-rich.					extracellular region (GO:0005576)											AGCAGACACTCGGGAGGTGTC	0.512																																																	0																																										SO:0001587	stop_gained	0			BC156858, AC002425		16p11.2	2013-06-11	2013-06-11	2013-06-11	ENSG00000233232	ENSG00000233232			33832	other	unknown			"""nuclear pore complex interacting protein-like 1"""	NPIPL1			Standard	NG_023370		Approved	LOC440350	uc010vcq.2	O75200	OTTHUMG00000156915	ENST00000452313.1:c.802G>T	16.37:g.28468188C>A	ENSP00000405348:p.Glu268*		E7ERT9	Nonsense_Mutation	SNP	NULL	p.E268*	ENST00000452313.1	37	c.802		16	.	.	.	.	.	.	.	.	.	.	N	9.445	1.089176	0.20390	.	.	ENSG00000233232	ENST00000452313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	.	.	.	.	.	.	.	X	268	.	ENSP00000405348:E268X	E	-	1	0	NPIPL1	28375689	0.027000	0.19231	0.027000	0.17364	0.027000	0.11550	0.055000	0.14229	0.064000	0.16427	0.064000	0.15345	GAG	NPIPB7	-	NULL	ENSG00000233232		0.512	NPIPB7-001	NOVEL	basic|appris_principal	protein_coding	NPIPB7	HGNC	protein_coding	OTTHUMT00000346596.1	-	0.00	137	0	C	NG_023370		28468188	-1	tier1	-	no_errors	ENST00000452313	ensembl	human	novel	74_37	nonsense	31.39	93	43	SNP	0.027	A
NTRK1	4914	genome.wustl.edu	37	1	156844776	156844776	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:156844776C>T	ENST00000524377.1	+	11	1371	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	NTRK1_ENST00000368196.3_Missense_Mutation_p.R438W|NTRK1_ENST00000392302.2_Missense_Mutation_p.R408W|NTRK1_ENST00000358660.3_Missense_Mutation_p.R438W	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	444			R -> Q (in dbSNP:rs56320207). {ECO:0000269|PubMed:17344846}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CAAATGTGGACGGAGAAACAA	0.567			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																														Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	0													134.0	125.0	128.0					1																	156844776		2203	4300	6503	SO:0001583	missense	0			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1330C>T	1.37:g.156844776C>T	ENSP00000431418:p.Arg444Trp		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.R444W	ENST00000524377.1	37	c.1330	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293375	0.60086	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.79247	-1.21;-1.21;-1.25;-1.24	5.57	4.66	0.58398	.	0.598045	0.14997	N	0.286303	T	0.78181	0.4243	M	0.64997	1.995	0.34146	D	0.666945	D;D;D;D	0.76494	0.995;0.999;0.978;0.997	P;P;B;P	0.55824	0.762;0.785;0.425;0.65	T	0.79555	-0.1755	10	0.87932	D	0	.	14.9582	0.71135	0.2584:0.7416:0.0:0.0	.	438;438;444;408	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	W	408;438;444;438	ENSP00000376120:R408W;ENSP00000357179:R438W;ENSP00000431418:R444W;ENSP00000351486:R438W	ENSP00000351486:R438W	R	+	1	2	NTRK1	155111400	1.000000	0.71417	0.998000	0.56505	0.428000	0.31595	4.359000	0.59449	0.715000	0.32103	-1.367000	0.01198	CGG	NTRK1	-	prints_Tyr_kinase_neurotrophic_rcpt_1	ENSG00000198400		0.567	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	-	0.00	40	0	C	NM_002529		156844776	+1	tier1	-	no_errors	ENST00000524377	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T
OBSCN	84033	genome.wustl.edu	37	1	228467068	228467068	+	Missense_Mutation	SNP	G	G	A	rs547478529		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:228467068G>A	ENST00000422127.1	+	27	7363	c.7319G>A	c.(7318-7320)cGg>cAg	p.R2440Q	OBSCN_ENST00000284548.11_Missense_Mutation_p.R2440Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1287Q|OBSCN_ENST00000570156.2_Missense_Mutation_p.R2869Q|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2440					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGCTGCGGCGGACCTGCTCC	0.701													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15076	0.0		0.0	False		,,,				2504	0.0																0													41.0	49.0	47.0					1																	228467068		2108	4213	6321	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7319G>A	1.37:g.228467068G>A	ENSP00000409493:p.Arg2440Gln		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R2440Q	ENST00000422127.1	37	c.7319	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129412	0.37630	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.41065	1.01;1.01;1.01	4.62	0.992	0.19819	Immunoglobulin-like fold (1);	0.320797	0.25180	N	0.032531	T	0.31167	0.0788	N	0.05574	-0.02	0.09310	N	0.999991	D;P;D	0.89917	1.0;0.813;0.973	P;B;B	0.61874	0.895;0.091;0.31	T	0.25398	-1.0133	10	0.13853	T	0.58	.	7.0431	0.25031	0.652:0.0:0.348:0.0	.	2440;2440;2440	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	Q	2440;2440;1287;139	ENSP00000284548:R2440Q;ENSP00000409493:R2440Q;ENSP00000352613:R1287Q	ENSP00000284548:R2440Q	R	+	2	0	OBSCN	226533691	0.227000	0.23707	0.269000	0.24586	0.299000	0.27559	2.721000	0.47260	0.270000	0.21984	0.555000	0.69702	CGG	OBSCN	-	NULL	ENSG00000154358		0.701	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0.00	122	0	G	NM_052843		228467068	+1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	7.65	181	15	SNP	0.059	A
OR51T1	401665	genome.wustl.edu	37	11	4904034	4904034	+	Missense_Mutation	SNP	G	G	A	rs151076376	byFrequency	TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:4904034G>A	ENST00000322049.1	+	1	905	c.905G>A	c.(904-906)cGc>cAc	p.R302H	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.R329H|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R302L(1)|p.R329L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGACAATCCGCCAGGCTATG	0.483																																																	2	Substitution - Missense(2)	lung(2)						G	HIS/ARG	0,4402		0,0,2201	93.0	88.0	90.0		986	4.0	0.9	11	dbSNP_134	90	5,8591	4.3+/-15.6	0,5,4293	yes	missense	OR51T1	NM_001004759.1	29	0,5,6494	AA,AG,GG		0.0582,0.0,0.0385	benign	329/355	4904034	5,12993	2201	4298	6499	SO:0001583	missense	0			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.905G>A	11.37:g.4904034G>A	ENSP00000322679:p.Arg302His		Q6IFH9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R329H	ENST00000322049.1	37	c.986		11	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923538	0.52653	0.0	5.82E-4	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.58358	0.34;0.34	4.97	4.04	0.47022	.	0.322556	0.22730	N	0.056338	T	0.32734	0.0839	N	0.08118	0	0.39490	D	0.968038	B	0.18968	0.032	B	0.12156	0.007	T	0.30001	-0.9993	10	0.72032	D	0.01	.	12.5266	0.56089	0.0833:0.0:0.9167:0.0	.	302	Q8NGJ9	O51T1_HUMAN	H	329;302	ENSP00000369738:R329H;ENSP00000322679:R302H	ENSP00000322679:R302H	R	+	2	0	OR51T1	4860610	0.001000	0.12720	0.947000	0.38551	0.992000	0.81027	0.506000	0.22658	2.595000	0.87683	0.491000	0.48974	CGC	OR51T1	-	prints_GPCR_Rhodpsn	ENSG00000176900		0.483	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	OR51T1	HGNC	protein_coding	OTTHUMT00000142180.1	-	0.00	62	0	G	NM_001004759		4904034	+1	tier1	rs151076376	no_errors	ENST00000380378	ensembl	human	known	74_37	missense	36.36	35	20	SNP	0.964	A
OR51V1	283111	genome.wustl.edu	37	11	5221161	5221161	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:5221161A>G	ENST00000321255.1	-	1	769	c.770T>C	c.(769-771)gTc>gCc	p.V257A		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	257					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACACAAGGACAGCACAGAT	0.483																																																	0													141.0	124.0	129.0					11																	5221161		2201	4298	6499	SO:0001583	missense	0			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.770T>C	11.37:g.5221161A>G	ENSP00000321729:p.Val257Ala			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V257A	ENST00000321255.1	37	c.770	CCDS31375.1	11	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004873	0.35415	.	.	ENSG00000176742	ENST00000321255	T	0.72394	-0.65	5.27	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.291741	0.24608	N	0.037073	D	0.83119	0.5185	M	0.93808	3.46	0.24965	N	0.991708	D	0.59357	0.985	P	0.56648	0.803	T	0.77024	-0.2741	10	0.87932	D	0	.	7.7543	0.28915	0.8349:0.0:0.1651:0.0	.	257	Q9H2C8	O51V1_HUMAN	A	257	ENSP00000321729:V257A	ENSP00000321729:V257A	V	-	2	0	OR51V1	5177737	0.712000	0.27916	0.761000	0.31378	0.102000	0.19082	6.410000	0.73294	0.988000	0.38734	0.533000	0.62120	GTC	OR51V1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176742		0.483	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	HGNC	protein_coding	OTTHUMT00000142965.1	-	0.00	81	0	A	NM_001004760		5221161	-1	tier1	-	no_errors	ENST00000321255	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.664	G
PARVB	29780	genome.wustl.edu	37	22	44515695	44515695	+	Intron	SNP	G	G	T	rs561668755		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr22:44515695G>T	ENST00000338758.7	+	4	439				PARVB_ENST00000404989.1_Intron|PARVB_ENST00000406477.3_Intron	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta						actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				ttgtgatgagggccttcggag	0.517																																																	0													35.0	35.0	35.0					22																	44515695		876	1991	2867	SO:0001627	intron_variant	0			AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.376+675G>T	22.37:g.44515695G>T			B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	RNA	SNP	-	NULL	ENST00000338758.7	37	NULL	CCDS14056.1	22	.	.	.	.	.	.	.	.	.	.	G	0.734	-0.778691	0.02929	.	.	ENSG00000188677	ENST00000402876	T	0.35236	1.32	1.24	0.162	0.14981	.	.	.	.	.	T	0.29524	0.0736	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30031	-0.9992	6	0.54805	T	0.06	.	3.5109	0.07708	0.2782:0.0:0.7218:0.0	.	.	.	.	C	135	ENSP00000385331:G135C	ENSP00000385331:G135C	G	+	1	0	PARVB	42847028	0.181000	0.23161	0.003000	0.11579	0.015000	0.08874	1.223000	0.32527	0.088000	0.17205	0.411000	0.27672	GGC	PARVB	-	-	ENSG00000188677		0.517	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	HGNC	protein_coding	OTTHUMT00000319518.2	-	0.00	60	0	G	NM_001003828		44515695	+1	tier1	-	no_errors	ENST00000402876	ensembl	human	known	74_37	rna	6.45	58	4	SNP	0.004	T
PIGN	23556	genome.wustl.edu	37	18	59755997	59755997	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr18:59755997A>G	ENST00000357637.5	-	25	2777	c.2362T>C	c.(2362-2364)Ttt>Ctt	p.F788L	PIGN_ENST00000400334.3_Missense_Mutation_p.F788L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	788					C-terminal protein lipidation (GO:0006501)|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)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ACAAGGAAAAAGGCCCTACGG	0.388																																																	0													56.0	51.0	53.0					18																	59755997		1834	4075	5909	SO:0001583	missense	0			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2362T>C	18.37:g.59755997A>G	ENSP00000350263:p.Phe788Leu		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.F788L	ENST00000357637.5	37	c.2362	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	A	8.780	0.928118	0.18131	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.48201	0.82;0.82	5.78	4.6	0.57074	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.126603	0.56097	D	0.000032	T	0.33614	0.0869	N	0.20845	0.615	0.46298	D	0.998978	B;B	0.23854	0.092;0.092	B;B	0.35931	0.214;0.054	T	0.06752	-1.0809	10	0.06757	T	0.87	-17.1934	11.5623	0.50785	0.8659:0.0:0.0:0.1341	.	788;788	B2RCI8;O95427	.;PIGN_HUMAN	L	788	ENSP00000350263:F788L;ENSP00000383188:F788L	ENSP00000350263:F788L	F	-	1	0	PIGN	57906977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.321000	0.72881	1.080000	0.41073	0.482000	0.46254	TTT	PIGN	-	pfam_GPI_EtnP_transferase_1_C	ENSG00000197563		0.388	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	HGNC	protein_coding	OTTHUMT00000449757.2		0.00	25	0	A	NM_176787		59755997	-1			no_errors	ENST00000357637	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	G
PLCB4	5332	genome.wustl.edu	37	20	9440415	9440415	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:9440415C>T	ENST00000378493.1	+	31	3185	c.3170C>T	c.(3169-3171)gCc>gTc	p.A1057V	PLCB4_ENST00000334005.3_Missense_Mutation_p.A1057V|PLCB4_ENST00000414679.2_Missense_Mutation_p.A1069V|PLCB4_ENST00000378501.2_Missense_Mutation_p.A1057V|PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000378473.3_Missense_Mutation_p.A1069V|PLCB4_ENST00000278655.4_Missense_Mutation_p.A1057V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1057					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTCATCAATGCCCACGAGCAG	0.473																																																	0													51.0	45.0	47.0					20																	9440415		2203	4300	6503	SO:0001583	missense	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3170C>T	20.37:g.9440415C>T	ENSP00000367754:p.Ala1057Val		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.A1057V	ENST00000378493.1	37	c.3170	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423171	0.25639	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.65	5.65	0.86999	.	0.335973	0.31784	N	0.007062	T	0.26048	0.0635	N	0.11870	0.19	0.36534	D	0.870908	B;B;B;B	0.09022	0.002;0.002;0.0;0.002	B;B;B;B	0.12837	0.006;0.004;0.0;0.008	T	0.18840	-1.0324	10	0.27785	T	0.31	.	12.9854	0.58588	0.0:0.9261:0.0:0.0738	.	1069;904;1057;1057	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	V	1057;1069;1057;1057;1057;905	ENSP00000334105:A1057V;ENSP00000367734:A1069V;ENSP00000278655:A1057V;ENSP00000367754:A1057V;ENSP00000367762:A1057V;ENSP00000390616:A905V	ENSP00000278655:A1057V	A	+	2	0	PLCB4	9388415	0.998000	0.40836	0.624000	0.29186	0.425000	0.31504	3.400000	0.52594	2.647000	0.89833	0.655000	0.94253	GCC	PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.473	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	-	0.00	26	0	C			9440415	+1	tier1	-	no_errors	ENST00000334005	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.625	T
PLCZ1	89869	genome.wustl.edu	37	12	18854614	18854614	+	Missense_Mutation	SNP	C	C	T	rs374237247		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:18854614C>T	ENST00000538330.1	-	5	565	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	PLCZ1_ENST00000542762.1_Intron|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000266505.7_Intron|PLCZ1_ENST00000447925.2_Intron|PLCZ1_ENST00000541695.1_Intron					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCTTCCCATTCCTCCACCTTA	0.413																																																	0								C		0,4406		0,0,2203	94.0	89.0	90.0			5.3	0.1	12		90	1,8599	1.2+/-3.3	0,1,4299	no	intron	PLCZ1	NM_033123.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			18854614	1,13005	2203	4300	6503	SO:0001583	missense	0			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.184G>A	12.37:g.18854614C>T	ENSP00000445880:p.Glu62Lys			Missense_Mutation	SNP	pfam_PLipase_C_Pinositol-sp_Y,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E62K	ENST00000538330.1	37	c.184		12	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315923	0.60524	0.0	1.16E-4	ENSG00000139151	ENST00000538330	T	0.11930	2.73	5.35	5.35	0.76521	.	.	.	.	.	T	0.16257	0.0391	.	.	.	0.80722	D	1	P	0.40970	0.734	B	0.42798	0.398	T	0.01553	-1.1326	7	.	.	.	.	14.9259	0.70878	0.0:1.0:0.0:0.0	.	62	Q8N7S5	.	K	62	ENSP00000445880:E62K	.	E	-	1	0	PLCZ1	18745881	0.019000	0.18553	0.074000	0.20217	0.804000	0.45430	2.107000	0.41844	2.668000	0.90789	0.655000	0.94253	GAA	PLCZ1	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000139151		0.413	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401666.3	-	0.00	37	0	C	NM_033123		18854614	-1	tier1	-	no_errors	ENST00000538330	ensembl	human	putative	74_37	missense	12.90	27	4	SNP	0.250	T
PLXNA2	5362	genome.wustl.edu	37	1	208200421	208200421	+	3'UTR	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:208200421C>T	ENST00000367033.3	-	0	6609				PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2						axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGGCTATGACGAAACTTGGC	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.*167G>A	1.37:g.208200421C>T			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	RNA	SNP	-	NULL	ENST00000367033.3	37	NULL	CCDS31013.1	1																																																																																			PLXNA2	-	-	ENSG00000076356		0.612	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0.00	49	0	C	NM_025179		208200421	-1	tier1	-	no_errors	ENST00000483048	ensembl	human	known	74_37	rna	8.33	44	4	SNP	0.000	T
PLXNA2	5362	genome.wustl.edu	37	1	208225774	208225774	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:208225774C>A	ENST00000367033.3	-	15	3648	c.2891G>T	c.(2890-2892)gGt>gTt	p.G964V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	964	IPT/TIG 2.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGACTCGGGACCTCGGATTGG	0.527																																																	0													87.0	79.0	82.0					1																	208225774		2203	4300	6503	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2891G>T	1.37:g.208225774C>A	ENSP00000356000:p.Gly964Val		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G964V	ENST00000367033.3	37	c.2891	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635920	0.87760	.	.	ENSG00000076356	ENST00000367033	T	0.68765	-0.35	5.58	5.58	0.84498	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87249	0.6130	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90084	0.4172	10	0.87932	D	0	.	19.5563	0.95349	0.0:1.0:0.0:0.0	.	964	O75051	PLXA2_HUMAN	V	964	ENSP00000356000:G964V	ENSP00000356000:G964V	G	-	2	0	PLXNA2	206292397	1.000000	0.71417	0.977000	0.42913	0.730000	0.41778	7.207000	0.77899	2.628000	0.89032	0.650000	0.86243	GGT	PLXNA2	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000076356		0.527	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6		0.00	66	0	C	NM_025179		208225774	-1			no_errors	ENST00000367033	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A
PPRC1	23082	genome.wustl.edu	37	10	103901475	103901475	+	Silent	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:103901475G>T	ENST00000278070.2	+	5	3249	c.3210G>T	c.(3208-3210)gtG>gtT	p.V1070V	PPRC1_ENST00000413464.2_Silent_p.V1070V|PPRC1_ENST00000370012.1_Silent_p.V37V	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1070	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AACACAAGGTGTCTGCCCTGG	0.567																																																	0													107.0	87.0	94.0					10																	103901475		2203	4300	6503	SO:0001819	synonymous_variant	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3210G>T	10.37:g.103901475G>T			Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V1070	ENST00000278070.2	37	c.3210	CCDS7529.1	10																																																																																			PPRC1	-	NULL	ENSG00000148840		0.567	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	-	0.00	33	0	G	NM_015062		103901475	+1	tier1	-	no_errors	ENST00000278070	ensembl	human	known	74_37	silent	33.33	12	6	SNP	0.000	T
SUPT6H	6830	genome.wustl.edu	37	17	27031779	27031779	+	IGR	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:27031779A>G	ENST00000314616.6	+	0	6518				PROCA1_ENST00000301039.2_Silent_p.C58C|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Silent_p.C60C|PROCA1_ENST00000581289.1_Intron	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGTGGCGGACACAGTCAGAGG	0.597																																																	0													123.0	101.0	108.0					17																	27031779		2203	4300	6503	SO:0001628	intergenic_variant	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27031779A>G			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	pfam_PLipase_A2,superfamily_PLipase_A2_dom	p.C60	ENST00000314616.6	37	c.180	CCDS32596.1	17																																																																																			PROCA1	-	pfam_PLipase_A2,superfamily_PLipase_A2_dom	ENSG00000167525		0.597	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	HGNC	protein_coding	OTTHUMT00000446422.2	-	0.00	39	0	A	NM_003170		27031779	-1	tier1	-	no_errors	ENST00000439862	ensembl	human	known	74_37	silent	18.64	48	11	SNP	0.853	G
PSD4	23550	genome.wustl.edu	37	2	113958885	113958885	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr2:113958885T>C	ENST00000245796.6	+	17	3259	c.3064T>C	c.(3064-3066)Tcc>Ccc	p.S1022P	PSD4_ENST00000441564.3_Missense_Mutation_p.S993P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	1022					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCGAGCCCGTCCCTGCACCA	0.622																																																	0													101.0	88.0	93.0					2																	113958885		2203	4300	6503	SO:0001583	missense	0			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.3064T>C	2.37:g.113958885T>C	ENSP00000245796:p.Ser1022Pro		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.S1022P	ENST00000245796.6	37	c.3064	CCDS33276.1	2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048511	0.75846	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.18810	2.19;2.27	5.22	5.22	0.72569	.	0.063501	0.64402	D	0.000005	T	0.44726	0.1307	M	0.72118	2.19	0.80722	D	1	D;D;D;P;P	0.89917	0.999;1.0;0.999;0.903;0.857	D;D;D;P;B	0.72982	0.979;0.963;0.961;0.579;0.373	T	0.44559	-0.9320	10	0.87932	D	0	.	13.0545	0.58971	0.0:0.0:0.0:1.0	.	252;335;679;993;1022	B4DFU9;B3KN27;Q59HG0;Q8NDX1-2;Q8NDX1	.;.;.;.;PSD4_HUMAN	P	1022;993	ENSP00000245796:S1022P;ENSP00000413997:S993P	ENSP00000245796:S1022P	S	+	1	0	PSD4	113675356	0.998000	0.40836	0.383000	0.26132	0.991000	0.79684	2.800000	0.47900	1.971000	0.57363	0.459000	0.35465	TCC	PSD4	-	NULL	ENSG00000125637		0.622	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1		0.00	25	0	T	NM_012455		113958885	+1			no_errors	ENST00000245796	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.918	C
PTPN1	5770	genome.wustl.edu	37	20	49195059	49195059	+	Nonsense_Mutation	SNP	C	C	T	rs370578341		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:49195059C>T	ENST00000371621.3	+	6	769	c.595C>T	c.(595-597)Cga>Tga	p.R199*	PTPN1_ENST00000541713.1_Nonsense_Mutation_p.R126*|RP4-530I15.9_ENST00000431019.1_RNA	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	199	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	TTTCAAAGTCCGAGAGTCAGG	0.532																																																	0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	136.0	134.0		595	3.3	1.0	20		134	0,8600		0,0,4300	no	stop-gained	PTPN1	NM_002827.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		199/436	49195059	1,13005	2203	4300	6503	SO:0001587	stop_gained	0				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.595C>T	20.37:g.49195059C>T	ENSP00000360683:p.Arg199*		Q5TGD8|Q9BQV9|Q9NQQ4	Nonsense_Mutation	SNP	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R199*	ENST00000371621.3	37	c.595	CCDS13430.1	20	.	.	.	.	.	.	.	.	.	.	C	38	6.915953	0.97932	2.27E-4	0.0	ENSG00000196396	ENST00000371621;ENST00000541713	.	.	.	5.24	3.29	0.37713	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5777	0.27946	0.1855:0.6734:0.0:0.1411	.	.	.	.	X	199;126	.	ENSP00000360683:R199X	R	+	1	2	PTPN1	48628466	0.993000	0.37304	0.970000	0.41538	0.934000	0.57294	1.190000	0.32126	1.212000	0.43366	0.462000	0.41574	CGA	PTPN1	-	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000196396		0.532	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN1	HGNC	protein_coding	OTTHUMT00000079694.2	-	0.00	42	0	C			49195059	+1	tier1	-	no_errors	ENST00000371621	ensembl	human	known	74_37	nonsense	8.22	67	6	SNP	0.969	T
RASGRF2	5924	genome.wustl.edu	37	5	80382767	80382767	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr5:80382767G>A	ENST00000265080.4	+	9	1452	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	462					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACGTTCATCCGCCAAGGTAAG	0.547																																																	0													131.0	117.0	122.0					5																	80382767		2203	4300	6503	SO:0001583	missense	0			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1385G>A	5.37:g.80382767G>A	ENSP00000265080:p.Arg462His		B9EG89|Q9UK56	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R462H	ENST00000265080.4	37	c.1385	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.547429	0.96488	.	.	ENSG00000113319	ENST00000265080	T	0.31510	1.49	5.72	5.72	0.89469	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.69654	0.965;0.929	T	0.63726	-0.6572	10	0.87932	D	0	.	19.8765	0.96875	0.0:0.0:1.0:0.0	.	462;462	D6RAS9;O14827	.;RGRF2_HUMAN	H	462	ENSP00000265080:R462H	ENSP00000265080:R462H	R	+	2	0	RASGRF2	80418523	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.695000	0.91970	0.650000	0.86243	CGC	RASGRF2	-	smart_Pleckstrin_homology	ENSG00000113319		0.547	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	-	0.00	46	0	G	NM_006909		80382767	+1	tier1	-	no_errors	ENST00000265080	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	A
RIPK4	54101	genome.wustl.edu	37	21	43171399	43171399	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr21:43171399C>A	ENST00000352483.2	-	3	545	c.481G>T	c.(481-483)Gat>Tat	p.D161Y	RIPK4_ENST00000332512.3_Missense_Mutation_p.D161Y|RIPK4_ENST00000544709.1_Missense_Mutation_p.D98Y|RIPK4_ENST00000542057.1_Missense_Mutation_p.D98Y			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGACCAAAATCAGAAATCTGC	0.517																																																	0													115.0	104.0	108.0					21																	43171399		2203	4300	6503	SO:0001583	missense	0			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.481G>T	21.37:g.43171399C>A	ENSP00000330161:p.Asp161Tyr		Q96KH0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D161Y	ENST00000352483.2	37	c.481		21	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858235	0.71834	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000017	D	0.98273	0.9428	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99858	1.1079	10	0.87932	D	0	-34.4007	16.3904	0.83533	0.0:1.0:0.0:0.0	.	161	P57078-2	.	Y	161;161;98;98	ENSP00000332454:D161Y;ENSP00000330161:D161Y;ENSP00000441754:D98Y;ENSP00000442901:D98Y	ENSP00000332454:D161Y	D	-	1	0	RIPK4	42044468	1.000000	0.71417	0.970000	0.41538	0.656000	0.38851	7.241000	0.78201	2.088000	0.63022	0.561000	0.74099	GAT	RIPK4	-	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	ENSG00000183421		0.517	RIPK4-201	KNOWN	basic	protein_coding	RIPK4	HGNC	protein_coding		-	0.00	53	0	C	NM_020639		43171399	-1	tier1	-	no_errors	ENST00000352483	ensembl	human	known	74_37	missense	45.76	32	27	SNP	1.000	A
RPS14	6208	genome.wustl.edu	37	5	149827255	149827255	+	Silent	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr5:149827255G>T	ENST00000401695.3	-	2	88	c.42C>A	c.(40-42)gtC>gtA	p.V14V	RPS14_ENST00000407193.1_Silent_p.V14V|RPS14_ENST00000312037.5_Silent_p.V14V			P62263	RS14_HUMAN	ribosomal protein S14	14					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGGCTGATGACCTGTTCTT	0.438																																																	0													137.0	120.0	126.0					5																	149827255		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"""S ribosomal proteins"""	10387	protein-coding gene	gene with protein product	"""emetine resistance"", ""40S ribosomal protein S14"""	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.42C>A	5.37:g.149827255G>T			B2R5G5|D3DQG5|P06366|Q5BJI0	Silent	SNP	pfam_Ribosomal_S11,pirsf_Ribosomal_S11	p.V14	ENST00000401695.3	37	c.42	CCDS4307.1	5																																																																																			RPS14	-	pirsf_Ribosomal_S11	ENSG00000164587		0.438	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS14	HGNC	protein_coding	OTTHUMT00000252373.1	-	0.00	54	0	G	NM_001025071		149827255	-1	tier1	-	no_errors	ENST00000312037	ensembl	human	known	74_37	silent	37.78	28	17	SNP	1.000	T
SCNM1	79005	genome.wustl.edu	37	1	151139087	151139087	+	Intron	SNP	T	T	C			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:151139087T>C	ENST00000368905.4	+	2	233				LYSMD1_ENST00000368908.5_5'Flank|SCNM1_ENST00000461862.1_Intron|LYSMD1_ENST00000440902.2_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			tttttttttttcctttgagac	0.542																																																	0																																										SO:0001627	intron_variant	0			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.122+70T>C	1.37:g.151139087T>C			B4DWR1|Q5JR74	RNA	SNP	-	NULL	ENST00000368905.4	37	NULL	CCDS987.1	1																																																																																			SCNM1	-	-	ENSG00000163156		0.542	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SCNM1	HGNC	protein_coding	OTTHUMT00000034064.2	-	0.00	18	0	T	NM_024041		151139087	+1	tier1	-	no_errors	ENST00000471039	ensembl	human	putative	74_37	rna	20.00	16	4	SNP	0.028	C
SEL1L2	80343	genome.wustl.edu	37	20	13867034	13867034	+	Missense_Mutation	SNP	G	G	T	rs139504161	byFrequency	TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:13867034G>T	ENST00000284951.5	-	9	874	c.800C>A	c.(799-801)aCg>aAg	p.T267K	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.T267K			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	267						integral component of membrane (GO:0016021)		p.T267M(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGGTCTTTCCGTTAGTCTCAC	0.373																																																	1	Substitution - Missense(1)	ovary(1)											131.0	120.0	123.0					20																	13867034		1837	4095	5932	SO:0001583	missense	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.800C>A	20.37:g.13867034G>T	ENSP00000284951:p.Thr267Lys		B4DXX5	Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.T267K	ENST00000284951.5	37	c.800		20	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543456	0.65198	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.23147	1.92;2.25	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000003	T	0.27594	0.0678	N	0.22421	0.69	0.42859	D	0.994108	B;D	0.58970	0.105;0.984	B;P	0.51999	0.052;0.687	T	0.01198	-1.1421	10	0.28530	T	0.3	-15.1749	15.5171	0.75833	0.0:0.0:1.0:0.0	.	267;267	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	K	267	ENSP00000367312:T267K;ENSP00000284951:T267K	ENSP00000284951:T267K	T	-	2	0	SEL1L2	13815034	0.994000	0.37717	1.000000	0.80357	0.953000	0.61014	2.855000	0.48333	2.732000	0.93576	0.555000	0.69702	ACG	SEL1L2	-	NULL	ENSG00000101251		0.373	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3		0.00	53	0	G	NM_025229		13867034	-1			no_errors	ENST00000284951	ensembl	human	known	74_37	missense	6.67	55	4	SNP	0.999	T
SENP6	26054	genome.wustl.edu	37	6	76412676	76412676	+	Silent	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr6:76412676G>T	ENST00000447266.2	+	19	3082	c.2604G>T	c.(2602-2604)gcG>gcT	p.A868A	SENP6_ENST00000370010.2_Silent_p.A861A|SENP6_ENST00000370014.3_Silent_p.A868A|SENP6_ENST00000541192.1_Intron	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	868	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCATACTGCGAGTGAAAATG	0.358																																																	0													134.0	134.0	134.0					6																	76412676		1836	4090	5926	SO:0001819	synonymous_variant	0				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2604G>T	6.37:g.76412676G>T			A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.A868	ENST00000447266.2	37	c.2604	CCDS47454.1	6																																																																																			SENP6	-	pfscan_Peptidase_C48	ENSG00000112701		0.358	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2		0.00	21	0	G	NM_015571		76412676	+1			no_errors	ENST00000370014	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.160	T
SERINC3	10955	genome.wustl.edu	37	20	43142614	43142614	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:43142614G>A	ENST00000342374.4	-	2	264	c.107C>T	c.(106-108)aCg>aTg	p.T36M	SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000541235.1_De_novo_Start_InFrame|SERINC3_ENST00000255175.1_Missense_Mutation_p.T36M	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	36					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GCGAGTCACCGTGGAATTCTT	0.473																																																	0													204.0	174.0	184.0					20																	43142614		2203	4300	6503	SO:0001583	missense	0			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.107C>T	20.37:g.43142614G>A	ENSP00000340243:p.Thr36Met		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	pfam_TMS_TDE	p.T36M	ENST00000342374.4	37	c.107	CCDS13333.1	20	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261271	0.59431	.	.	ENSG00000132824	ENST00000255175;ENST00000342374	T;T	0.15139	2.45;2.45	5.34	4.39	0.52855	.	0.157390	0.56097	D	0.000039	T	0.34106	0.0886	M	0.67700	2.07	0.80722	D	1	D;D	0.69078	0.997;0.974	P;P	0.62649	0.905;0.627	T	0.04229	-1.0967	10	0.34782	T	0.22	.	11.4073	0.49904	0.1458:0.0:0.8542:0.0	.	36;36	Q53GK8;Q13530	.;SERC3_HUMAN	M	36	ENSP00000255175:T36M;ENSP00000340243:T36M	ENSP00000255175:T36M	T	-	2	0	SERINC3	42576028	1.000000	0.71417	0.845000	0.33349	0.226000	0.24999	7.873000	0.87193	1.376000	0.46267	-0.251000	0.11542	ACG	SERINC3	-	pfam_TMS_TDE	ENSG00000132824		0.473	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	HGNC	protein_coding	OTTHUMT00000080544.3	-	0.00	64	0	G	NM_006811		43142614	-1	tier1	-	no_errors	ENST00000255175	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.997	A
SGIP1	84251	genome.wustl.edu	37	1	67109411	67109412	+	Intron	DEL	TG	TG	-	rs373027734		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:67109411_67109412delTG	ENST00000371037.4	+	7	536				SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000468286.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1						endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGGTGAGTGTTGTGTGTGTGTG	0.406																																																	0										22,2,614,3618		0,0,17,5,0,0,2,39,519,1546						-0.3	0.5		dbSNP_134	143	22,6,1104,7114		0,0,15,7,0,0,6,48,993,3054	no	intron	SGIP1	NM_032291.2		0,0,32,12,0,0,8,87,1512,4600	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		13.7279,14.9906,14.1577				44,8,1718,10732				SO:0001627	intron_variant	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.459+9TG>-	1.37:g.67109421_67109422delTG			A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	RNA	DEL	-	NULL	ENST00000371037.4	37	NULL	CCDS30744.1	1																																																																																			SGIP1	-	-	ENSG00000118473		0.406	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4		0.00	52	0	TG	NM_032291		67109412	+1	tier1		no_errors	ENST00000483060	ensembl	human	known	74_37	rna	7.14	26	2	DEL	0.058:0.051	-
SH3YL1	26751	genome.wustl.edu	37	2	262569	262569	+	Intron	SNP	T	T	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr2:262569T>A	ENST00000405430.1	-	3	378				SH3YL1_ENST00000403658.1_Intron|SH3YL1_ENST00000403657.1_5'Flank|ACP1_ENST00000439645.2_5'Flank|SH3YL1_ENST00000402632.1_Intron|SH3YL1_ENST00000403712.2_Intron|ACP1_ENST00000405233.1_5'Flank|ACP1_ENST00000272065.5_5'Flank|ACP1_ENST00000272067.6_5'Flank|ACP1_ENST00000407983.3_5'Flank|SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000356150.5_Intron			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1						phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)			large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		AAAATTTTTTTAAAAACTTCA	0.433																																																	0																																										SO:0001627	intron_variant	0				CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"""SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"""			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.1+61A>T	2.37:g.262569T>A			A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	RNA	SNP	-	NULL	ENST00000405430.1	37	NULL		2																																																																																			SH3YL1	-	-	ENSG00000035115		0.433	SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SH3YL1	HGNC	protein_coding	OTTHUMT00000322352.1	-	0.00	40	0	T	NM_015677		262569	-1	tier1	-	no_errors	ENST00000468321	ensembl	human	known	74_37	rna	25.93	20	7	SNP	0.000	A
SLC37A2	219855	genome.wustl.edu	37	11	124950542	124950542	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:124950542A>C	ENST00000403796.2	+	7	861	c.560A>C	c.(559-561)cAc>cCc	p.H187P	SLC37A2_ENST00000298280.5_Missense_Mutation_p.H187P|SLC37A2_ENST00000308074.4_Missense_Mutation_p.H187P|SLC37A2_ENST00000407458.1_Missense_Mutation_p.H187P	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	187					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TGGAATTCCCACACATCTGTG	0.542																																					Melanoma(11;373 620 21213 26083 47768)												0													81.0	76.0	78.0					11																	124950542		2201	4299	6500	SO:0001583	missense	0			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.560A>C	11.37:g.124950542A>C	ENSP00000384407:p.His187Pro		A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.H187P	ENST00000403796.2	37	c.560	CCDS44757.1	11	.	.	.	.	.	.	.	.	.	.	A	26.2	4.715432	0.89112	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000532000;ENST00000308074	T;T;T;T;T	0.67345	0.39;0.39;0.39;-0.26;0.39	5.08	5.08	0.68730	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.86251	0.5888	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.995	D	0.89533	0.3787	10	0.54805	T	0.06	-27.8879	15.0064	0.71516	1.0:0.0:0.0:0.0	.	187;187	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	P	187;187;187;150;187	ENSP00000384407:H187P;ENSP00000385126:H187P;ENSP00000298280:H187P;ENSP00000432254:H150P;ENSP00000311833:H187P	ENSP00000298280:H187P	H	+	2	0	SLC37A2	124455752	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.109000	0.94291	2.144000	0.66660	0.460000	0.39030	CAC	SLC37A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000134955		0.542	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC37A2	HGNC	protein_coding	OTTHUMT00000386837.1	-	0.00	56	0	A	XM_166184		124950542	+1	tier1	-	no_errors	ENST00000308074	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	C
SLC7A5	8140	genome.wustl.edu	37	16	87868078	87868078	+	Silent	SNP	G	G	C			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:87868078G>C	ENST00000261622.4	-	9	1475	c.1410C>G	c.(1408-1410)ccC>ccG	p.P470P	SLC7A5_ENST00000565644.1_Silent_p.P204P|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	470					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	AGAAGTAGACGGGCAGCCCGC	0.602																																																	0													49.0	41.0	44.0					16																	87868078		2187	4285	6472	SO:0001819	synonymous_variant	0			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1410C>G	16.37:g.87868078G>C			Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.P470	ENST00000261622.4	37	c.1410	CCDS10964.1	16																																																																																			SLC7A5	-	pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	ENSG00000103257		0.602	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A5	HGNC	protein_coding	OTTHUMT00000269110.2	-	0.00	64	0	G	NM_003486		87868078	-1	tier1	-	no_errors	ENST00000261622	ensembl	human	known	74_37	silent	25.00	51	17	SNP	0.019	C
SLC9A8	23315	genome.wustl.edu	37	20	48467300	48467301	+	Intron	INS	-	-	T	rs564652819		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:48467300_48467301insT	ENST00000361573.2	+	7	576				SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000417961.1_Splice_Site_p.GF179fs|SLC9A8_ENST00000541138.1_Intron			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8						ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GTTCTCCAGGGTTTTTTTTTTG	0.337																																																	0																																										SO:0001627	intron_variant	0			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.535-46->T	20.37:g.48467310_48467310dupT			B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Frame_Shift_Ins	INS	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F183fs	ENST00000361573.2	37	c.536_537	CCDS13421.1	20																																																																																			SLC9A8	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000197818		0.337	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A8	HGNC	protein_coding	OTTHUMT00000106483.3		0.00	14	0	-	XM_030524		48467301	+1	tier1		no_errors	ENST00000417961	ensembl	human	known	74_37	frame_shift_ins	13.04	20	3	INS	0.284:0.189	T
SMG1	23049	genome.wustl.edu	37	16	18858815	18858815	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:18858815C>T	ENST00000446231.2	-	38	6368	c.5956G>A	c.(5956-5958)Gat>Aat	p.D1986N	SMG1_ENST00000389467.3_Missense_Mutation_p.D1986N			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1986					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCACCTCATCTTCAAGCTGC	0.473																																																	0													141.0	143.0	142.0					16																	18858815		2060	4214	6274	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5956G>A	16.37:g.18858815C>T	ENSP00000402515:p.Asp1986Asn		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.D1986N	ENST00000446231.2	37	c.5956	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944869	0.73672	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01119	5.31;5.31	5.66	5.66	0.87406	Armadillo-type fold (1);	0.083414	0.52532	D	0.000077	T	0.03739	0.0106	L	0.27053	0.805	0.51482	D	0.999929	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.984	T	0.69117	-0.5230	10	0.31617	T	0.26	.	19.7475	0.96257	0.0:1.0:0.0:0.0	.	1846;1986	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	N	1986	ENSP00000402515:D1986N;ENSP00000374118:D1986N	ENSP00000374118:D1986N	D	-	1	0	SMG1	18766316	1.000000	0.71417	0.961000	0.40146	0.954000	0.61252	7.783000	0.85696	2.667000	0.90743	0.591000	0.81541	GAT	SMG1	-	superfamily_ARM-type_fold	ENSG00000157106		0.473	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	-	0.00	38	0	C	NM_015092		18858815	-1	tier1	-	no_errors	ENST00000389467	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	T
MTCL1	23255	genome.wustl.edu	37	18	8825247	8825247	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr18:8825247C>T	ENST00000306329.11	+	13	4696	c.4696C>T	c.(4696-4698)Cgg>Tgg	p.R1566W	SOGA2_ENST00000359865.3_Missense_Mutation_p.R1247W|SOGA2_ENST00000306285.7_Missense_Mutation_p.R572W|SOGA2_ENST00000518815.1_Missense_Mutation_p.R572W|SOGA2_ENST00000517570.1_Missense_Mutation_p.R1206W|SOGA2_ENST00000400050.3_Missense_Mutation_p.R1206W																							CAGGCACTCCCGGGACTATGT	0.642																																																	0																																										SO:0001583	missense	0																														ENST00000306329.11:c.4696C>T	18.37:g.8825247C>T	ENSP00000305027:p.Arg1566Trp			Missense_Mutation	SNP	pfam_SOGA	p.R1247W	ENST00000306329.11	37	c.3739		18	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768797	0.31320	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.34072	2.4;2.4;2.4;1.38	5.24	3.2	0.36748	.	0.000000	0.37809	N	0.001927	T	0.52964	0.1767	M	0.63843	1.955	0.28222	N	0.926485	D;D	0.89917	1.0;1.0	D;D	0.69479	0.913;0.964	T	0.48980	-0.8986	10	0.72032	D	0.01	-12.7512	11.546	0.50694	0.6151:0.3849:0.0:0.0	.	1557;1247	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	W	1268;1206;1247;1206;572	ENSP00000429556:R1206W;ENSP00000352927:R1247W;ENSP00000382924:R1206W;ENSP00000303670:R572W	ENSP00000303670:R572W	R	+	1	2	CCDC165	8815247	1.000000	0.71417	0.999000	0.59377	0.032000	0.12392	3.045000	0.49838	1.166000	0.42689	0.655000	0.94253	CGG	SOGA2	-	NULL	ENSG00000168502		0.642	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	-	0.00	49	0	C			8825247	+1	tier1	-	no_errors	ENST00000359865	ensembl	human	known	74_37	missense	26.47	50	18	SNP	1.000	T
SOX30	11063	genome.wustl.edu	37	5	157075856	157075856	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr5:157075856C>T	ENST00000265007.6	-	2	1357	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	SOX30_ENST00000519442.1_Missense_Mutation_p.R34Q|SOX30_ENST00000311371.5_Missense_Mutation_p.R339Q	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	339					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTCATGGGTCGCTTCACATG	0.458																																					Esophageal Squamous(31;525 799 19355 21125 41744)												0													168.0	148.0	155.0					5																	157075856		2203	4300	6503	SO:0001583	missense	0			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1016G>A	5.37:g.157075856C>T	ENSP00000265007:p.Arg339Gln		O94995|Q8IYX6	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R339Q	ENST00000265007.6	37	c.1016	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.194808	0.94960	.	.	ENSG00000039600	ENST00000311371;ENST00000265007;ENST00000519442	D;D;D	0.99298	-5.71;-5.71;-5.71	5.72	5.72	0.89469	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000015	D	0.99548	0.9838	M	0.90309	3.105	0.48395	D	0.999649	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.98479	1.0604	10	0.87932	D	0	.	19.8724	0.96855	0.0:1.0:0.0:0.0	.	34;339;339	B4DXW7;O94993-2;O94993	.;.;SOX30_HUMAN	Q	339;339;34	ENSP00000309343:R339Q;ENSP00000265007:R339Q;ENSP00000427984:R34Q	ENSP00000265007:R339Q	R	-	2	0	SOX30	157008434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.448000	0.73469	2.694000	0.91930	0.555000	0.69702	CGA	SOX30	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000039600		0.458	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	HGNC	protein_coding	OTTHUMT00000252571.2	-	0.00	69	0	C	NM_007017		157075856	-1	tier1	-	no_errors	ENST00000265007	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
RP11-383M4.6	0	genome.wustl.edu	37	9	84562614	84562614	+	lincRNA	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr9:84562614G>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							TGATTCAGGGGTGAGACTAGG	0.458																																																	0													15.0	14.0	14.0					9																	84562614		690	1583	2273			0																															9.37:g.84562614G>A				RNA	SNP	-	NULL	ENST00000585776.1	37	NULL		9																																																																																			SPATA31D3	-	-	ENSG00000186788		0.458	RP11-383M4.6-001	KNOWN	basic	lincRNA	SPATA31D3	HGNC	lincRNA	OTTHUMT00000453562.1		0.00	47	0	G			84562614	+1			no_errors	ENST00000334208	ensembl	human	known	74_37	rna	8.33	33	3	SNP	0.001	A
SPEF2	79925	genome.wustl.edu	37	5	35695845	35695845	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr5:35695845G>T	ENST00000356031.3	+	14	2138	c.1984G>T	c.(1984-1986)Gct>Tct	p.A662S	SPEF2_ENST00000509059.1_Missense_Mutation_p.A657S|SPEF2_ENST00000440995.2_Missense_Mutation_p.A657S|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	662					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGTGCTAATGCTGATAAAAC	0.323																																																	0													122.0	111.0	114.0					5																	35695845		1838	4092	5930	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1984G>T	5.37:g.35695845G>T	ENSP00000348314:p.Ala662Ser		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.A662S	ENST00000356031.3	37	c.1984	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	0.905	-0.721016	0.03182	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.29142	3.38;3.32;3.46;1.58	4.89	-1.56	0.08532	.	1.105250	0.06829	N	0.793692	T	0.12008	0.0292	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.33420	-0.9869	10	0.08381	T	0.77	.	9.0452	0.36343	0.5249:0.0:0.4751:0.0	.	657;657;662	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	S	662;657;657;168	ENSP00000348314:A662S;ENSP00000421593:A657S;ENSP00000412125:A657S;ENSP00000421744:A168S	ENSP00000348314:A662S	A	+	1	0	SPEF2	35731602	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.065000	0.14466	-0.351000	0.08249	-0.302000	0.09304	GCT	SPEF2	-	superfamily_P-loop_NTPase	ENSG00000152582		0.323	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0.00	66	0	G	NM_144722		35695845	+1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.000	T
SPG21	51324	genome.wustl.edu	37	15	65267023	65267023	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr15:65267023G>T	ENST00000204566.2	-	5	664	c.369C>A	c.(367-369)caC>caA	p.H123Q	SPG21_ENST00000416889.2_Missense_Mutation_p.H96Q|SPG21_ENST00000560564.1_5'UTR|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000433215.2_Missense_Mutation_p.H123Q	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	123					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TAGGAGATTTGTGAGTGTATT	0.383																																																	0													105.0	110.0	108.0					15																	65267023		2202	4299	6501	SO:0001583	missense	0			AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.369C>A	15.37:g.65267023G>T	ENSP00000204566:p.His123Gln		B4DW44|Q6ZMB6	Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.H123Q	ENST00000204566.2	37	c.369	CCDS10198.1	15	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915412	0.52546	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T;T	0.66460	1.62;-0.21;1.62	6.16	5.25	0.73442	.	0.043354	0.85682	D	0.000000	T	0.58807	0.2148	L	0.43152	1.355	0.80722	D	1	B;B	0.25206	0.12;0.087	B;B	0.29942	0.066;0.109	T	0.53676	-0.8405	10	0.12103	T	0.63	-17.5293	14.5026	0.67732	0.0706:0.0:0.9294:0.0	.	96;123	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	Q	123;96;123	ENSP00000204566:H123Q;ENSP00000394846:H96Q;ENSP00000404111:H123Q	ENSP00000204566:H123Q	H	-	3	2	SPG21	63054076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.857000	0.86963	1.623000	0.50342	0.650000	0.86243	CAC	SPG21	-	pfam_AB_hydrolase_1	ENSG00000090487		0.383	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG21	HGNC	protein_coding	OTTHUMT00000256758.3	-	0.00	30	0	G	NM_016630		65267023	-1	tier1	-	no_errors	ENST00000204566	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	T
TBC1D10B	26000	genome.wustl.edu	37	16	30370527	30370527	+	Silent	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:30370527C>T	ENST00000409939.3	-	7	1688	c.1608G>A	c.(1606-1608)tcG>tcA	p.S536S	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	536	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CACGCAGCACCGACGCCCAGG	0.627																																																	0													31.0	28.0	29.0					16																	30370527		2197	4297	6494	SO:0001819	synonymous_variant	0			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1608G>A	16.37:g.30370527C>T			B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S536	ENST00000409939.3	37	c.1608	CCDS10676.2	16																																																																																			TBC1D10B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000169221		0.627	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	HGNC	protein_coding	OTTHUMT00000255527.3	-	0.00	30	0	C	NM_015527		30370527	-1	tier1	-	no_errors	ENST00000409939	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.797	T
TENC1	23371	genome.wustl.edu	37	12	53453482	53453482	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:53453482C>A	ENST00000314250.6	+	18	2347	c.2057C>A	c.(2056-2058)gCc>gAc	p.A686D	TENC1_ENST00000552570.1_Missense_Mutation_p.A686D|TENC1_ENST00000549700.1_Missense_Mutation_p.A686D|TENC1_ENST00000314276.3_Missense_Mutation_p.A696D|TENC1_ENST00000379902.3_Missense_Mutation_p.A562D|TENC1_ENST00000546602.1_Missense_Mutation_p.A686D|TENC1_ENST00000451358.1_Missense_Mutation_p.A686D	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	686					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGGCTGCCTGCCCTATACCCA	0.652																																																	0													42.0	42.0	42.0					12																	53453482		2203	4300	6503	SO:0001583	missense	0			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2057C>A	12.37:g.53453482C>A	ENSP00000319684:p.Ala686Asp		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.A696D	ENST00000314250.6	37	c.2087	CCDS8843.1	12	.	.	.	.	.	.	.	.	.	.	C	4.788	0.146523	0.09134	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.95238	-3.59;-3.59;-3.59;-3.6;-3.65;-3.59;-3.59	4.54	3.65	0.41850	.	0.940200	0.09041	N	0.857388	D	0.89111	0.6622	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.25609	0.039;0.13;0.023;0.13	B;B;B;B	0.29524	0.044;0.044;0.02;0.103	T	0.79303	-0.1859	10	0.27082	T	0.32	.	8.9748	0.35928	0.0:0.8972:0.0:0.1028	.	686;686;686;696	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	D	562;696;686;686;686;686;686	ENSP00000369232:A562D;ENSP00000319756:A696D;ENSP00000319684:A686D;ENSP00000393362:A686D;ENSP00000449363:A686D;ENSP00000447021:A686D;ENSP00000449361:A686D	ENSP00000319684:A686D	A	+	2	0	TENC1	51739749	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	1.792000	0.38754	1.273000	0.44346	0.563000	0.77884	GCC	TENC1	-	NULL	ENSG00000111077		0.652	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	-	0.00	47	0	C	NM_170754		53453482	+1	tier1	-	no_errors	ENST00000314276	ensembl	human	known	74_37	missense	14.49	59	10	SNP	0.006	A
TEX10	54881	genome.wustl.edu	37	9	103092356	103092356	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr9:103092356G>T	ENST00000374902.4	-	6	1522	c.1346C>A	c.(1345-1347)aCt>aAt	p.T449N	TEX10_ENST00000537512.1_Missense_Mutation_p.T384N|TEX10_ENST00000535814.1_Missense_Mutation_p.T452N	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	449						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CTTCTGCAAAGTTGACGCATT	0.393																																																	0													142.0	133.0	136.0					9																	103092356		2203	4300	6503	SO:0001583	missense	0			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1346C>A	9.37:g.103092356G>T	ENSP00000364037:p.Thr449Asn		B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.T449N	ENST00000374902.4	37	c.1346	CCDS6748.1	9	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960364	0.74016	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235;ENST00000537512	.	.	.	5.18	5.18	0.71444	Armadillo-type fold (1);	0.440966	0.26574	N	0.023610	T	0.66336	0.2779	L	0.29908	0.895	0.45946	D	0.998772	P;D;D;P	0.89917	0.895;0.994;1.0;0.956	B;P;D;P	0.85130	0.43;0.795;0.997;0.527	T	0.61510	-0.7048	9	0.25106	T	0.35	-11.9562	19.0747	0.93156	0.0:0.0:1.0:0.0	.	384;452;317;449	B7Z9D5;B4DYV2;E7ERG2;Q9NXF1	.;.;.;TEX10_HUMAN	N	452;449;317;94;384	.	ENSP00000364037:T449N	T	-	2	0	TEX10	102132177	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.462000	0.80851	2.575000	0.86900	0.655000	0.94253	ACT	TEX10	-	superfamily_ARM-type_fold	ENSG00000136891		0.393	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	-	0.00	77	0	G	NM_017746		103092356	-1	tier1	-	no_errors	ENST00000374902	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
TFPI	7035	genome.wustl.edu	37	2	188348894	188348894	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr2:188348894A>T	ENST00000233156.3	-	6	879	c.585T>A	c.(583-585)aaT>aaA	p.N195K	TFPI_ENST00000339091.4_Missense_Mutation_p.N195K|TFPI_ENST00000392365.1_Missense_Mutation_p.N195K|TFPI_ENST00000409676.1_Missense_Mutation_p.N195K|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	195					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TCAGGGAGTTATTCACAGCAT	0.378																																																	0													111.0	112.0	112.0					2																	188348894		2203	4300	6503	SO:0001583	missense	0				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.585T>A	2.37:g.188348894A>T	ENSP00000233156:p.Asn195Lys		O95103|Q53TS4	Missense_Mutation	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.N195K	ENST00000233156.3	37	c.585	CCDS2294.1	2	.	.	.	.	.	.	.	.	.	.	A	15.73	2.919790	0.52653	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091	T;T;T;T;T;T	0.64991	0.51;0.51;0.36;-0.1;-0.13;-0.13	5.11	0.105	0.14535	.	1.050840	0.07304	N	0.874672	T	0.58090	0.2098	M	0.64997	1.995	0.09310	N	1	D;D	0.56521	0.976;0.967	P;P	0.47573	0.509;0.55	T	0.47446	-0.9117	10	0.07325	T	0.83	.	7.4728	0.27359	0.6385:0.0:0.3615:0.0	.	195;195	P10646-2;P10646	.;TFPI1_HUMAN	K	195;195;195;182;195;195	ENSP00000376172:N195K;ENSP00000233156:N195K;ENSP00000397248:N195K;ENSP00000409177:N182K;ENSP00000386344:N195K;ENSP00000342306:N195K	ENSP00000233156:N195K	N	-	3	2	TFPI	188057139	0.171000	0.23029	0.001000	0.08648	0.004000	0.04260	-0.109000	0.10840	-0.048000	0.13401	-0.256000	0.11100	AAT	TFPI	-	pirsf_Prot_inhib_I2_TFPI	ENSG00000003436		0.378	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI	HGNC	protein_coding	OTTHUMT00000255881.1	-	0.00	32	0	A	NM_006287		188348894	-1	tier1	-	no_errors	ENST00000233156	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.003	T
TLR2	7097	genome.wustl.edu	37	4	154625944	154625944	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr4:154625944A>G	ENST00000260010.6	+	1	3293	c.1885A>G	c.(1885-1887)Agg>Ggg	p.R629G		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	629					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CCAGGCCAAAAGGAAGCCCAG	0.542																																																	0													37.0	36.0	36.0					4																	154625944		2203	4300	6503	SO:0001583	missense	0			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1885A>G	4.37:g.154625944A>G	ENSP00000260010:p.Arg629Gly		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.R629G	ENST00000260010.6	37	c.1885	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	A	13.04	2.119565	0.37436	.	.	ENSG00000137462	ENST00000260010	T	0.33438	1.41	5.65	3.16	0.36331	.	0.055790	0.64402	D	0.000001	T	0.58836	0.2150	M	0.88640	2.97	0.42933	D	0.994328	D	0.62365	0.991	D	0.65684	0.937	T	0.66838	-0.5822	10	0.87932	D	0	.	13.6794	0.62474	0.5497:0.4503:0.0:0.0	.	629	O60603	TLR2_HUMAN	G	629	ENSP00000260010:R629G	ENSP00000260010:R629G	R	+	1	2	TLR2	154845394	0.687000	0.27671	0.837000	0.33122	0.901000	0.52897	1.100000	0.31025	0.401000	0.25424	0.533000	0.62120	AGG	TLR2	-	pirsf_Toll-like_receptor	ENSG00000137462		0.542	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1	-	0.00	64	0	A			154625944	+1	tier1	-	no_errors	ENST00000260010	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.912	G
TM9SF1	10548	genome.wustl.edu	37	14	24661561	24661561	+	Splice_Site	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr14:24661561G>T	ENST00000261789.4	-	4	1327	c.969C>A	c.(967-969)ggC>ggA	p.G323G	TM9SF1_ENST00000530611.1_Splice_Site_p.G532G|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000524835.1_Splice_Site_p.G236G|TM9SF1_ENST00000556387.1_Splice_Site_p.G532G|TM9SF1_ENST00000396854.4_Splice_Site_p.G323G|TM9SF1_ENST00000528669.1_Splice_Site_p.G323G	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	323					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TGACAATAATGCCTGCAGGAC	0.552																																																	0													70.0	58.0	62.0					14																	24661561		2203	4300	6503	SO:0001630	splice_region_variant	0			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.968-1C>A	14.37:g.24661561G>T			D3DS65|Q86SZ6|Q96FI8	Silent	SNP	pfam_EMP70,pfam_Snf7	p.G532	ENST00000261789.4	37	c.1596	CCDS9617.1	14																																																																																			TM9SF1	-	pfam_EMP70	ENSG00000100926		0.552	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	TM9SF1	HGNC	protein_coding	OTTHUMT00000073136.2	-	0.00	59	0	G	NM_006405	Silent	24661561	-1	tier1	-	no_errors	ENST00000556387	ensembl	human	known	74_37	silent	7.41	50	4	SNP	1.000	T
TMEM132C	92293	genome.wustl.edu	37	12	129153998	129153998	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr12:129153998A>G	ENST00000435159.2	+	5	1342	c.1342A>G	c.(1342-1344)Aag>Gag	p.K448E	AC107020.1_ENST00000408822.1_RNA|TMEM132C_ENST00000315208.8_Missense_Mutation_p.K64E	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	448						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						ACTCACAGGAAAGACAGTTGC	0.502																																																	0													111.0	100.0	104.0					12																	129153998		692	1591	2283	SO:0001583	missense	0			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.1342A>G	12.37:g.129153998A>G	ENSP00000410852:p.Lys448Glu		Q69YX8	Missense_Mutation	SNP	NULL	p.K448E	ENST00000435159.2	37	c.1342		12	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115100	0.56505	.	.	ENSG00000181234	ENST00000435159;ENST00000315208	T;T	0.19938	2.11;2.11	5.01	5.01	0.66863	.	0.096682	0.42548	D	0.000685	T	0.40040	0.1101	M	0.64260	1.97	0.36635	D	0.876506	D	0.62365	0.991	D	0.63877	0.919	T	0.42832	-0.9428	10	0.30854	T	0.27	.	14.3979	0.67022	1.0:0.0:0.0:0.0	.	448	Q8N3T6	T132C_HUMAN	E	448;64	ENSP00000410852:K448E;ENSP00000324458:K64E	ENSP00000324458:K64E	K	+	1	0	TMEM132C	127719951	0.989000	0.36119	0.694000	0.30210	0.240000	0.25518	3.378000	0.52432	1.874000	0.54306	0.533000	0.62120	AAG	TMEM132C	-	NULL	ENSG00000181234		0.502	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		-	0.00	74	0	A	XM_044062		129153998	+1	tier1	-	no_errors	ENST00000435159	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.981	G
TMF1	7110	genome.wustl.edu	37	3	69088134	69088134	+	Silent	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr3:69088134C>T	ENST00000398559.2	-	7	2070	c.1854G>A	c.(1852-1854)gaG>gaA	p.E618E	CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000543976.1_Silent_p.E621E			P82094	TMF1_HUMAN	TATA element modulatory factor 1	618					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TATGTTGTTTCTCAACCTCTT	0.333																																																	0													120.0	107.0	111.0					3																	69088134		1817	4065	5882	SO:0001819	synonymous_variant	0				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1854G>A	3.37:g.69088134C>T			B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.E621	ENST00000398559.2	37	c.1863	CCDS43105.1	3																																																																																			TMF1	-	NULL	ENSG00000144747		0.333	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	-	0.00	35	0	C	NM_007114		69088134	-1	tier1	-	no_errors	ENST00000543976	ensembl	human	known	74_37	silent	18.18	18	4	SNP	1.000	T
TMOD3	29766	genome.wustl.edu	37	15	52179895	52179895	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr15:52179895G>T	ENST00000308580.7	+	4	674	c.393G>T	c.(391-393)ttG>ttT	p.L131F	TMOD3_ENST00000544199.1_Missense_Mutation_p.L131F|RP11-56B16.5_ENST00000558142.1_RNA	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	131						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		ATACAGAATTGTGTGACCTCG	0.378																																					Colon(122;1837 2251 18387 22826)												0													61.0	63.0	62.0					15																	52179895		2195	4293	6488	SO:0001583	missense	0			AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.393G>T	15.37:g.52179895G>T	ENSP00000308753:p.Leu131Phe		B2R6G7|Q9NT43|Q9NZR0	Missense_Mutation	SNP	pfam_Tropomodulin	p.L131F	ENST00000308580.7	37	c.393	CCDS10145.1	15	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012052	0.75046	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	T;T	0.42131	0.98;0.98	5.6	3.73	0.42828	.	0.000000	0.64402	D	0.000001	T	0.62950	0.2470	M	0.85945	2.785	0.58432	D	0.999999	D	0.67145	0.996	D	0.72625	0.978	T	0.64343	-0.6430	10	0.72032	D	0.01	-8.2735	7.3244	0.26547	0.1885:0.0:0.688:0.1234	.	131	Q9NYL9	TMOD3_HUMAN	F	131	ENSP00000308753:L131F;ENSP00000438909:L131F	ENSP00000308753:L131F	L	+	3	2	TMOD3	49967187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.123000	0.50453	0.838000	0.34948	0.563000	0.77884	TTG	TMOD3	-	pfam_Tropomodulin	ENSG00000138594		0.378	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD3	HGNC	protein_coding	OTTHUMT00000254740.3	-	0.00	51	0	G			52179895	+1	tier1	-	no_errors	ENST00000308580	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
TMPRSS4	56649	genome.wustl.edu	37	11	117973848	117973848	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:117973848T>A	ENST00000437212.3	+	4	404	c.190T>A	c.(190-192)Tgc>Agc	p.C64S	TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.C24S|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.C64S|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.C62S			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	64	LDL-receptor class A.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTACTTCCTCTGCGGGCAGCC	0.587																																																	0													134.0	134.0	134.0					11																	117973848		2200	4296	6496	SO:0001583	missense	0			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.190T>A	11.37:g.117973848T>A	ENSP00000416037:p.Cys64Ser		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.C64S	ENST00000437212.3	37	c.190	CCDS31684.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.23|16.23	3.065181|3.065181	0.55432|0.55432	.|.	.|.	ENSG00000137648|ENSG00000137648	ENST00000534111;ENST00000523251;ENST00000437212;ENST00000522824|ENST00000517544	D;D;D;D|D	0.99369|0.91180	-5.78;-5.78;-5.78;-5.78|-2.8	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	D|D	0.95859|0.95859	0.8652|0.8652	H|H	0.94306|0.94306	3.52|3.52	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.46327|.	0.597;0.804;0.839;0.876|.	B;B;P;P|.	0.54312|.	0.255;0.356;0.748;0.559|.	D|D	0.95649|0.95649	0.8705|0.8705	10|7	0.72032|0.32370	D|T	0.01|0.25	.|.	13.9724|13.9724	0.64250|0.64250	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	39;24;64;62|.	B7Z900;E7ERX8;Q9NRS4;Q9NRS4-3|.	.;.;TMPS4_HUMAN;.|.	S|Q	62;24;64;64|30	ENSP00000435184:C62S;ENSP00000429209:C24S;ENSP00000416037:C64S;ENSP00000430547:C64S|ENSP00000429833:L30Q	ENSP00000416037:C64S|ENSP00000429833:L30Q	C|L	+|+	1|2	0|0	TMPRSS4|TMPRSS4	117479058|117479058	1.000000|1.000000	0.71417|0.71417	0.861000|0.861000	0.33841|0.33841	0.102000|0.102000	0.19082|0.19082	3.720000|3.720000	0.54933|0.54933	1.940000|1.940000	0.56252|0.56252	0.379000|0.379000	0.24179|0.24179	TGC|CTG	TMPRSS4	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt	ENSG00000137648		0.587	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS4	HGNC	protein_coding	OTTHUMT00000377328.2	-	0.00	75	0	T	NM_019894		117973848	+1	tier1	-	no_errors	ENST00000437212	ensembl	human	known	74_37	missense	31.18	64	29	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr17:7577058C>A	ENST00000269305.4	-	8	1069	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E294*	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	294	Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(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)	TGGTGAGGCTCCCCTTTCTTG	0.567		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"""	87	Substitution - Nonsense(46)|Deletion - Frameshift(20)|Whole gene deletion(8)|Substitution - Missense(5)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex - compound substitution(1)	upper_aerodigestive_tract(17)|lung(14)|large_intestine(10)|breast(7)|urinary_tract(6)|oesophagus(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(2)|skin(2)|salivary_gland(1)|vulva(1)|soft_tissue(1)|endometrium(1)											109.0	95.0	100.0					17																	7577058		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.880G>T	17.37:g.7577058C>A	ENSP00000269305:p.Glu294*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E294*	ENST00000269305.4	37	c.880	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.130179	0.94473	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	4.29	0.51040	.	0.702099	0.13430	N	0.388474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.6918	13.5106	0.61511	0.0:0.8337:0.1663:0.0	.	.	.	.	X	294;294;294;294;294;283;162	.	ENSP00000269305:E294X	E	-	1	0	TP53	7517783	0.019000	0.18553	0.006000	0.13384	0.253000	0.25986	1.700000	0.37815	1.441000	0.47550	0.561000	0.74099	GAG	TP53	-	NULL	ENSG00000141510		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	483	0	C	NM_000546		7577058	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	45.24	207	171	SNP	0.015	A
TSHZ3	57616	genome.wustl.edu	37	19	31769449	31769449	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:31769449G>T	ENST00000240587.4	-	2	1577	c.1250C>A	c.(1249-1251)tCt>tAt	p.S417Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	417					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S417F(1)|p.S234F(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTCATAGCAGAGTTGGTGAC	0.572																																																	2	Substitution - Missense(2)	skin(2)											131.0	122.0	125.0					19																	31769449		2203	4300	6503	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1250C>A	19.37:g.31769449G>T	ENSP00000240587:p.Ser417Tyr		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S417Y	ENST00000240587.4	37	c.1250	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601363	0.66445	.	.	ENSG00000121297	ENST00000240587	T	0.22743	1.94	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.17899	-1.0354	10	0.87932	D	0	-16.4251	19.3123	0.94195	0.0:0.0:1.0:0.0	.	417	Q63HK5	TSH3_HUMAN	Y	417	ENSP00000240587:S417Y	ENSP00000240587:S417Y	S	-	2	0	TSHZ3	36461289	1.000000	0.71417	0.987000	0.45799	0.920000	0.55202	9.441000	0.97557	2.548000	0.85928	0.655000	0.94253	TCT	TSHZ3	-	NULL	ENSG00000121297		0.572	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2		0.00	60	0	G	NM_020856		31769449	-1			no_errors	ENST00000240587	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
UBN1	29855	genome.wustl.edu	37	16	4921188	4921188	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:4921188T>G	ENST00000396658.4	+	11	2295	c.1592T>G	c.(1591-1593)cTg>cGg	p.L531R	UBN1_ENST00000262376.6_Missense_Mutation_p.L531R|UBN1_ENST00000545171.1_Missense_Mutation_p.L531R|UBN1_ENST00000590769.1_Missense_Mutation_p.L531R	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	531					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAGATCAAACTGGAGAGCCAG	0.537																																																	0													116.0	111.0	113.0					16																	4921188		2197	4300	6497	SO:0001583	missense	0			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1592T>G	16.37:g.4921188T>G	ENSP00000379894:p.Leu531Arg		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	NULL	p.L531R	ENST00000396658.4	37	c.1592	CCDS10525.1	16	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701832	0.68501	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.43688	0.94;0.94;0.94	5.56	5.56	0.83823	.	0.271703	0.32314	N	0.006266	T	0.59018	0.2163	L	0.49126	1.545	0.41941	D	0.990615	D;D	0.76494	0.999;0.999	D;D	0.71184	0.952;0.972	T	0.62704	-0.6798	10	0.87932	D	0	-8.6697	15.7077	0.77598	0.0:0.0:0.0:1.0	.	531;531	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	R	531	ENSP00000262376:L531R;ENSP00000442379:L531R;ENSP00000379894:L531R	ENSP00000262376:L531R	L	+	2	0	UBN1	4861189	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.489000	0.53237	2.112000	0.64535	0.528000	0.53228	CTG	UBN1	-	NULL	ENSG00000118900		0.537	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1	-	0.00	76	0	T	NM_016936		4921188	+1	tier1	-	no_errors	ENST00000262376	ensembl	human	known	74_37	missense	37.18	49	29	SNP	1.000	G
WDR20	91833	genome.wustl.edu	37	14	102675610	102675610	+	Missense_Mutation	SNP	G	G	T	rs554826886		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr14:102675610G>T	ENST00000342702.3	+	3	1134	c.1103G>T	c.(1102-1104)cGg>cTg	p.R368L	WDR20_ENST00000556511.2_Missense_Mutation_p.R307L|WDR20_ENST00000556807.1_Missense_Mutation_p.R307L|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.R399L|WDR20_ENST00000335263.5_Missense_Mutation_p.R368L|WDR20_ENST00000499851.2_Missense_Mutation_p.R111L|WDR20_ENST00000545563.1_Missense_Mutation_p.R195L|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000424963.2_Missense_Mutation_p.R244L	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	368										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GTCACGTATCGGTTTGGTTCC	0.507											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													91.0	81.0	85.0					14																	102675610		2203	4300	6503	SO:0001583	missense	0			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1103G>T	14.37:g.102675610G>T	ENSP00000341037:p.Arg368Leu	1368	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R399L	ENST00000342702.3	37	c.1196	CCDS9969.1	14	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829113	0.71258	.	.	ENSG00000140153	ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000499851;ENST00000454394;ENST00000401892;ENST00000545563	T;T;T;T;T;T;T	0.75050	-0.9;2.44;-0.9;2.44;3.43;-0.9;-0.9	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88955	0.6578	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.987;1.0	D;D;D;D;D;D;D	0.97110	0.995;0.999;0.998;1.0;0.998;0.953;0.995	D	0.89826	0.3992	10	0.56958	D	0.05	.	19.5351	0.95247	0.0:0.0:1.0:0.0	.	399;380;307;368;307;244;368	E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3	.;.;.;.;.;.;WDR20_HUMAN	L	368;307;244;368;307;111;399;298;195	ENSP00000335434:R368L;ENSP00000395793:R244L;ENSP00000341037:R368L;ENSP00000450636:R307L;ENSP00000443641:R111L;ENSP00000406084:R399L;ENSP00000437927:R195L	ENSP00000299135:R307L	R	+	2	0	WDR20	101745363	1.000000	0.71417	0.986000	0.45419	0.702000	0.40608	9.467000	0.97671	2.640000	0.89533	0.655000	0.94253	CGG	WDR20	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000140153		0.507	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR20	HGNC	protein_coding	OTTHUMT00000414963.1	-	0.00	47	0	G	NM_181291		102675610	+1	tier1	-	no_errors	ENST00000454394	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
WDR24	84219	genome.wustl.edu	37	16	736118	736118	+	Silent	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:736118G>T	ENST00000248142.6	-	8	1790	c.1791C>A	c.(1789-1791)ctC>ctA	p.L597L	WDR24_ENST00000293883.4_Silent_p.L467L|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	597										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CACTGTGGTTGAGGTTTGCAG	0.657																																																	0													59.0	53.0	55.0					16																	736118		2198	4300	6498	SO:0001819	synonymous_variant	0			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1791C>A	16.37:g.736118G>T			A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L597	ENST00000248142.6	37	c.1791		16																																																																																			WDR24	-	NULL	ENSG00000127580		0.657	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		-	0.00	49	0	G	NM_032259		736118	-1	tier1	-	no_errors	ENST00000248142	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.999	T
WDR37	22884	genome.wustl.edu	37	10	1142172	1142172	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr10:1142172G>T	ENST00000358220.1	+	9	856	c.712G>T	c.(712-714)Gtt>Ttt	p.V238F	WDR37_ENST00000263150.4_Missense_Mutation_p.V238F|WDR37_ENST00000381329.1_Missense_Mutation_p.V238F			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	238										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		ACCCCAGCCTGTTGCTGACAC	0.488																																																	0													124.0	107.0	113.0					10																	1142172		2203	4300	6503	SO:0001583	missense	0			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.712G>T	10.37:g.1142172G>T	ENSP00000350954:p.Val238Phe		A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V238F	ENST00000358220.1	37	c.712	CCDS7057.1	10	.	.	.	.	.	.	.	.	.	.	G	0.099	-1.154408	0.01700	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	T;T;T;T	0.74209	-0.08;-0.74;-0.08;-0.82	5.5	0.21	0.15231	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.636690	0.16961	N	0.192491	T	0.49525	0.1562	N	0.14661	0.345	0.09310	N	1	B;B;B	0.29805	0.0;0.0;0.257	B;B;B	0.21151	0.0;0.0;0.033	T	0.29671	-1.0004	10	0.19147	T	0.46	.	8.7622	0.34680	0.7306:0.0:0.2694:0.0	.	238;238;238	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	F	238;238;238;205	ENSP00000350954:V238F;ENSP00000370730:V238F;ENSP00000263150:V238F;ENSP00000404346:V205F	ENSP00000263150:V238F	V	+	1	0	WDR37	1132172	0.605000	0.26941	0.002000	0.10522	0.198000	0.23893	2.098000	0.41757	0.008000	0.14787	0.643000	0.83706	GTT	WDR37	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000047056		0.488	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR37	HGNC	protein_coding	OTTHUMT00000046418.1	-	0.00	71	0	G	NM_014023		1142172	+1	tier1	-	no_errors	ENST00000263150	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.002	T
ZC2HC1A	51101	genome.wustl.edu	37	8	79609678	79609678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr8:79609678G>T	ENST00000263849.4	+	6	643	c.541G>T	c.(541-543)Gga>Tga	p.G181*	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	181							metal ion binding (GO:0046872)										AAATTCTCCTGGAACTGCATC	0.368																																																	0													70.0	70.0	70.0					8																	79609678		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.541G>T	8.37:g.79609678G>T	ENSP00000263849:p.Gly181*		Q9Y372	Nonsense_Mutation	SNP	NULL	p.G181*	ENST00000263849.4	37	c.541	CCDS6223.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.066946|6.066946	0.97251|0.97251	.|.	.|.	ENSG00000104427|ENSG00000104427	ENST00000263849|ENST00000519307	.|.	.|.	.|.	5.48|5.48	4.59|4.59	0.56863|0.56863	.|.	0.370184|.	0.30911|.	N|.	0.008632|.	.|T	.|0.69079	.|0.3071	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66866	.|-0.5815	.|4	.|.	.|.	.|.	-14.9524|-14.9524	14.0325|14.0325	0.64624|0.64624	0.073:0.0:0.927:0.0|0.073:0.0:0.927:0.0	.|.	.|.	.|.	.|.	X|L	181|13	.|.	.|.	G|W	+|+	1|2	0|0	FAM164A|FAM164A	79772233|79772233	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.848000|3.848000	0.55903|0.55903	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GGA|TGG	ZC2HC1A	-	NULL	ENSG00000104427		0.368	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1A	HGNC	protein_coding	OTTHUMT00000379423.2		0.00	49	0	G	NM_016010		79609678	+1			no_errors	ENST00000263849	ensembl	human	known	74_37	nonsense	5.56	51	3	SNP	0.997	T
ZC3H12C	85463	genome.wustl.edu	37	11	110008026	110008026	+	Silent	SNP	G	G	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr11:110008026G>A	ENST00000278590.3	+	2	711	c.660G>A	c.(658-660)cgG>cgA	p.R220R	ZC3H12C_ENST00000528673.1_Silent_p.R221R|ZC3H12C_ENST00000453089.2_Silent_p.R189R	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	220							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTATAACACGGGAAACTTCTT	0.378																																																	0													61.0	57.0	58.0					11																	110008026		1858	4094	5952	SO:0001819	synonymous_variant	0				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.660G>A	11.37:g.110008026G>A			B4DI65|B4DR47	Silent	SNP	pfam_RNase_Zc3h12	p.R220	ENST00000278590.3	37	c.660	CCDS44727.1	11																																																																																			ZC3H12C	-	NULL	ENSG00000149289		0.378	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1		0.00	81	0	G	NM_033390		110008026	+1			no_errors	ENST00000278590	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.998	A
ZFP36L2	678	genome.wustl.edu	37	2	43452439	43452440	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr2:43452439_43452440insCA	ENST00000282388.3	-	2	796_797	c.503_504insTG	c.(502-504)tgcfs	p.C168fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	168					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGCCGTACTTGCACGTGCCGCT	0.634																																																	0																																										SO:0001589	frameshift_variant	0			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.502_503dupTG	2.37:g.43452440_43452441dupCA	ENSP00000282388:p.Cys168fs		Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.K169fs	ENST00000282388.3	37	c.504_503	CCDS1811.1	2																																																																																			ZFP36L2	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000152518		0.634	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2		0.00	72	0	0	NM_006887		43452440	-1			no_errors	ENST00000282388	ensembl	human	known	74_37	frame_shift_ins	9.71	93	10	INS	1.000:1.000	CA
ZGPAT	84619	genome.wustl.edu	37	20	62366325	62366325	+	Intron	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:62366325G>T	ENST00000328969.5	+	5	1178				ZGPAT_ENST00000478385.1_3'UTR|RP4-583P15.15_ENST00000490623.2_Intron|ZGPAT_ENST00000355969.6_Intron|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Intron|ZGPAT_ENST00000448100.2_Intron|ZGPAT_ENST00000357119.4_Intron	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain						negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CAGATTCCCGGGGTCCCGCGG	0.682																																																	0																																										SO:0001627	intron_variant	0			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.1051+149G>T	20.37:g.62366325G>T			E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	RNA	SNP	-	NULL	ENST00000328969.5	37	NULL	CCDS13534.1	20																																																																																			ZGPAT	-	-	ENSG00000197114		0.682	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	ZGPAT	HGNC	protein_coding	OTTHUMT00000080214.1	-	0.00	53	0	G	NM_181484		62366325	+1	tier1	-	no_errors	ENST00000478385	ensembl	human	known	74_37	rna	11.67	53	7	SNP	0.333	T
ZNF341	84905	genome.wustl.edu	37	20	32377396	32377396	+	Splice_Site	SNP	T	T	A			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:32377396T>A	ENST00000375200.1	+	14	2400		c.e14+2		ZNF341_ENST00000342427.2_Splice_Site|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCACTCTGGTAAGTGGCTCT	0.562																																																	0													77.0	64.0	69.0					20																	32377396		2203	4300	6503	SO:0001630	splice_region_variant	0			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2035+2T>A	20.37:g.32377396T>A			A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Splice_Site	SNP	-	e14+2	ENST00000375200.1	37	c.2035+2		20	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054022	0.75960	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.74	0.69445	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF341	31841057	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.525000	0.81892	2.141000	0.66446	0.454000	0.30748	.	ZNF341	-	-	ENSG00000131061		0.562	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		-	0.00	50	0	T		Intron	32377396	+1	tier1	-	no_errors	ENST00000375200	ensembl	human	known	74_37	splice_site	43.10	33	25	SNP	1.000	A
ZGPAT	84619	genome.wustl.edu	37	20	62366327	62366327	+	Intron	SNP	G	G	C			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr20:62366327G>C	ENST00000328969.5	+	5	1178				ZGPAT_ENST00000478385.1_3'UTR|RP4-583P15.15_ENST00000490623.2_Intron|ZGPAT_ENST00000355969.6_Intron|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Intron|ZGPAT_ENST00000448100.2_Intron|ZGPAT_ENST00000357119.4_Intron	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain						negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GATTCCCGGGGTCCCGCGGCC	0.682																																																	0																																										SO:0001627	intron_variant	0			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.1051+151G>C	20.37:g.62366327G>C			E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	RNA	SNP	-	NULL	ENST00000328969.5	37	NULL	CCDS13534.1	20																																																																																			ZGPAT	-	-	ENSG00000197114		0.682	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	ZGPAT	HGNC	protein_coding	OTTHUMT00000080214.1	-	0.00	54	0	G	NM_181484		62366327	+1	tier1	-	no_errors	ENST00000478385	ensembl	human	known	74_37	rna	11.86	51	7	SNP	0.159	C
ZNF582	147948	genome.wustl.edu	37	19	56895810	56895810	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr19:56895810A>C	ENST00000301310.4	-	5	1134	c.976T>G	c.(976-978)Ttg>Gtg	p.L326V	ZNF582_ENST00000586929.1_Missense_Mutation_p.L326V|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGTTGAATCAACTGAGAACGA	0.388																																					Ovarian(183;1887 2032 4349 30507 51343)												0													94.0	93.0	94.0					19																	56895810		2203	4300	6503	SO:0001583	missense	0			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.976T>G	19.37:g.56895810A>C	ENSP00000301310:p.Leu326Val		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L326V	ENST00000301310.4	37	c.976	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368174	0.61513	.	.	ENSG00000018869	ENST00000301310	T	0.12255	2.7	4.04	-8.08	0.01094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28958	N	0.013591	T	0.39279	0.1072	M	0.90082	3.085	0.09310	N	1	D;D	0.76494	0.999;0.965	D;P	0.85130	0.997;0.721	T	0.55755	-0.8091	10	0.87932	D	0	.	19.1948	0.93682	0.1441:0.0:0.8559:0.0	.	326;357	Q96NG8;B4DQZ9	ZN582_HUMAN;.	V	326	ENSP00000301310:L326V	ENSP00000301310:L326V	L	-	1	2	ZNF582	61587622	0.000000	0.05858	0.000000	0.03702	0.295000	0.27426	-0.541000	0.06099	-1.892000	0.01108	-0.250000	0.11733	TTG	ZNF582	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000018869		0.388	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	-	0.00	59	0	A	NM_144690		56895810	-1	tier1	-	no_errors	ENST00000301310	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.000	C
ZNF608	57507	genome.wustl.edu	37	5	123984497	123984497	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr5:123984497G>T	ENST00000306315.5	-	4	2015	c.1580C>A	c.(1579-1581)tCc>tAc	p.S527Y	ZNF608_ENST00000504926.1_Missense_Mutation_p.S100Y	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	527							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGTGCTTCTGGAATTTGTGCG	0.512																																																	0													133.0	128.0	130.0					5																	123984497		2203	4300	6503	SO:0001583	missense	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1580C>A	5.37:g.123984497G>T	ENSP00000307746:p.Ser527Tyr		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.S527Y	ENST00000306315.5	37	c.1580	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743129	0.89663	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.55930	0.49;0.53	5.26	5.26	0.73747	.	0.226724	0.47093	D	0.000256	T	0.72969	0.3527	M	0.73217	2.22	0.58432	D	0.999999	D	0.71674	0.998	D	0.76071	0.987	T	0.76152	-0.3064	10	0.87932	D	0	-16.3852	18.87	0.92309	0.0:0.0:1.0:0.0	.	527	Q9ULD9	ZN608_HUMAN	Y	100;527;527;527	ENSP00000427657:S100Y;ENSP00000307746:S527Y	ENSP00000307746:S527Y	S	-	2	0	ZNF608	124012396	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.847000	0.99503	2.456000	0.83038	0.544000	0.68410	TCC	ZNF608	-	NULL	ENSG00000168916		0.512	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	-	0.00	78	0	G	XM_114432		123984497	-1	tier1	-	no_errors	ENST00000306315	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
ZNF684	127396	genome.wustl.edu	37	1	41007085	41007086	+	Intron	INS	-	-	ACCT			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr1:41007085_41007086insACCT	ENST00000372699.3	+	4	393				ZNF684_ENST00000372696.3_Intron|ZNF684_ENST00000493756.1_Intron|ZNF684_ENST00000372697.3_Intron	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684						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(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			tcgatctcctgacctcatgatc	0.535																																																	0																																										SO:0001627	intron_variant	0				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.143-201->ACCT	1.37:g.41007086_41007089dupACCT			Q2NKY4	RNA	INS	-	NULL	ENST00000372699.3	37	NULL	CCDS454.1	1																																																																																			ZNF684	-	-	ENSG00000117010		0.535	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF684	HGNC	protein_coding	OTTHUMT00000019260.3		0.00	20	0	-	NM_152373		41007086	+1	tier1		no_errors	ENST00000472043	ensembl	human	known	74_37	rna	15.79	16	3	INS	0.002:0.004	ACCT
ZNF815P	401303	genome.wustl.edu	37	7	5887309	5887309	+	RNA	SNP	C	C	G	rs201257714		TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:5887309C>G	ENST00000421890.1	+	0	1352							A8K554	ZN815_HUMAN	zinc finger protein 815, pseudogene																		ACGAGTGCTCCGACTGCGGGA	0.642																																																	0																																												0			AK096288		7p22.1	2012-10-05	2012-04-20	2012-04-20	ENSG00000235944	ENSG00000235944			22029	pseudogene	pseudogene			"""zinc finger protein 815"""	ZNF815			Standard	NR_023382		Approved	FLJ38969	uc003spc.2	A8K554	OTTHUMG00000155501		7.37:g.5887309C>G				RNA	SNP	-	NULL	ENST00000421890.1	37	NULL		7																																																																																			ZNF815P	-	-	ENSG00000235944		0.642	ZNF815P-002	KNOWN	basic	processed_transcript	ZNF815P	HGNC	pseudogene	OTTHUMT00000340385.1	-	0.00	22	0	C			5887309	+1	tier1	rs201257714	no_errors	ENST00000422825	ensembl	human	known	74_37	rna	21.74	18	5	SNP	0.000	G
ZNF804B	219578	genome.wustl.edu	37	7	88965762	88965762	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr7:88965762G>T	ENST00000333190.4	+	4	4075	c.3466G>T	c.(3466-3468)Gat>Tat	p.D1156Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1156							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGACGAAATAGATAAATATAA	0.428										HNSCC(36;0.09)																																							0													53.0	55.0	54.0					7																	88965762		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3466G>T	7.37:g.88965762G>T	ENSP00000329638:p.Asp1156Tyr		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.D1156Y	ENST00000333190.4	37	c.3466	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078010	0.76528	.	.	ENSG00000182348	ENST00000333190	T	0.09911	2.93	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000004	T	0.34454	0.0898	M	0.69823	2.125	0.54753	D	0.99998	D	0.89917	1.0	D	0.76575	0.988	T	0.04495	-1.0947	10	0.87932	D	0	-22.5229	18.8132	0.92065	0.0:0.0:1.0:0.0	.	1156	A4D1E1	Z804B_HUMAN	Y	1156	ENSP00000329638:D1156Y	ENSP00000329638:D1156Y	D	+	1	0	ZNF804B	88803698	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.166000	0.94766	2.736000	0.93811	0.655000	0.94253	GAT	ZNF804B	-	NULL	ENSG00000182348		0.428	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2		0.00	42	0	G	NM_181646		88965762	+1			no_errors	ENST00000333190	ensembl	human	known	74_37	missense	10.61	59	7	SNP	1.000	T
ZSCAN32	54925	genome.wustl.edu	37	16	3433044	3433044	+	Silent	SNP	C	C	T			TCGA-LN-A4A3-01A-11D-A27G-09	TCGA-LN-A4A3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dc0442d2-daac-420a-a896-40c6d28acf91	f7ee30f1-f1a3-450b-9dd1-8bdd40875311	g.chr16:3433044C>T	ENST00000396852.4	-	7	2209	c.1902G>A	c.(1900-1902)aaG>aaA	p.K634K	ZSCAN32_ENST00000304926.3_Silent_p.K422K|NAA60_ENST00000576906.1_Intron|ZSCAN32_ENST00000439568.2_Silent_p.K345K|ZSCAN32_ENST00000396846.3_Silent_p.K634K	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	634					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										ACACTGCACACTTGTATGGGC	0.502																																																	0													134.0	115.0	121.0					16																	3433044		2197	4300	6497	SO:0001819	synonymous_variant	0			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1902G>A	16.37:g.3433044C>T			B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.K634	ENST00000396852.4	37	c.1902		16																																																																																			ZSCAN32	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000140987		0.502	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	ZSCAN32	HGNC	protein_coding	OTTHUMT00000251509.2	-	0.00	134	0	C	NM_017810		3433044	-1	tier1	-	no_errors	ENST00000396846	ensembl	human	known	74_37	silent	5.37	140	8	SNP	0.001	T
