#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
ABCB8	11194	genome.wustl.edu	37	7	150725613	150725613	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr7:150725613A>G	ENST00000297504.6	+	1	77	c.11A>G	c.(10-12)cAt>cGt	p.H4R	ABCB8_ENST00000498578.1_Missense_Mutation_p.H4R|ABCB8_ENST00000356058.4_Missense_Mutation_p.H4R|RP11-148K1.10_ENST00000479085.1_RNA|ABCB8_ENST00000358849.4_Missense_Mutation_p.H4R|ABCB8_ENST00000477719.1_Missense_Mutation_p.H4R|ABCB8_ENST00000477092.1_Missense_Mutation_p.H4R|ABCB8_ENST00000542328.1_Silent_p.A20A			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	4					transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	ATGCTGGTGCATTTATTTCGG	0.587											OREG0018445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													69.0	61.0	63.0					7																	150725613		2203	4300	6503	SO:0001583	missense	0			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.11A>G	7.37:g.150725613A>G	ENSP00000297504:p.His4Arg	1734	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.H4R	ENST00000297504.6	37	c.11		7	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527830	0.64860	.	.	ENSG00000197150	ENST00000461373;ENST00000358849;ENST00000360651;ENST00000297504;ENST00000498578;ENST00000356058;ENST00000477719;ENST00000477092	D;D;D;D;D;D	0.96491	-2.67;-2.64;-2.83;-4.03;-2.45;-2.54	4.99	4.99	0.66335	.	0.185393	0.36932	N	0.002330	D	0.94095	0.8107	L	0.29908	0.895	0.32801	D	0.500122	P;P;P;D;P	0.59357	0.842;0.915;0.902;0.985;0.93	B;B;B;P;P	0.49799	0.236;0.366;0.342;0.622;0.554	D	0.95571	0.8638	10	0.87932	D	0	-7.5947	11.0155	0.47687	1.0:0.0:0.0:0.0	.	4;4;4;4;4	A5D8W3;Q9NUT2;Q9NUT2-2;C9JTY4;E7ENE8	.;ABCB8_HUMAN;.;.;.	R	4	ENSP00000351717:H4R;ENSP00000297504:H4R;ENSP00000418271:H4R;ENSP00000348353:H4R;ENSP00000419891:H4R;ENSP00000419558:H4R	ENSP00000297504:H4R	H	+	2	0	ABCB8	150356546	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.689000	0.46993	2.091000	0.63221	0.533000	0.62120	CAT	ABCB8	-	NULL	ENSG00000197150		0.587	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	HGNC	protein_coding	OTTHUMT00000351733.2	-	0.00	71	0	A	NM_007188		150725613	+1	tier1	-	no_errors	ENST00000297504	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	G
ACAD11	84129	genome.wustl.edu	37	3	132297707	132297707	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:132297707C>T	ENST00000264990.6	-	15	2678	c.1707G>A	c.(1705-1707)atG>atA	p.M569I	ACAD11_ENST00000545291.1_Missense_Mutation_p.M94I|ACAD11_ENST00000355458.3_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	569					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GAACAAGAATCATGCTGTGCT	0.333																																																	0													146.0	147.0	146.0					3																	132297707		2203	4300	6503	SO:0001583	missense	0			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1707G>A	3.37:g.132297707C>T	ENSP00000264990:p.Met569Ile		Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.M569I	ENST00000264990.6	37	c.1707	CCDS3074.1	3	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337325	0.81911	.	.	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.98876	-5.2;-5.2	5.56	3.78	0.43462	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	.	.	.	.	D	0.98988	0.9655	M	0.86953	2.85	0.80722	D	1	D	0.60575	0.988	D	0.68192	0.956	D	0.99032	1.0821	9	0.54805	T	0.06	.	11.4269	0.50015	0.0:0.8508:0.0:0.1492	.	569	Q709F0	ACD11_HUMAN	I	569;94	ENSP00000264990:M569I;ENSP00000446263:M94I	ENSP00000264990:M569I	M	-	3	0	ACAD11	133780397	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.174000	0.58256	0.830000	0.34757	0.591000	0.81541	ATG	ACAD11	-	superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000240303		0.333	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	-	0.00	47	0	C	NM_032169		132297707	-1	tier1	-	no_errors	ENST00000264990	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	T
ACTR10	55860	genome.wustl.edu	37	14	58678109	58678109	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr14:58678109G>T	ENST00000254286.4	+	5	522	c.442G>T	c.(442-444)Gtg>Ttg	p.V148L		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	148					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						GGAAAGCCTGGTGTTACCCAT	0.383																																																	0													178.0	178.0	178.0					14																	58678109		2203	4300	6503	SO:0001583	missense	0			AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.442G>T	14.37:g.58678109G>T	ENSP00000254286:p.Val148Leu		Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.V148L	ENST00000254286.4	37	c.442	CCDS32090.1	14	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050947	0.55218	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	D	0.96041	-3.89	5.92	5.02	0.67125	.	0.143838	0.45606	U	0.000346	D	0.93171	0.7825	L	0.52206	1.635	0.80722	D	1	P	0.36753	0.568	B	0.33568	0.166	D	0.92961	0.6389	10	0.87932	D	0	-9.743	15.7379	0.77859	0.0:0.1372:0.8628:0.0	.	148	Q9NZ32	ARP10_HUMAN	L	148	ENSP00000254286:V148L	ENSP00000254286:V148L	V	+	1	0	ACTR10	57747862	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.206000	0.95056	1.480000	0.48289	0.650000	0.86243	GTG	ACTR10	-	pfam_Actin-related,smart_Actin-related	ENSG00000131966		0.383	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ACTR10	HGNC	protein_coding	OTTHUMT00000411405.1	-	0.00	26	0	G			58678109	+1	tier1	-	no_errors	ENST00000254286	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T
ANGPT4	51378	genome.wustl.edu	37	20	861854	861854	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr20:861854A>G	ENST00000381922.3	-	5	1013	c.911T>C	c.(910-912)gTc>gCc	p.V304A	ANGPT4_ENST00000546022.1_Missense_Mutation_p.V304A	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	304	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GATGGTGTAGACACCACTGGC	0.567																																					Pancreas(181;481 2077 3259 31286 49856)												0													74.0	62.0	66.0					20																	861854		2203	4300	6503	SO:0001583	missense	0			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.911T>C	20.37:g.861854A>G	ENSP00000371347:p.Val304Ala		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.V304A	ENST00000381922.3	37	c.911	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699252	0.68501	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.12774	2.65;2.65	4.91	4.91	0.64330	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.990706	0.08210	N	0.980840	T	0.45915	0.1366	M	0.93062	3.375	0.46564	D	0.999104	D;D	0.56746	0.977;0.977	P;P	0.59546	0.859;0.817	T	0.40117	-0.9580	10	0.59425	D	0.04	.	13.5025	0.61465	1.0:0.0:0.0:0.0	.	304;304	B4E3J9;Q9Y264	.;ANGP4_HUMAN	A	304	ENSP00000371347:V304A;ENSP00000439605:V304A	ENSP00000371347:V304A	V	-	2	0	ANGPT4	809854	1.000000	0.71417	0.921000	0.36526	0.248000	0.25809	5.918000	0.69996	2.069000	0.61940	0.459000	0.35465	GTC	ANGPT4	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000101280		0.567	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	-	0.00	44	0	A	NM_015985		861854	-1	tier1	-	no_errors	ENST00000381922	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.998	G
ANKRD27	84079	genome.wustl.edu	37	19	33134495	33134495	+	Silent	SNP	G	G	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr19:33134495G>A	ENST00000306065.4	-	6	726	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	ANKRD27_ENST00000587352.1_Silent_p.L190L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	190					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)					GAGTCCCTCAGAAGCTGCTGG	0.547																																																	0													175.0	177.0	176.0					19																	33134495		2203	4300	6503	SO:0001819	synonymous_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.568C>T	19.37:g.33134495G>A			Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.L190	ENST00000306065.4	37	c.568	CCDS32986.1	19																																																																																			ANKRD27	-	NULL	ENSG00000105186		0.547	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	-	0.00	60	0	G	NM_032139		33134495	-1	tier1	-	no_errors	ENST00000306065	ensembl	human	known	74_37	silent	26.67	44	16	SNP	0.888	A
ANO6	196527	genome.wustl.edu	37	12	45695847	45695847	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr12:45695847A>T	ENST00000320560.8	+	2	323	c.121A>T	c.(121-123)Agt>Tgt	p.S41C	ANO6_ENST00000426898.2_Intron|ANO6_ENST00000423947.3_Missense_Mutation_p.S62C|ANO6_ENST00000435642.1_Missense_Mutation_p.S41C|ANO6_ENST00000441606.2_Missense_Mutation_p.S23C|ANO6_ENST00000425752.2_Missense_Mutation_p.S41C	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	41					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATCACTGGAAAGTCAGCATGA	0.358																																																	0													168.0	166.0	166.0					12																	45695847		2203	4300	6503	SO:0001583	missense	0			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.121A>T	12.37:g.45695847A>T	ENSP00000320087:p.Ser41Cys		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.S41C	ENST00000320560.8	37	c.121	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429985	0.62844	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.71461	-0.57;-0.46;-0.57;-0.42;-0.43	4.83	0.0444	0.14225	.	1.119750	0.06628	N	0.758662	T	0.67401	0.2889	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.48640	0.507;0.598;0.889;0.913	B;B;B;P	0.46076	0.122;0.174;0.253;0.503	T	0.57837	-0.7742	10	0.66056	D	0.02	.	6.9028	0.24293	0.595:0.0:0.405:0.0	.	23;62;41;41	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	C	41;62;41;41;23	ENSP00000391417:S41C;ENSP00000409126:S62C;ENSP00000413840:S41C;ENSP00000320087:S41C;ENSP00000413137:S23C	ENSP00000320087:S41C	S	+	1	0	ANO6	43982114	0.016000	0.18221	0.010000	0.14722	0.973000	0.67179	0.337000	0.19841	0.098000	0.17522	0.523000	0.50628	AGT	ANO6	-	NULL	ENSG00000177119		0.358	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	-	0.00	63	0	A	XM_113743		45695847	+1	tier1	-	no_errors	ENST00000425752	ensembl	human	known	74_37	missense	21.74	54	15	SNP	0.019	T
ARHGAP5	394	genome.wustl.edu	37	14	32561316	32561316	+	Nonsense_Mutation	SNP	G	G	T	rs200628183	byFrequency	TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr14:32561316G>T	ENST00000345122.3	+	2	1756	c.1441G>T	c.(1441-1443)Gaa>Taa	p.E481*	ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.E481*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.E481*|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.E481*|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	481	FF 3.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCATCAGCGAGAAATAGTTGA	0.373																																					NSCLC(9;77 350 3443 29227 41353)												0													69.0	70.0	70.0					14																	32561316		2203	4297	6500	SO:0001587	stop_gained	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1441G>T	14.37:g.32561316G>T	ENSP00000371897:p.Glu481*		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.E481*	ENST00000345122.3	37	c.1441	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	40	8.091676	0.98648	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	.	.	.	X	481	.	ENSP00000371897:E481X	E	+	1	0	ARHGAP5	31631067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GAA	ARHGAP5	-	superfamily_FF_domain,smart_FF_domain	ENSG00000100852		0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0.00	49	0	G	NM_001030055		32561316	+1	tier1	rs200628183	no_errors	ENST00000345122	ensembl	human	known	74_37	nonsense	9.76	37	4	SNP	1.000	T
ARHGAP5	394	genome.wustl.edu	37	14	32561340	32561340	+	Missense_Mutation	SNP	G	G	A	rs78337553		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr14:32561340G>A	ENST00000345122.3	+	2	1780	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E489K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E489K|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E489K|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	489	FF 4.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.E489K(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCCAAAGAAGAGTTTCAAGA	0.343																																					NSCLC(9;77 350 3443 29227 41353)												1	Substitution - Missense(1)	stomach(1)											60.0	61.0	61.0					14																	32561340		2203	4298	6501	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1465G>A	14.37:g.32561340G>A	ENSP00000371897:p.Glu489Lys		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.E489K	ENST00000345122.3	37	c.1465	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741262	0.69304	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	6.02	6.02	0.97574	FF domain (2);	0.044905	0.85682	D	0.000000	T	0.39009	0.1062	N	0.22421	0.69	0.80722	D	1	P;P	0.42296	0.734;0.775	P;P	0.52066	0.562;0.689	T	0.11060	-1.0603	10	0.62326	D	0.03	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	489;489	Q13017-2;Q13017	.;RHG05_HUMAN	K	489	ENSP00000452222:E489K;ENSP00000441692:E489K;ENSP00000371897:E489K;ENSP00000393307:E489K	ENSP00000371897:E489K	E	+	1	0	ARHGAP5	31631091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GAG	ARHGAP5	-	pfam_FF_domain,superfamily_FF_domain,smart_FF_domain	ENSG00000100852		0.343	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0.00	53	0	G	NM_001030055		32561340	+1	tier1	rs78337553	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	A
ATG7	10533	genome.wustl.edu	37	3	11372893	11372893	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:11372893C>A	ENST00000354449.3	+	8	783	c.758C>A	c.(757-759)gCc>gAc	p.A253D	ATG7_ENST00000354956.5_Missense_Mutation_p.A253D|ATG7_ENST00000446450.2_Missense_Mutation_p.A214D	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	253					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GTCCTAGCAGCCCACAGATGG	0.398																																																	0													318.0	304.0	309.0					3																	11372893		2203	4300	6503	SO:0001583	missense	0			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.758C>A	3.37:g.11372893C>A	ENSP00000346437:p.Ala253Asp		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7	p.A253D	ENST00000354449.3	37	c.758	CCDS2605.1	3	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942729	0.92526	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	T;T;T	0.42513	0.97;0.97;0.97	5.27	5.27	0.74061	.	0.066786	0.64402	D	0.000016	T	0.64416	0.2596	M	0.85462	2.755	0.80722	D	1	D;D;P	0.61697	0.99;0.99;0.954	P;P;P	0.56823	0.747;0.807;0.646	T	0.67503	-0.5654	10	0.40728	T	0.16	-18.5128	18.5143	0.90930	0.0:1.0:0.0:0.0	.	214;253;253	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	D	214;253;253	ENSP00000412580:A214D;ENSP00000347042:A253D;ENSP00000346437:A253D	ENSP00000346437:A253D	A	+	2	0	ATG7	11347893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.467000	0.73547	2.475000	0.83589	0.591000	0.81541	GCC	ATG7	-	tigrfam_Atg7	ENSG00000197548		0.398	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	HGNC	protein_coding	OTTHUMT00000251951.3	-	0.00	77	0	C	NM_006395		11372893	+1	tier1	-	no_errors	ENST00000354449	ensembl	human	known	74_37	missense	25.49	38	13	SNP	1.000	A
ATM	472	genome.wustl.edu	37	11	108203581	108203581	+	Silent	SNP	T	T	C			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr11:108203581T>C	ENST00000452508.2	+	54	8070	c.7881T>C	c.(7879-7881)taT>taC	p.Y2627Y	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.Y2627Y			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2627					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GTGATGCTTATATTATATTAG	0.363			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													82.0	81.0	81.0					11																	108203581		2201	4297	6498	SO:0001819	synonymous_variant	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7881T>C	11.37:g.108203581T>C			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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.Y2627	ENST00000452508.2	37	c.7881	CCDS31669.1	11																																																																																			ATM	-	superfamily_Kinase-like_dom,superfamily_ARM-type_fold	ENSG00000149311		0.363	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0.00	30	0	T	NM_000051		108203581	+1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	silent	29.41	24	10	SNP	0.992	C
BBX	56987	genome.wustl.edu	37	3	107492014	107492014	+	Silent	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:107492014C>T	ENST00000325805.8	+	11	1733	c.1446C>T	c.(1444-1446)gaC>gaT	p.D482D	BBX_ENST00000406780.1_Silent_p.D482D|BBX_ENST00000402543.1_Silent_p.D482D|BBX_ENST00000416476.2_Intron|BBX_ENST00000415149.2_Silent_p.D482D			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	482	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CGGAATCTGACATTGAGAGCG	0.433																																																	0													73.0	77.0	75.0					3																	107492014		2203	4300	6503	SO:0001819	synonymous_variant	0			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1446C>T	3.37:g.107492014C>T			A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.D482	ENST00000325805.8	37	c.1446	CCDS46881.1	3																																																																																			BBX	-	NULL	ENSG00000114439		0.433	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1		0.00	25	0	C	NM_020235		107492014	+1			no_errors	ENST00000325805	ensembl	human	known	74_37	silent	7.41	25	2	SNP	1.000	T
BCAM	4059	genome.wustl.edu	37	19	45322033	45322033	+	Silent	SNP	G	G	T	rs371664685		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr19:45322033G>T	ENST00000270233.6	+	10	1252	c.1230G>T	c.(1228-1230)tcG>tcT	p.S410S	BCAM_ENST00000589651.1_Silent_p.S410S	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	410	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCATGCTGTCGCTCAGTTCTA	0.632																																																	0								G	,	0,4406		0,0,2203	127.0	110.0	116.0		1230,1230	-9.2	0.0	19		116	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	BCAM	NM_001013257.1,NM_005581.3	,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,	410/589,410/629	45322033	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1230G>T	19.37:g.45322033G>T			A8MYF9|A9YWT5|A9YWT6|Q86VC7	Silent	SNP	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S410	ENST00000270233.6	37	c.1230	CCDS12644.1	19																																																																																			BCAM	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000187244		0.632	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAM	HGNC	protein_coding	OTTHUMT00000453220.1	-	0.00	42	0	G	NM_005581		45322033	+1	tier1	-	no_errors	ENST00000270233	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.000	T
BCL2	596	genome.wustl.edu	37	18	60795795	60795795	+	3'UTR	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr18:60795795G>T	ENST00000398117.1	-	0	2244				BCL2_ENST00000333681.4_3'UTR|BCL2_ENST00000590515.1_5'UTR	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2						actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CACTGACAATGCATATTATTT	0.418			T	IGH@	"""NHL, CLL"""																																			Dom	yes		18	18q21.3	596	B-cell CLL/lymphoma 2		L	0																																										SO:0001624	3_prime_UTR_variant	0			M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	990	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 50"""	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.*63C>A	18.37:g.60795795G>T			C9JHD5|P10416|Q13842|Q16197	RNA	SNP	-	NULL	ENST00000398117.1	37	NULL	CCDS11981.1	18																																																																																			BCL2	-	-	ENSG00000171791		0.418	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2	HGNC	protein_coding	OTTHUMT00000256199.1	-	0.00	22	0	G	NM_000633, NM_000657		60795795	-1	tier1	-	no_errors	ENST00000590515	ensembl	human	known	74_37	rna	26.67	11	4	SNP	0.034	T
BLNK	29760	genome.wustl.edu	37	10	97967644	97967644	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr10:97967644G>A	ENST00000224337.5	-	10	899	c.758C>T	c.(757-759)aCg>aTg	p.T253M	BLNK_ENST00000427367.2_Missense_Mutation_p.T253M|BLNK_ENST00000413476.2_Missense_Mutation_p.T253M|BLNK_ENST00000371176.2_Missense_Mutation_p.T230M	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	253	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CAGTGGTGTCGTTGGTTTTTT	0.313																																																	0													114.0	111.0	112.0					10																	97967644		2203	4300	6503	SO:0001583	missense	0			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.758C>T	10.37:g.97967644G>A	ENSP00000224337:p.Thr253Met		O75498|O75499|Q2MD49	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.T253M	ENST00000224337.5	37	c.758	CCDS7446.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.462|3.462	-0.109837|-0.109837	0.06924|0.06924	.|.	.|.	ENSG00000095585|ENSG00000095585	ENST00000428924|ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.|.	.|.	.|.	5.53|5.53	0.232|0.232	0.15381|0.15381	.|.	.|0.760337	.|0.13373	.|N	.|0.392764	.|T	.|0.12433	.|0.0302	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|P;P;P;B;P;P	.|0.43094	.|0.663;0.799;0.663;0.401;0.533;0.533	.|B;B;B;B;B;B	.|0.32289	.|0.143;0.143;0.143;0.022;0.068;0.068	.|T	.|0.14615	.|-1.0466	.|9	0.02654|0.39692	T|T	1|0.17	-6.0858|-6.0858	5.9857|5.9857	0.19432|0.19432	0.2438:0.0:0.6201:0.1361|0.2438:0.0:0.6201:0.1361	.|.	.|230;253;230;148;230;253	.|Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q2MD52;Q8WV28	.|.;.;.;.;.;BLNK_HUMAN	X|M	207|253;230;253;253;148	.|.	ENSP00000409992:R207X|ENSP00000224337:T253M	R|T	-|-	1|2	2|0	BLNK|BLNK	97957634|97957634	0.075000|0.075000	0.21258|0.21258	0.102000|0.102000	0.21198|0.21198	0.070000|0.070000	0.16714|0.16714	0.276000|0.276000	0.18716|0.18716	0.121000|0.121000	0.18284|0.18284	-1.053000|-1.053000	0.02334|0.02334	CGA|ACG	BLNK	-	NULL	ENSG00000095585		0.313	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	-	0.00	35	0	G	NM_013314		97967644	-1	tier1	-	no_errors	ENST00000224337	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.045	A
BNC2	54796	genome.wustl.edu	37	9	16419544	16419544	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr9:16419544C>G	ENST00000380672.4	-	7	2800	c.2743G>C	c.(2743-2745)Gaa>Caa	p.E915Q	BNC2_ENST00000545497.1_Missense_Mutation_p.E820Q|BNC2_ENST00000380667.2_Missense_Mutation_p.E848Q	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ACCAAAAATTCATCGCGGAGG	0.552																																																	0													87.0	93.0	91.0					9																	16419544		2203	4300	6503	SO:0001583	missense	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2743G>C	9.37:g.16419544C>G	ENSP00000370047:p.Glu915Gln			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E915Q	ENST00000380672.4	37	c.2743	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581496	0.46006	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.34275	1.37;1.39;1.38	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	L	0.57536	1.79	0.80722	D	1	D;D;D	0.71674	0.996;0.993;0.998	D;D;D	0.75484	0.986;0.968;0.986	T	0.54043	-0.8352	10	0.41790	T	0.15	-13.8263	19.3932	0.94594	0.0:1.0:0.0:0.0	.	820;915;680	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	Q	915;848;820	ENSP00000370047:E915Q;ENSP00000370042:E848Q;ENSP00000444640:E820Q	ENSP00000370042:E848Q	E	-	1	0	BNC2	16409544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.586000	0.87340	0.591000	0.81541	GAA	BNC2	-	NULL	ENSG00000173068		0.552	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	-	0.00	36	0	C	NM_017637		16419544	-1	tier1	-	no_errors	ENST00000380672	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	G
ERICH3	127254	genome.wustl.edu	37	1	75039106	75039106	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:75039106A>G	ENST00000326665.5	-	14	2506	c.2288T>C	c.(2287-2289)gTg>gCg	p.V763A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		763	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CGTTTTTTGCACCAATTGCTG	0.423																																																	0													94.0	97.0	96.0					1																	75039106		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.2288T>C	1.37:g.75039106A>G	ENSP00000322609:p.Val763Ala		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.V763A	ENST00000326665.5	37	c.2288	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	0.173	-1.069666	0.01918	.	.	ENSG00000178965	ENST00000326665	T	0.10288	2.89	5.26	3.39	0.38822	.	.	.	.	.	T	0.00724	0.0024	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48479	-0.9032	9	0.02654	T	1	0.1919	4.3161	0.10993	0.2337:0.0:0.5275:0.2389	.	763	Q5RHP9	CA173_HUMAN	A	763	ENSP00000322609:V763A	ENSP00000322609:V763A	V	-	2	0	C1orf173	74811694	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.448000	0.06820	0.339000	0.23719	-0.119000	0.15052	GTG	C1orf173	-	NULL	ENSG00000178965		0.423	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0.00	79	0	A			75039106	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	9.86	64	7	SNP	0.000	G
CBWD1	55871	genome.wustl.edu	37	9	123687	123687	+	Intron	DEL	G	G	-	rs56838986	byFrequency	TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr9:123687delG	ENST00000356521.4	-	12	905				CBWD1_ENST00000382447.4_Intron|CBWD1_ENST00000475411.1_Intron|CBWD1_ENST00000377400.4_Intron|CBWD1_ENST00000314367.10_Intron	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTACTACCTTGTATTTTAAAA	0.338													G|G|-|deletion	884	0.176518	0.0779	0.2478	5008	,	,		20797	0.3393		0.1014	False		,,,				2504	0.1687																0																																										SO:0001627	intron_variant	0			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.817-233C>-	9.37:g.123687delG			A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	RNA	DEL	-	NULL	ENST00000356521.4	37	NULL	CCDS6438.1	9																																																																																			CBWD1	-	-	ENSG00000172785		0.338	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	HGNC	protein_coding	OTTHUMT00000051463.1		0.00	12	0	G	NM_018491		123687	-1	tier1		no_errors	ENST00000464198	ensembl	human	known	74_37	rna	30.00	14	6	DEL	0.041	-
CDC27	996	genome.wustl.edu	37	17	45235625	45235625	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:45235625C>G	ENST00000066544.3	-	5	515	c.422G>C	c.(421-423)aGc>aCc	p.S141T	CDC27_ENST00000446365.2_Missense_Mutation_p.S80T|CDC27_ENST00000531206.1_Missense_Mutation_p.S141T|CDC27_ENST00000527547.1_Missense_Mutation_p.S141T|RP5-867C24.4_ENST00000574021.1_RNA|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	141					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAAACTAAGGCTCTTTTGGTA	0.433																																																	0													50.0	51.0	51.0					17																	45235625		2203	4300	6503	SO:0001583	missense	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.422G>C	17.37:g.45235625C>G	ENSP00000066544:p.Ser141Thr		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S141T	ENST00000066544.3	37	c.422	CCDS11509.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.92|15.92	2.974836|2.974836	0.53720|0.53720	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000533415|ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.|T;T;T;T;D	.|0.88664	.|-0.06;-0.06;-0.06;-0.06;-2.41	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86994|0.86994	0.6067|0.6067	L|L	0.38175|0.38175	1.15|1.15	0.58432|0.58432	D|D	0.999996|0.999996	.|P;B;B;B	.|0.43231	.|0.801;0.242;0.411;0.151	.|B;B;B;B	.|0.43990	.|0.438;0.108;0.147;0.102	D|D	0.87975|0.87975	0.2739|0.2739	6|10	0.87932|0.59425	D|D	0|0.04	-8.1078|-8.1078	17.2195|17.2195	0.86953|0.86953	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|80;141;141;141	.|B4DL80;G5EA36;G3V1C4;P30260	.|.;.;.;CDC27_HUMAN	P|T	92|141;141;80;141;141	.|ENSP00000066544:S141T;ENSP00000434614:S141T;ENSP00000392802:S80T;ENSP00000437339:S141T;ENSP00000432105:S141T	ENSP00000432211:A92P|ENSP00000066544:S141T	A|S	-|-	1|2	0|0	CDC27|CDC27	42590624|42590624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.840000|0.840000	0.47671|0.47671	6.861000|6.861000	0.75478|0.75478	2.667000|2.667000	0.90743|0.90743	0.585000|0.585000	0.79938|0.79938	GCC|AGC	CDC27	-	smart_TPR_repeat	ENSG00000004897		0.433	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	-	0.00	12	0	C			45235625	-1	tier1	-	no_errors	ENST00000531206	ensembl	human	known	74_37	missense	35.48	20	11	SNP	1.000	G
CDK11A	728642	genome.wustl.edu	37	1	1647791	1647791	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:1647791C>T	ENST00000378633.1	-	5	531	c.452G>A	c.(451-453)aGa>aAa	p.R151K	CDK11A_ENST00000378635.3_Missense_Mutation_p.R151K|CDK11A_ENST00000357760.2_Missense_Mutation_p.R151K|CDK11A_ENST00000378638.2_Missense_Mutation_p.R127K|CDK11A_ENST00000358779.5_Missense_Mutation_p.R151K|CDK11A_ENST00000356200.3_Missense_Mutation_p.R127K|CDK11A_ENST00000404249.3_Missense_Mutation_p.R161K|RP1-283E3.8_ENST00000598846.1_RNA			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	151	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						TCACCTTTCTCTCCTGGAATG	0.498																																					Pancreas(186;965 2119 30274 40311 50569)												0													209.0	210.0	210.0					1																	1647791		2011	4174	6185	SO:0001583	missense	0			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.452G>A	1.37:g.1647791C>T	ENSP00000367900:p.Arg151Lys		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R161K	ENST00000378633.1	37	c.482		1	.	.	.	.	.	.	.	.	.	.	-	17.72	3.459489	0.63401	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71	4.56	3.64	0.41730	.	0.671525	0.12570	U	0.457391	T	0.23926	0.0579	L	0.29908	0.895	0.43959	D	0.996633	B;D;D;D;D;P;D;D;D;B;D;P	0.71674	0.43;0.982;0.958;0.972;0.99;0.902;0.972;0.998;0.994;0.234;0.996;0.85	B;D;P;P;P;D;P;D;P;B;D;P	0.81914	0.365;0.952;0.799;0.615;0.848;0.91;0.615;0.995;0.907;0.042;0.936;0.463	T	0.01283	-1.1396	10	0.30854	T	0.27	.	11.68	0.51453	0.0:0.9143:0.0:0.0857	.	161;151;161;151;161;151;127;153;151;119;163;163	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2;P21127	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.;CD11B_HUMAN	K	127;161;151;151;151;127;127;151;151	ENSP00000348529:R127K;ENSP00000384442:R161K;ENSP00000350403:R151K;ENSP00000351629:R151K;ENSP00000367900:R151K;ENSP00000367905:R127K;ENSP00000367902:R151K;ENSP00000423900:R151K	ENSP00000348529:R127K	R	-	2	0	CDK11A	1637651	1.000000	0.71417	0.996000	0.52242	0.215000	0.24574	6.260000	0.72502	1.132000	0.42129	0.543000	0.68304	AGA	CDK11A	-	NULL	ENSG00000008128		0.498	CDK11A-005	NOVEL	basic	protein_coding	CDK11A	HGNC	protein_coding	OTTHUMT00000001735.1	-	0.00	80	0	C	NM_024011		1647791	-1	tier1	-	no_errors	ENST00000404249	ensembl	human	known	74_37	missense	10.00	72	8	SNP	1.000	T
CHGA	1113	genome.wustl.edu	37	14	93398974	93398974	+	Missense_Mutation	SNP	G	G	T	rs200576557		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr14:93398974G>T	ENST00000216492.5	+	7	1348	c.1068G>T	c.(1066-1068)aaG>aaT	p.K356N	CHGA_ENST00000334654.4_Missense_Mutation_p.K205N	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	356					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CGGCTGAGAAGCGGCTGGAGG	0.667																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												0													23.0	17.0	19.0					14																	93398974		2192	4296	6488	SO:0001583	missense	0				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.1068G>T	14.37:g.93398974G>T	ENSP00000216492:p.Lys356Asn		B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.K356N	ENST00000216492.5	37	c.1068	CCDS9906.1	14	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045609	0.55110	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.01745	4.66;4.66	4.51	3.61	0.41365	.	0.187478	0.43579	D	0.000544	T	0.08268	0.0206	M	0.77103	2.36	0.43259	D	0.995197	D;D	0.89917	1.0;0.983	D;D	0.83275	0.996;0.942	T	0.00521	-1.1691	10	0.87932	D	0	-27.611	7.7059	0.28650	0.1885:0.0:0.8115:0.0	.	205;356	G5E968;P10645	.;CMGA_HUMAN	N	356;205	ENSP00000216492:K356N;ENSP00000334023:K205N	ENSP00000216492:K356N	K	+	3	2	CHGA	92468727	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	0.877000	0.28106	2.031000	0.59945	0.555000	0.69702	AAG	CHGA	-	pfam_Granin	ENSG00000100604		0.667	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1	-	0.00	38	0	G	NM_001275		93398974	+1	tier1	-	no_errors	ENST00000216492	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
COPB2	9276	genome.wustl.edu	37	3	139077077	139077077	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:139077077T>C	ENST00000333188.5	-	21	2771	c.2590A>G	c.(2590-2592)Att>Gtt	p.I864V	COPB2_ENST00000507777.1_Missense_Mutation_p.I835V	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	864					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GAGGCCACAATAACCGGAGTA	0.443																																																	0													132.0	110.0	117.0					3																	139077077		2203	4300	6503	SO:0001583	missense	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2590A>G	3.37:g.139077077T>C	ENSP00000329419:p.Ile864Val		B4DZI8	Missense_Mutation	SNP	pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I864V	ENST00000333188.5	37	c.2590	CCDS3108.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.078|4.078	0.012397|0.012397	0.07912|0.07912	.|.	.|.	ENSG00000184432|ENSG00000184432	ENST00000333188;ENST00000507777|ENST00000503326	T;T|.	0.61859|.	0.07;0.16|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.862523|.	0.10614|.	N|.	0.654161|.	T|T	0.35885|0.35885	0.0947|0.0947	N|N	0.17082|0.17082	0.46|0.46	0.31710|0.31710	N|N	0.639634|0.639634	B|.	0.13594|.	0.008|.	B|.	0.12837|.	0.008|.	T|T	0.41538|0.41538	-0.9503|-0.9503	10|5	0.23302|.	T|.	0.38|.	-11.8238|-11.8238	11.1314|11.1314	0.48349|0.48349	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	864|.	P35606|.	COPB2_HUMAN|.	V|C	864;835|77	ENSP00000329419:I864V;ENSP00000422295:I835V|.	ENSP00000329419:I864V|.	I|Y	-|-	1|2	0|0	COPB2|COPB2	140559767|140559767	0.711000|0.711000	0.27906|0.27906	0.269000|0.269000	0.24586|0.24586	0.934000|0.934000	0.57294|0.57294	3.314000|3.314000	0.51943|0.51943	2.128000|2.128000	0.65567|0.65567	0.528000|0.528000	0.53228|0.53228	ATT|TAT	COPB2	-	pirsf_COPB2	ENSG00000184432		0.443	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	-	0.00	33	0	T	NM_004766		139077077	-1	tier1	-	no_errors	ENST00000333188	ensembl	human	known	74_37	missense	22.58	24	7	SNP	0.734	C
CHRD	8646	genome.wustl.edu	37	3	184102443	184102443	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:184102443C>A	ENST00000204604.1	+	13	1805	c.1559C>A	c.(1558-1560)gCt>gAt	p.A520D	CHRD_ENST00000545352.1_Missense_Mutation_p.A150D|CHRD_ENST00000348986.3_Missense_Mutation_p.A480D|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.A520D	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	520	CHRD 3. {ECO:0000255|PROSITE- ProRule:PRU00230}.				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)			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)			GGGCACGTGGCTGCCCTGCCC	0.607																																																	0													54.0	48.0	50.0					3																	184102443		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.1559C>A	3.37:g.184102443C>A	ENSP00000204604:p.Ala520Asp		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.A520D	ENST00000204604.1	37	c.1559	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630452	0.28978	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.44482	2.74;2.52;2.51;0.92	5.23	4.35	0.52113	CHRD (2);	0.725328	0.13745	N	0.365642	T	0.30634	0.0771	N	0.22421	0.69	0.23611	N	0.9973	P;P;B;P	0.37688	0.605;0.546;0.213;0.601	B;B;B;B	0.39771	0.309;0.075;0.148;0.175	T	0.10154	-1.0642	10	0.22109	T	0.4	-0.0794	10.6818	0.45819	0.0:0.8397:0.0:0.1603	.	150;480;520;520	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	D	520;520;480;150;233	ENSP00000204604:A520D;ENSP00000408972:A520D;ENSP00000334036:A480D;ENSP00000442948:A150D	ENSP00000204604:A520D	A	+	2	0	CHRD	185585137	0.990000	0.36364	0.984000	0.44739	0.940000	0.58332	1.474000	0.35398	1.530000	0.49136	0.655000	0.94253	GCT	CHRD	-	smart_CHRD,pirsf_Chordin,pfscan_CHRD	ENSG00000090539		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	-	0.00	20	0	C	NM_003741		184102443	+1	tier1	-	no_errors	ENST00000204604	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.823	A
CSMD1	64478	genome.wustl.edu	37	8	3200963	3200963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr8:3200963C>A	ENST00000520002.1	-	24	4042	c.3487G>T	c.(3487-3489)Gga>Tga	p.G1163*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G1162*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G1163*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G1163*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G1162*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.G1162*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G1163*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1163	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGTCTTTTCCATCATATACC	0.418																																																	0													109.0	106.0	107.0					8																	3200963		1906	4121	6027	SO:0001587	stop_gained	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3487G>T	8.37:g.3200963C>A	ENSP00000430733:p.Gly1163*		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G1163*	ENST00000520002.1	37	c.3487		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.113525|11.113525	0.99518|0.99518	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80502	.|0.4635	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77523	.|-0.2556	.|3	0.87932|.	D|.	0|.	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1163;1163;1025;1162;1162;1162|642	.|.	ENSP00000320445:G1025X|.	G|W	-|-	1|2	0|0	CSMD1|CSMD1	3188370|3188370	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.121000|0.121000	0.20230|0.20230	7.569000|7.569000	0.82380|0.82380	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGA|TGG	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183117		0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	65	0	C	NM_033225		3200963	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	nonsense	27.50	29	11	SNP	1.000	A
DDX23	9416	genome.wustl.edu	37	12	49229911	49229911	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr12:49229911T>C	ENST00000308025.3	-	11	1454	c.1375A>G	c.(1375-1377)Att>Gtt	p.I459V	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	459	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CACCTGTCAATTTTGGGAAGT	0.483																																																	0													195.0	183.0	187.0					12																	49229911		2203	4300	6503	SO:0001583	missense	0			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1375A>G	12.37:g.49229911T>C	ENSP00000310723:p.Ile459Val		B2R600|B4DH15|O43188	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.I459V	ENST00000308025.3	37	c.1375	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974772	0.53720	.	.	ENSG00000174243	ENST00000308025	T	0.14640	2.49	5.49	5.49	0.81192	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.113799	0.56097	D	0.000026	T	0.10165	0.0249	N	0.08118	0	0.58432	D	0.999998	B	0.32365	0.367	B	0.37550	0.253	T	0.28808	-1.0032	10	0.56958	D	0.05	-1.3081	14.5545	0.68091	0.0:0.0:0.0:1.0	.	459	Q9BUQ8	DDX23_HUMAN	V	459	ENSP00000310723:I459V	ENSP00000310723:I459V	I	-	1	0	DDX23	47516178	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.031000	0.70911	2.079000	0.62486	0.459000	0.35465	ATT	DDX23	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000174243		0.483	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2	-	0.00	35	0	T	NM_004818		49229911	-1	tier1	-	no_errors	ENST00000308025	ensembl	human	known	74_37	missense	40.00	12	8	SNP	1.000	C
DDX60	55601	genome.wustl.edu	37	4	169138093	169138093	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr4:169138093G>C	ENST00000393743.3	-	38	5421	c.5130C>G	c.(5128-5130)aaC>aaG	p.N1710K		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1710					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTTAGACTTTGTTTAACTTTT	0.348																																																	0													118.0	115.0	116.0					4																	169138093		2203	4300	6503	SO:0001583	missense	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.5130C>G	4.37:g.169138093G>C	ENSP00000377344:p.Asn1710Lys		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N1710K	ENST00000393743.3	37	c.5130	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.364557	0.01235	.	.	ENSG00000137628	ENST00000393743	T	0.16457	2.34	5.26	-10.5	0.00291	.	1.812950	0.02754	N	0.117768	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17930	-1.0353	10	0.11485	T	0.65	.	3.9682	0.09441	0.1337:0.2807:0.0964:0.4892	.	1710	Q8IY21	DDX60_HUMAN	K	1710	ENSP00000377344:N1710K	ENSP00000377344:N1710K	N	-	3	2	DDX60	169374668	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-6.562000	0.00061	-3.812000	0.00104	-0.310000	0.09108	AAC	DDX60	-	NULL	ENSG00000137628		0.348	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	-	0.00	74	0	G	NM_017631		169138093	-1	tier1	-	no_errors	ENST00000393743	ensembl	human	known	74_37	missense	14.29	66	11	SNP	0.000	C
DHRS12	79758	genome.wustl.edu	37	13	52364150	52364150	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr13:52364150G>T	ENST00000444610.2	-	5	458	c.445C>A	c.(445-447)Ctg>Atg	p.L149M	DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000218981.1_Missense_Mutation_p.L100M|DHRS12_ENST00000280056.2_Missense_Mutation_p.L100M	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	149							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		TACTTACCCAGAGTATTGGCA	0.308																																																	0													77.0	78.0	77.0					13																	52364150		2203	4298	6501	SO:0001583	missense	0			AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	25832	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 40C, member 1"""					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.445C>A	13.37:g.52364150G>T	ENSP00000411565:p.Leu149Met		Q96GB2|Q9H8H1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH	p.L149M	ENST00000444610.2	37	c.445	CCDS58292.1	13	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567726	0.45798	.	.	ENSG00000102796	ENST00000444610;ENST00000218981;ENST00000280056	T;T;T	0.25414	1.8;1.8;2.82	4.46	-0.513	0.11962	NAD(P)-binding domain (1);	0.197000	0.32473	N	0.006043	T	0.34135	0.0887	M	0.71296	2.17	0.09310	N	1	P;D;D	0.58620	0.851;0.983;0.976	P;P;P	0.61201	0.674;0.885;0.734	T	0.18116	-1.0347	10	0.37606	T	0.19	.	1.0569	0.01592	0.2566:0.287:0.3094:0.1471	.	100;100;149	A0PJE2-3;A0PJE2-2;A0PJE2	.;.;DHR12_HUMAN	M	149;100;100	ENSP00000411565:L149M;ENSP00000218981:L100M;ENSP00000280056:L100M	ENSP00000218981:L100M	L	-	1	2	DHRS12	51262151	0.186000	0.23225	0.000000	0.03702	0.575000	0.36095	0.411000	0.21115	-0.257000	0.09459	-0.903000	0.02851	CTG	DHRS12	-	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR	ENSG00000102796		0.308	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS12	HGNC	protein_coding	OTTHUMT00000045036.3		0.00	43	0	G	NM_024705		52364150	-1			no_errors	ENST00000444610	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.015	T
DMTN	2039	genome.wustl.edu	37	8	21938645	21938645	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr8:21938645G>T	ENST00000523266.1	+	15	1507	c.1045G>T	c.(1045-1047)Gtg>Ttg	p.V349L	DMTN_ENST00000443491.2_Missense_Mutation_p.V302L|DMTN_ENST00000519907.1_Missense_Mutation_p.V327L|DMTN_ENST00000432128.1_Missense_Mutation_p.V349L|DMTN_ENST00000415253.1_Missense_Mutation_p.V327L|DMTN_ENST00000517600.1_Missense_Mutation_p.V309L|DMTN_ENST00000265800.5_Missense_Mutation_p.V349L|DMTN_ENST00000523782.2_Missense_Mutation_p.V302L|DMTN_ENST00000381470.3_Missense_Mutation_p.V327L|DMTN_ENST00000358242.3_Missense_Mutation_p.V349L	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	349	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										TGAAATGCTAGTGGTGACCAA	0.592																																																	0													57.0	62.0	60.0					8																	21938645		2203	4300	6503	SO:0001583	missense	0			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.1045G>T	8.37:g.21938645G>T	ENSP00000427866:p.Val349Leu		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.V349L	ENST00000523266.1	37	c.1045	CCDS6020.1	8	.	.	.	.	.	.	.	.	.	.	G	9.473	1.096096	0.20552	.	.	ENSG00000158856	ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T	0.43294	1.57;1.54;1.59;0.95;1.54;1.54;1.57;1.54;1.57	4.82	3.94	0.45596	Villin headpiece (3);	.	.	.	.	T	0.16041	0.0386	N	0.04724	-0.175	0.32387	N	0.553823	P;B;B;B;B;B	0.39480	0.675;0.172;0.172;0.286;0.15;0.123	B;B;B;B;B;B	0.32393	0.145;0.037;0.037;0.051;0.027;0.038	T	0.14420	-1.0473	9	0.06891	T	0.86	.	9.0694	0.36482	0.1037:0.0:0.8963:0.0	.	288;309;349;302;302;327	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	L	327;349;302;309;309;349;288;349;327;349;327	ENSP00000370879:V327L;ENSP00000416111:V349L;ENSP00000397904:V302L;ENSP00000430618:V309L;ENSP00000265800:V349L;ENSP00000350977:V349L;ENSP00000401291:V327L;ENSP00000427866:V349L;ENSP00000429377:V327L	ENSP00000265800:V349L	V	+	1	0	EPB49	21994591	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	0.847000	0.27696	1.038000	0.40049	0.455000	0.32223	GTG	DMTN	-	superfamily_Villin_headpiece,pfscan_Villin_headpiece	ENSG00000158856		0.592	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DMTN	HGNC	protein_coding	OTTHUMT00000375178.1	-	0.00	32	0	G	NM_001978		21938645	+1	tier1	-	no_errors	ENST00000265800	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	T
DNAH8	1769	genome.wustl.edu	37	6	38874095	38874095	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr6:38874095G>C	ENST00000359357.3	+	61	8863	c.8609G>C	c.(8608-8610)gGa>gCa	p.G2870A	DNAH8_ENST00000449981.2_Missense_Mutation_p.G3087A|DNAH8_ENST00000441566.1_Missense_Mutation_p.G2834A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2870	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTGCTGATGGAAAAGGCATC	0.333																																																	0													57.0	56.0	56.0					6																	38874095		2203	4300	6503	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8609G>C	6.37:g.38874095G>C	ENSP00000352312:p.Gly2870Ala		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G2870A	ENST00000359357.3	37	c.8609		6	.	.	.	.	.	.	.	.	.	.	G	29.6	5.015759	0.93404	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.52295	0.67;0.67;0.67	5.72	5.72	0.89469	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76099	-0.3083	10	0.54805	T	0.06	.	19.8968	0.96969	0.0:0.0:1.0:0.0	.	2870	Q96JB1	DYH8_HUMAN	A	3075;3075;2870;2834	ENSP00000333363:G3075A;ENSP00000352312:G2870A;ENSP00000402294:G2834A	ENSP00000333363:G3075A	G	+	2	0	DNAH8	38982073	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.901000	0.87382	2.691000	0.91804	0.655000	0.94253	GGA	DNAH8	-	superfamily_P-loop_NTPase	ENSG00000124721		0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0.00	35	0	G	NM_001206927		38874095	+1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	C
RP11-289H16.1	0	genome.wustl.edu	37	1	144090788	144090788	+	lincRNA	SNP	C	C	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:144090788C>A	ENST00000441760.1	-	0	600				SRGAP2B_ENST00000467933.1_RNA																							ATAGAACCAGCATTGTTAACT	0.403																																																	0																																												0																															1.37:g.144090788C>A				RNA	SNP	-	NULL	ENST00000441760.1	37	NULL		1																																																																																			RP11-289H16.1	-	-	ENSG00000224363		0.403	RP11-289H16.1-001	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000224363	Clone_based_vega_gene	lincRNA	OTTHUMT00000099257.1	-	0.00	33	0	C			144090788	-1	tier1	-	no_errors	ENST00000441760	ensembl	human	known	74_37	rna	12.50	28	4	SNP	0.850	A
DPT	1805	genome.wustl.edu	37	1	168698182	168698182	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:168698182G>T	ENST00000367817.3	-	1	320	c.231C>A	c.(229-231)tgC>tgA	p.C77*		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	77	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GCGTGGGCATGCAGGCGTAGT	0.592																																																	0													169.0	132.0	145.0					1																	168698182		2203	4300	6503	SO:0001587	stop_gained	0			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.231C>A	1.37:g.168698182G>T	ENSP00000356791:p.Cys77*		A8K981|Q8N4R2|Q9UIX8	Nonsense_Mutation	SNP	NULL	p.C77*	ENST00000367817.3	37	c.231	CCDS1275.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.567240	0.97671	.	.	ENSG00000143196	ENST00000367817	.	.	.	5.0	3.12	0.35913	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0064	8.1832	0.31324	0.2485:0.0:0.7515:0.0	.	.	.	.	X	77	.	ENSP00000356791:C77X	C	-	3	2	DPT	166964806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.230000	0.51286	0.498000	0.27948	0.655000	0.94253	TGC	DPT	-	NULL	ENSG00000143196		0.592	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPT	HGNC	protein_coding	OTTHUMT00000083618.1		0.00	45	0	G	NM_001937		168698182	-1			no_errors	ENST00000367817	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	1.000	T
CEP170	9859	genome.wustl.edu	37	1	243303566	243303566	+	Intron	SNP	A	A	C			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:243303566A>C	ENST00000366542.1	-	16	4111				RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000366543.1_Intron|CEP170_ENST00000366544.1_Intron|CEP170_ENST00000490813.1_Intron|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000481987.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa							centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCTTTTTATAAGCACTTCAA	0.264																																																	0																																										SO:0001627	intron_variant	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.4060-157T>G	1.37:g.243303566A>C			O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	RNA	SNP	-	NULL	ENST00000366542.1	37	NULL	CCDS44339.1	1																																																																																			RP11-261C10.5	-	-	ENSG00000227230		0.264	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ENSG00000227230	Clone_based_vega_gene	protein_coding	OTTHUMT00000096178.2	-	0.00	30	0	A	NM_014812		243303566	+1	tier1	-	no_errors	ENST00000439562	ensembl	human	known	74_37	rna	19.35	25	6	SNP	0.001	C
ERCC2	2068	genome.wustl.edu	37	19	45860787	45860787	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr19:45860787G>A	ENST00000391945.4	-	14	1399	c.1322C>T	c.(1321-1323)tCg>tTg	p.S441L	ERCC2_ENST00000391944.3_Missense_Mutation_p.S363L	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	441	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GATGGCCAGCGAGGCGTCCAT	0.637			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""		E	0													69.0	65.0	66.0					19																	45860787		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1322C>T	19.37:g.45860787G>A	ENSP00000375809:p.Ser441Leu		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.S441L	ENST00000391945.4	37	c.1322	CCDS33049.1	19	.	.	.	.	.	.	.	.	.	.	G	31	5.086888	0.94100	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.84730	-1.67;-1.89	5.51	5.51	0.81932	.	0.271434	0.36815	N	0.002396	D	0.94503	0.8230	H	0.95187	3.635	0.80722	D	1	D;D;D	0.89917	0.995;0.988;1.0	P;P;D	0.76575	0.679;0.646;0.988	D	0.95698	0.8746	10	0.87932	D	0	-17.5001	14.9036	0.70699	0.0:0.0:1.0:0.0	.	363;441;134	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	L	391;417;441;363	ENSP00000375809:S441L;ENSP00000375808:S363L	ENSP00000375805:S391L	S	-	2	0	ERCC2	50552627	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	8.422000	0.90262	2.586000	0.87340	0.561000	0.74099	TCG	ERCC2	-	superfamily_P-loop_NTPase,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000104884		0.637	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC2	HGNC	protein_coding	OTTHUMT00000109626.2	-	0.00	44	0	G	NM_000400		45860787	-1	tier1	-	no_errors	ENST00000391945	ensembl	human	known	74_37	missense	28.12	23	9	SNP	1.000	A
ETFDH	2110	genome.wustl.edu	37	4	159624578	159624579	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr4:159624578_159624579insT	ENST00000511912.1	+	10	1452_1453	c.1120_1121insT	c.(1120-1122)atafs	p.I374fs	ETFDH_ENST00000307738.5_Frame_Shift_Ins_p.I327fs|U3_ENST00000607547.1_RNA	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	374					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TCCTCAGTCTATACCAAAACTC	0.356																																																	0																																										SO:0001589	frameshift_variant	0			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1121dupT	4.37:g.159624579_159624579dupT	ENSP00000426638:p.Ile374fs		B4E3R9|J3KND9|Q7Z347	Frame_Shift_Ins	INS	pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2	p.P375fs	ENST00000511912.1	37	c.1120_1121	CCDS3800.1	4																																																																																			ETFDH	-	NULL	ENSG00000171503		0.356	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFDH	HGNC	protein_coding	OTTHUMT00000365718.2		0.00	67	0	-			159624579	+1	tier1		no_errors	ENST00000511912	ensembl	human	known	74_37	frame_shift_ins	19.61	41	10	INS	1.000:1.000	T
FAM149A	25854	genome.wustl.edu	37	4	187078796	187078796	+	Missense_Mutation	SNP	G	G	A	rs369514269		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr4:187078796G>A	ENST00000356371.5	+	8	1525	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	FAM149A_ENST00000514153.1_Missense_Mutation_p.D218N|FAM149A_ENST00000227065.4_Missense_Mutation_p.D218N|FAM149A_ENST00000503432.1_Missense_Mutation_p.D218N|FAM149A_ENST00000502970.1_Missense_Mutation_p.D218N|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000389354.5_Missense_Mutation_p.D218N			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	509										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CGCTCACGCCGATGGAGCCAG	0.567																																																	0								G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	65.0	71.0	69.0		652,652	3.6	0.0	4		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM149A	NM_001006655.2,NM_015398.2	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	218/483,218/483	187078796	1,13005	2203	4300	6503	SO:0001583	missense	0			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1525G>A	4.37:g.187078796G>A	ENSP00000348732:p.Asp509Asn		B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	pfam_DUF3719	p.D509N	ENST00000356371.5	37	c.1525		4	.	.	.	.	.	.	.	.	.	.	G	13.53	2.266062	0.40095	0.0	1.16E-4	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.12361	2.73;2.69;2.73;2.73;2.73;2.73	5.6	3.61	0.41365	.	0.452613	0.24029	N	0.042210	T	0.15998	0.0385	L	0.55481	1.735	0.09310	N	1	P;P;D	0.63046	0.681;0.553;0.992	B;B;P	0.46479	0.123;0.084;0.518	T	0.10800	-1.0614	10	0.72032	D	0.01	-12.0356	8.0435	0.30536	0.0954:0.1662:0.7385:0.0	.	509;509;218	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	N	218;509;218;218;218;218	ENSP00000426835:D218N;ENSP00000348732:D509N;ENSP00000227065:D218N;ENSP00000427155:D218N;ENSP00000424380:D218N;ENSP00000374005:D218N	ENSP00000227065:D218N	D	+	1	0	FAM149A	187315790	0.433000	0.25562	0.026000	0.17262	0.008000	0.06430	3.264000	0.51553	2.672000	0.90937	0.549000	0.68633	GAT	FAM149A	-	NULL	ENSG00000109794		0.567	FAM149A-201	KNOWN	basic	protein_coding	FAM149A	HGNC	protein_coding		-	0.00	41	0	G	NM_001006655		187078796	+1	tier1	-	no_errors	ENST00000356371	ensembl	human	known	74_37	missense	40.00	21	14	SNP	0.006	A
FANCI	55215	genome.wustl.edu	37	15	89804864	89804864	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr15:89804864A>G	ENST00000310775.7	+	5	423	c.337A>G	c.(337-339)Att>Gtt	p.I113V	FANCI_ENST00000300027.8_Missense_Mutation_p.I113V|FANCI_ENST00000567996.1_Missense_Mutation_p.I113V|FANCI_ENST00000451393.2_5'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	113					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAATGAGTTTATTAGTGCTGT	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													183.0	181.0	182.0					15																	89804864		2200	4299	6499	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.337A>G	15.37:g.89804864A>G	ENSP00000310842:p.Ile113Val		A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.I113V	ENST00000310775.7	37	c.337	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	A	0.605	-0.827388	0.02734	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.38560	1.13;1.13;1.13	5.27	-1.32	0.09201	.	0.773311	0.11450	N	0.562874	T	0.08358	0.0208	N	0.00138	-2.015	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.48514	-0.9029	10	0.02654	T	1	-3.0355	9.6601	0.39950	0.4675:0.0:0.5325:0.0	.	113;113	Q9NVI1;Q9NVI1-1	FANCI_HUMAN;.	V	113	ENSP00000300027:I113V;ENSP00000310842:I113V;ENSP00000413249:I113V	ENSP00000300027:I113V	I	+	1	0	FANCI	87605868	1.000000	0.71417	0.199000	0.23439	0.766000	0.43426	1.280000	0.33202	-0.426000	0.07360	-0.242000	0.12053	ATT	FANCI	-	NULL	ENSG00000140525		0.393	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	-	0.00	34	0	A	NM_018193		89804864	+1	tier1	-	no_errors	ENST00000310775	ensembl	human	known	74_37	missense	20.00	28	7	SNP	0.980	G
FBXL16	146330	genome.wustl.edu	37	16	747209	747209	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr16:747209C>T	ENST00000397621.1	-	2	528	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	FBXL16_ENST00000324361.5_Missense_Mutation_p.R66Q|FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000562585.1_5'Flank	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	66	Pro-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CAGGGCAGCCCGGGACAGTGG	0.746																																																	0													4.0	5.0	5.0					16																	747209		1215	2776	3991	SO:0001583	missense	0			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.197G>A	16.37:g.747209C>T	ENSP00000380746:p.Arg66Gln		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp	p.R66Q	ENST00000397621.1	37	c.197	CCDS10421.1	16	.	.	.	.	.	.	.	.	.	.	c	4.165	0.029121	0.08054	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.59364	0.27;0.27	4.25	2.09	0.27110	.	0.351001	0.25968	N	0.027150	T	0.28400	0.0702	N	0.14661	0.345	0.22989	N	0.99847	B	0.34161	0.439	B	0.17722	0.019	T	0.07790	-1.0754	10	0.25751	T	0.34	.	5.8886	0.18896	0.4096:0.4467:0.1437:0.0	.	66	Q8N461	FXL16_HUMAN	Q	66	ENSP00000380746:R66Q;ENSP00000318674:R66Q	ENSP00000318674:R66Q	R	-	2	0	FBXL16	687210	1.000000	0.71417	0.994000	0.49952	0.420000	0.31355	1.825000	0.39081	1.919000	0.55581	0.313000	0.20887	CGG	FBXL16	-	NULL	ENSG00000127585		0.746	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	HGNC	protein_coding	OTTHUMT00000206851.2		0.00	8	0	C	NM_153350		747209	-1			no_errors	ENST00000324361	ensembl	human	known	74_37	missense	50.00	2	2	SNP	0.995	T
FBXO11	80204	genome.wustl.edu	37	2	48040404	48040405	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr2:48040404_48040405insTC	ENST00000403359.3	-	18	2267_2268	c.2195_2196insGA	c.(2194-2196)gatfs	p.D732fs	FBXO11_ENST00000434523.2_Frame_Shift_Ins_p.D156fs|FBXO11_ENST00000402508.1_Frame_Shift_Ins_p.D648fs|FBXO11_ENST00000316377.4_Frame_Shift_Ins_p.D648fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	732					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGCCACCATCTCTTCCATC	0.332			"""Mis, F, D"""		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)																																								SO:0001589	frameshift_variant	0			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2194_2195dupGA	2.37:g.48040407_48040408dupTC	ENSP00000384823:p.Asp732fs		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Frame_Shift_Ins	INS	pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.D732fs	ENST00000403359.3	37	c.2196_2195	CCDS54357.1	2																																																																																			FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	ENSG00000138081		0.332	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3		0.00	29	0	-	NM_012167, NM_018693, NM_025133		48040405	-1	tier1		no_errors	ENST00000403359	ensembl	human	known	74_37	frame_shift_ins	13.33	26	4	INS	1.000:1.000	TC
FGFR3	2261	genome.wustl.edu	37	4	1807139	1807139	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr4:1807139G>T	ENST00000260795.2	+	10	1572	c.1470G>T	c.(1468-1470)gaG>gaT	p.E490D	FGFR3_ENST00000340107.4_Missense_Mutation_p.E492D|FGFR3_ENST00000440486.2_Missense_Mutation_p.E490D|FGFR3_ENST00000481110.2_Missense_Mutation_p.E491D|FGFR3_ENST00000412135.2_Missense_Mutation_p.E378D|FGFR3_ENST00000352904.1_Missense_Mutation_p.E378D			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	490	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TCATGGCGGAGGCCATCGGCA	0.667		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																															Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"""L, E"""	0													26.0	28.0	27.0					4																	1807139		2199	4299	6498	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1470G>T	4.37:g.1807139G>T	ENSP00000260795:p.Glu490Asp		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E492D	ENST00000260795.2	37	c.1476	CCDS3353.1	4	.	.	.	.	.	.	.	.	.	.	g	15.08	2.726646	0.48833	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	3.79	1.99	0.26369	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.110516	0.64402	D	0.000011	D	0.84005	0.5377	L	0.47016	1.485	0.54753	D	0.999985	B;B;B;B	0.19583	0.001;0.002;0.027;0.037	B;B;B;B	0.20577	0.006;0.002;0.03;0.019	T	0.77683	-0.2496	10	0.49607	T	0.09	.	4.3153	0.10990	0.5519:0.0:0.4481:0.0	.	492;378;490;491	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	D	491;492;490;378;490;378	ENSP00000420533:E491D;ENSP00000339824:E492D;ENSP00000414914:E490D;ENSP00000412903:E378D;ENSP00000260795:E490D;ENSP00000231803:E378D	ENSP00000260795:E490D	E	+	3	2	FGFR3	1776937	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	0.780000	0.26760	0.920000	0.36970	0.448000	0.29417	GAG	FGFR3	-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000068078		0.667	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FGFR3	HGNC	protein_coding	OTTHUMT00000241632.2		0.00	34	0	G	NM_000142		1807139	+1			no_errors	ENST00000340107	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T
FNDC9	408263	genome.wustl.edu	37	5	156770149	156770149	+	Silent	SNP	G	G	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr5:156770149G>A	ENST00000312349.4	-	2	583	c.396C>T	c.(394-396)tgC>tgT	p.C132C	CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	132						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						AGAACTGGAGGCAGATGAAGG	0.617											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													62.0	61.0	61.0					5																	156770149		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.396C>T	5.37:g.156770149G>A		1781	A8K0Y6	Silent	SNP	superfamily_Fibronectin_type3	p.C132	ENST00000312349.4	37	c.396	CCDS4337.1	5																																																																																			FNDC9	-	NULL	ENSG00000172568		0.617	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC9	HGNC	protein_coding	OTTHUMT00000252573.2	-	0.00	43	0	G	NM_001001343		156770149	-1	tier1	-	no_errors	ENST00000312349	ensembl	human	known	74_37	silent	18.75	26	6	SNP	0.990	A
FTO	79068	genome.wustl.edu	37	16	53860093	53860093	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr16:53860093G>T	ENST00000471389.1	+	3	663	c.441G>T	c.(439-441)caG>caT	p.Q147H	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	147	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTACCTGCAGATAGAAACCA	0.493																																																	0													78.0	68.0	72.0					16																	53860093		2198	4300	6498	SO:0001583	missense	0			BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.441G>T	16.37:g.53860093G>T	ENSP00000418823:p.Gln147His		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	NULL	p.Q147H	ENST00000471389.1	37	c.441	CCDS32448.1	16	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713000	0.30413	.	.	ENSG00000140718	ENST00000471389	T	0.76968	-1.06	5.47	0.953	0.19590	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.268622	0.44688	D	0.000426	T	0.68869	0.3048	L	0.27053	0.805	0.28697	N	0.904263	D	0.62365	0.991	P	0.59288	0.855	T	0.61797	-0.6989	10	0.11485	T	0.65	-13.346	4.1373	0.10178	0.2754:0.0:0.4211:0.3036	.	147	Q9C0B1	FTO_HUMAN	H	147	ENSP00000418823:Q147H	ENSP00000418823:Q147H	Q	+	3	2	FTO	52417594	0.931000	0.31567	0.498000	0.27564	0.976000	0.68499	1.277000	0.33167	0.682000	0.31407	-0.136000	0.14681	CAG	FTO	-	NULL	ENSG00000140718		0.493	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTO	HGNC	protein_coding	OTTHUMT00000352196.1	-	0.00	27	0	G	NM_001080432		53860093	+1	tier1	-	no_errors	ENST00000471389	ensembl	human	known	74_37	missense	40.74	16	11	SNP	0.220	T
GPBP1L1	60313	genome.wustl.edu	37	1	46096321	46096321	+	Intron	SNP	T	T	C			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:46096321T>C	ENST00000290795.3	-	10	2266				GPBP1L1_ENST00000355105.3_Intron|GPBP1L1_ENST00000479235.1_Intron			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1						positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TTAAGGTTCCTTTGTAGTAAT	0.428																																																	0													97.0	77.0	84.0					1																	46096321		2203	4300	6503	SO:0001627	intron_variant	0				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.1045-43A>G	1.37:g.46096321T>C			D3DQ10|Q9H751	RNA	SNP	-	NULL	ENST00000290795.3	37	NULL	CCDS528.1	1																																																																																			GPBP1L1	-	-	ENSG00000159592		0.428	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPBP1L1	HGNC	protein_coding	OTTHUMT00000098375.1	-	0.00	50	0	T	NM_021639		46096321	-1	tier1	-	no_errors	ENST00000487436	ensembl	human	known	74_37	rna	26.79	41	15	SNP	0.012	C
GRM8	2918	genome.wustl.edu	37	7	126173450	126173450	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr7:126173450G>T	ENST00000339582.2	-	9	2794	c.1986C>A	c.(1984-1986)agC>agA	p.S662R	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S662R|GRM8_ENST00000444921.2_Missense_Mutation_p.S662R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	662					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.S662S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGGCTGCATAGCTGAAACACA	0.448										HNSCC(24;0.065)																																							1	Substitution - coding silent(1)	lung(1)											94.0	89.0	90.0					7																	126173450		2203	4300	6503	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1986C>A	7.37:g.126173450G>T	ENSP00000344173:p.Ser662Arg		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.S662R	ENST00000339582.2	37	c.1986	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123754	0.56613	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88586	-2.4;-2.4;-2.4	5.75	1.94	0.25998	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93038	0.7784	M	0.81341	2.54	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.968	D	0.91721	0.5389	10	0.87932	D	0	.	8.9958	0.36052	0.3536:0.0:0.6464:0.0	.	662;662	O00222-2;O00222	.;GRM8_HUMAN	R	662	ENSP00000344173:S662R;ENSP00000409790:S662R;ENSP00000351142:S662R	ENSP00000344173:S662R	S	-	3	2	GRM8	125960686	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.928000	0.28831	0.377000	0.24735	0.655000	0.94253	AGC	GRM8	-	pfam_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,pfscan_GPCR_3_C	ENSG00000179603		0.448	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4		0.00	49	0	G			126173450	-1			no_errors	ENST00000339582	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T
GYLTL1B	120071	genome.wustl.edu	37	11	45949867	45949867	+	Missense_Mutation	SNP	C	C	A	rs150478912		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr11:45949867C>A	ENST00000531526.1	+	13	2005	c.1894C>A	c.(1894-1896)Cgc>Agc	p.R632S	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R632S|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R601S|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R632S|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R601S	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	632					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CTATGATCCTCGCTTTGTGGG	0.627																																																	0													159.0	156.0	157.0					11																	45949867		2203	4299	6502	SO:0001583	missense	0				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1894C>A	11.37:g.45949867C>A	ENSP00000432869:p.Arg632Ser		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.R632S	ENST00000531526.1	37	c.1894	CCDS31473.1	11	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541980	0.85917	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.988	D;D;D	0.97110	1.0;0.996;0.925	T	0.68345	-0.5433	10	0.66056	D	0.02	-29.3598	14.9392	0.70980	0.2112:0.7888:0.0:0.0	.	601;601;632	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	S	601;632;632;632;601	ENSP00000431932:R601S;ENSP00000432869:R632S;ENSP00000385235:R632S;ENSP00000324570:R632S;ENSP00000445044:R601S	ENSP00000324570:R632S	R	+	1	0	GYLTL1B	45906443	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	2.266000	0.43320	2.610000	0.88304	0.561000	0.74099	CGC	GYLTL1B	-	NULL	ENSG00000165905		0.627	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GYLTL1B	HGNC	protein_coding	OTTHUMT00000392572.1		0.00	43	0	C	NM_152312		45949867	+1			no_errors	ENST00000325468	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A
HELZ2	85441	genome.wustl.edu	37	20	62203295	62203295	+	Intron	SNP	G	G	A	rs75418499	byFrequency	TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr20:62203295G>A	ENST00000467148.1	-	1	348				HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCTCCTGGGAGCCTCTGGCTC	0.677																																																	0																																										SO:0001627	intron_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.278+165C>T	20.37:g.62203295G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	RNA	SNP	-	NULL	ENST00000467148.1	37	NULL	CCDS33508.1	20																																																																																			HELZ2	-	-	ENSG00000130589		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0.00	26	0	G	NM_001037335		62203295	-1	tier1	rs75418499	no_errors	ENST00000479540	ensembl	human	known	74_37	rna	21.05	15	4	SNP	0.747	A
HMGB1P5	10354	genome.wustl.edu	37	3	22424366	22424366	+	RNA	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:22424366G>T	ENST00000451497.1	+	0	931									high mobility group box 1 pseudogene 5																		CTGTTTTGTTGACATTCTGAA	0.333																																																	0																																												0			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22424366G>T				RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-	ENSG00000132967		0.333	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1		0.00	10	0	G	NG_000897		22424366	+1			no_errors	ENST00000451497	ensembl	human	known	74_37	rna	100.00	0	3	SNP	1.000	T
HOXA3	3200	genome.wustl.edu	37	7	27148113	27148113	+	Silent	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr7:27148113C>T	ENST00000396352.4	-	3	952	c.753G>A	c.(751-753)aaG>aaA	p.K251K	HOXA3_ENST00000317201.2_Silent_p.K251K|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	251					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGCCCTTGCCCTTCTGATCCT	0.597																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)												0													159.0	142.0	148.0					7																	27148113		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.753G>A	7.37:g.27148113C>T			A4D181	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.K251	ENST00000396352.4	37	c.753	CCDS5404.1	7																																																																																			HOXA3	-	superfamily_Homeodomain-like,smart_Homeobox_dom	ENSG00000105997		0.597	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA3	HGNC	protein_coding	OTTHUMT00000358708.2	-	0.00	53	0	C			27148113	-1	tier1	-	no_errors	ENST00000317201	ensembl	human	known	74_37	silent	38.10	39	24	SNP	1.000	T
HS6ST1	9394	genome.wustl.edu	37	2	129075877	129075877	+	Missense_Mutation	SNP	G	G	T	rs200979099		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr2:129075877G>T	ENST00000259241.6	-	1	274	c.261C>A	c.(259-261)gaC>gaA	p.D87E	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	87					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		AGACGATCACGTCGTCGCCCT	0.657																																																	0													10.0	16.0	14.0					2																	129075877		1658	4004	5662	SO:0001583	missense	0			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.261C>A	2.37:g.129075877G>T	ENSP00000259241:p.Asp87Glu		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.D87E	ENST00000259241.6	37	c.261	CCDS42748.1	2	.	.	.	.	.	.	.	.	.	.	g	21.7	4.181914	0.78677	.	.	ENSG00000136720	ENST00000259241	T	0.74947	-0.89	3.69	2.78	0.32641	.	0.000000	0.85682	U	0.000000	D	0.84924	0.5580	M	0.88031	2.925	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	D	0.84908	0.0846	9	.	.	.	.	6.5213	0.22277	0.2434:0.0:0.7566:0.0	.	87	O60243	H6ST1_HUMAN	E	87	ENSP00000259241:D87E	.	D	-	3	2	HS6ST1	128792347	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.938000	0.40203	1.600000	0.50102	0.313000	0.20887	GAC	HS6ST1	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000136720		0.657	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	-	0.00	10	0	G	NM_004807		129075877	-1	tier1	rs200979099	no_errors	ENST00000259241	ensembl	human	known	74_37	missense	39.13	14	9	SNP	1.000	T
IDE	3416	genome.wustl.edu	37	10	94291633	94291633	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr10:94291633C>A	ENST00000265986.6	-	4	589	c.533G>T	c.(532-534)tGc>tTc	p.C178F		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	178					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TCTGTCTTTGCAACTTTCATC	0.373																																																	0													76.0	70.0	72.0					10																	94291633		2203	4300	6503	SO:0001583	missense	0			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.533G>T	10.37:g.94291633C>A	ENSP00000265986:p.Cys178Phe		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.C178F	ENST00000265986.6	37	c.533	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746717	0.89663	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T;T	0.16897	2.31;2.31	5.62	5.62	0.85841	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	L	0.54965	1.715	0.80722	D	1	D	0.56521	0.976	D	0.67231	0.95	T	0.04607	-1.0939	10	0.62326	D	0.03	-10.4375	19.6584	0.95853	0.0:1.0:0.0:0.0	.	178	P14735	IDE_HUMAN	F	178;164	ENSP00000265986:C178F;ENSP00000408850:C164F	ENSP00000265986:C178F	C	-	2	0	IDE	94281613	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.747000	0.85070	2.646000	0.89796	0.655000	0.94253	TGC	IDE	-	pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	ENSG00000119912		0.373	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	-	0.00	28	0	C	NM_004969		94291633	-1	tier1	-	no_errors	ENST00000265986	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A
IRX6	79190	genome.wustl.edu	37	16	55361662	55361662	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr16:55361662T>A	ENST00000290552.7	+	4	1910	c.578T>A	c.(577-579)gTg>gAg	p.V193E	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	193					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CTCACCCAGGTGTCCACCTGG	0.572																																																	0													132.0	107.0	115.0					16																	55361662		2198	4300	6498	SO:0001583	missense	0			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.578T>A	16.37:g.55361662T>A	ENSP00000290552:p.Val193Glu		B2RN06|Q7Z2K0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.V193E	ENST00000290552.7	37	c.578	CCDS32449.1	16	.	.	.	.	.	.	.	.	.	.	T	34	5.374205	0.95923	.	.	ENSG00000159387	ENST00000290552	D	0.90620	-2.7	5.97	5.97	0.96955	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98539	1.0631	10	0.87932	D	0	-32.1949	16.1119	0.81270	0.0:0.0:0.0:1.0	.	193;92	P78412;Q9BZI2	IRX6_HUMAN;.	E	193	ENSP00000290552:V193E	ENSP00000290552:V193E	V	+	2	0	IRX6	53919163	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.950000	0.87804	2.288000	0.76882	0.533000	0.62120	GTG	IRX6	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000159387		0.572	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4	-	0.00	61	0	T	NM_024335		55361662	+1	tier1	-	no_errors	ENST00000290552	ensembl	human	known	74_37	missense	18.64	47	11	SNP	1.000	A
KIAA1024	23251	genome.wustl.edu	37	15	79750680	79750680	+	Nonsense_Mutation	SNP	A	A	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr15:79750680A>T	ENST00000305428.3	+	2	2266	c.2191A>T	c.(2191-2193)Aga>Tga	p.R731*		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	731						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAACTCGCCCAGAGACTGGCG	0.507																																																	0													78.0	75.0	76.0					15																	79750680		2196	4293	6489	SO:0001587	stop_gained	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2191A>T	15.37:g.79750680A>T	ENSP00000307461:p.Arg731*		A7MD43	Nonsense_Mutation	SNP	pfam_UPF0258	p.R731*	ENST00000305428.3	37	c.2191	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	A	39	7.901596	0.98551	.	.	ENSG00000169330	ENST00000305428	.	.	.	5.68	-5.97	0.02227	.	0.097765	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	23.8086	0.99986	0.1991:0.8009:0.0:0.0	.	.	.	.	X	731	.	.	R	+	1	2	KIAA1024	77537735	0.015000	0.18098	0.595000	0.28798	0.696000	0.40369	0.209000	0.17435	-0.944000	0.03686	-0.331000	0.08364	AGA	KIAA1024	-	NULL	ENSG00000169330		0.507	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	-	0.00	25	0	A	NM_015206		79750680	+1	tier1	-	no_errors	ENST00000305428	ensembl	human	known	74_37	nonsense	25.64	29	10	SNP	0.121	T
LENG8	114823	genome.wustl.edu	37	19	54968055	54968055	+	Silent	SNP	G	G	C			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr19:54968055G>C	ENST00000326764.5	+	11	2165	c.1686G>C	c.(1684-1686)ctG>ctC	p.L562L	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	525										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGCACTACCTGCGCCTCACCT	0.652																																																	0													43.0	38.0	40.0					19																	54968055		2203	4298	6501	SO:0001819	synonymous_variant	0			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1686G>C	19.37:g.54968055G>C			B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.L562	ENST00000326764.5	37	c.1686	CCDS12894.1	19																																																																																			LENG8	-	NULL	ENSG00000167615		0.652	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	HGNC	protein_coding	OTTHUMT00000140523.2	-	0.00	49	0	G	NM_052925		54968055	+1	tier1	-	no_errors	ENST00000326764	ensembl	human	known	74_37	silent	30.56	25	11	SNP	1.000	C
LGR6	59352	genome.wustl.edu	37	1	202278273	202278273	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:202278273G>T	ENST00000367278.3	+	15	1464	c.1375G>T	c.(1375-1377)Gcc>Tcc	p.A459S	LGR6_ENST00000255432.7_Missense_Mutation_p.A407S|LGR6_ENST00000439764.2_Missense_Mutation_p.A320S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	459					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTCTCCCAGGCCTTCTCCAA	0.582																																																	0													109.0	93.0	98.0					1																	202278273		2203	4300	6503	SO:0001583	missense	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1375G>T	1.37:g.202278273G>T	ENSP00000356247:p.Ala459Ser		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	p.A459S	ENST00000367278.3	37	c.1375	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327353	0.24080	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.24350	5.49;4.32;1.86	5.64	1.58	0.23477	.	0.464580	0.24703	N	0.036295	T	0.13798	0.0334	L	0.38175	1.15	0.28385	N	0.919331	B;B;B	0.30584	0.286;0.123;0.015	B;B;B	0.28709	0.093;0.055;0.01	T	0.24190	-1.0167	10	0.11794	T	0.64	.	3.965	0.09428	0.1445:0.3735:0.3704:0.1117	.	320;407;459	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	S	459;407;320	ENSP00000356247:A459S;ENSP00000255432:A407S;ENSP00000387869:A320S	ENSP00000255432:A407S	A	+	1	0	LGR6	200544896	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	1.750000	0.38329	0.035000	0.15519	0.561000	0.74099	GCC	LGR6	-	NULL	ENSG00000133067		0.582	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	-	0.00	59	0	G	NM_021636		202278273	+1	tier1	-	no_errors	ENST00000367278	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.985	T
LIPH	200879	genome.wustl.edu	37	3	185252682	185252682	+	Silent	SNP	G	G	C			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:185252682G>C	ENST00000296252.4	-	2	429	c.288C>G	c.(286-288)ctC>ctG	p.L96L	LIPH_ENST00000424591.2_Silent_p.L96L	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	96					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTTCAACAGAGAGCAAACCCT	0.438																																																	0													129.0	122.0	125.0					3																	185252682		2203	4300	6503	SO:0001819	synonymous_variant	0			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.288C>G	3.37:g.185252682G>C			A2IBA7|Q8TEC7	Silent	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.L96	ENST00000296252.4	37	c.288	CCDS3272.1	3																																																																																			LIPH	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000163898		0.438	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	-	0.00	41	0	G			185252682	-1	tier1	-	no_errors	ENST00000296252	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.059	C
LRP6	4040	genome.wustl.edu	37	12	12311822	12311822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr12:12311822delC	ENST00000261349.4	-	12	2808	c.2732delG	c.(2731-2733)ggtfs	p.G911fs	LRP6_ENST00000543091.1_Frame_Shift_Del_p.G911fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	911	EGF-like 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACAAACAAAACCCCCAACTGG	0.507																																																	0													122.0	110.0	114.0					12																	12311822		2203	4300	6503	SO:0001589	frameshift_variant	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2732delG	12.37:g.12311822delC	ENSP00000261349:p.Gly911fs		Q17RZ2	Frame_Shift_Del	DEL	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G911fs	ENST00000261349.4	37	c.2732	CCDS8647.1	12																																																																																			LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_EG-like_dom	ENSG00000070018		0.507	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1		0.00	31	0	C			12311822	-1	tier1		no_errors	ENST00000261349	ensembl	human	known	74_37	frame_shift_del	24.44	34	11	DEL	1.000	-
LRRC32	2615	genome.wustl.edu	37	11	76370908	76370908	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr11:76370908C>T	ENST00000407242.2	-	3	1971	c.1729G>A	c.(1729-1731)Ggc>Agc	p.G577S	LRRC32_ENST00000260061.5_Missense_Mutation_p.G577S|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.G577S	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	577	LRRCT.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGCCATTGCCGCAGCAGCTG	0.667																																																	0													28.0	29.0	29.0					11																	76370908		2199	4290	6489	SO:0001583	missense	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1729G>A	11.37:g.76370908C>T	ENSP00000384126:p.Gly577Ser		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.G577S	ENST00000407242.2	37	c.1729	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587594	0.46110	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.34472	1.36;1.36;1.36	4.44	4.44	0.53790	.	0.440664	0.24599	N	0.037157	T	0.28962	0.0719	L	0.53249	1.67	0.37110	D	0.900294	P	0.49253	0.921	B	0.35859	0.212	T	0.36163	-0.9759	10	0.08179	T	0.78	.	17.244	0.87022	0.0:1.0:0.0:0.0	.	577	Q14392	LRC32_HUMAN	S	577	ENSP00000260061:G577S;ENSP00000384126:G577S;ENSP00000385766:G577S	ENSP00000260061:G577S	G	-	1	0	LRRC32	76048556	.	.	0.964000	0.40570	0.894000	0.52154	.	.	2.301000	0.77427	0.491000	0.48974	GGC	LRRC32	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000137507		0.667	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0.00	34	0	C	NM_005512		76370908	-1	tier1	-	no_errors	ENST00000260061	ensembl	human	known	74_37	missense	30.00	42	18	SNP	0.974	T
MATN2	4147	genome.wustl.edu	37	8	99039880	99039880	+	Missense_Mutation	SNP	T	T	C	rs554199301		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr8:99039880T>C	ENST00000520016.1	+	13	2303	c.2179T>C	c.(2179-2181)Tac>Cac	p.Y727H	RPL30_ENST00000518164.1_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.Y727H|MATN2_ENST00000522025.2_Missense_Mutation_p.Y443H|MATN2_ENST00000254898.5_Missense_Mutation_p.Y727H|MATN2_ENST00000524308.1_Missense_Mutation_p.Y686H			O00339	MATN2_HUMAN	matrilin 2	727	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCACATGAAATACATGGGAAA	0.517																																																	0													54.0	54.0	54.0					8																	99039880		1866	4098	5964	SO:0001583	missense	0			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.2179T>C	8.37:g.99039880T>C	ENSP00000430487:p.Tyr727His		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.Y727H	ENST00000520016.1	37	c.2179	CCDS55264.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.429550|4.429550	0.83776|0.83776	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000518154;ENST00000517321|ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016	.|T;T;T;T;T	.|0.80909	.|-1.43;-1.43;-1.43;-1.43;-1.43	5.24|5.24	5.24|5.24	0.73138|0.73138	.|von Willebrand factor, type A (3);	.|0.000000	.|0.56097	.|D	.|0.000029	D|D	0.90403|0.90403	0.6996|0.6996	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;0.999	D|D	0.90536|0.90536	0.4499|0.4499	5|10	.|0.38643	.|T	.|0.18	-40.9105|-40.9105	15.4341|15.4341	0.75129|0.75129	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|727;727;727	.|E9PF03;O00339-2;O00339	.|.;.;MATN2_HUMAN	T|H	509;160|727;727;686;686;443;727	.|ENSP00000429977:Y727H;ENSP00000254898:Y727H;ENSP00000430221:Y686H;ENSP00000429010:Y443H;ENSP00000430487:Y727H	.|ENSP00000254898:Y727H	I|Y	+|+	2|1	0|0	MATN2|MATN2	99109056|99109056	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	7.997000|7.997000	0.88414|0.88414	2.104000|2.104000	0.64026|0.64026	0.454000|0.454000	0.30748|0.30748	ATA|TAC	MATN2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000132561		0.517	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	-	0.00	20	0	T			99039880	+1	tier1	-	no_errors	ENST00000254898	ensembl	human	known	74_37	missense	28.57	35	14	SNP	1.000	C
MIR522	574495	genome.wustl.edu	37	19	54255702	54255702	+	RNA	SNP	G	G	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr19:54255702G>A	ENST00000385071.1	+	0	87				MIR527_ENST00000385244.1_RNA|RNU6-751P_ENST00000516382.1_RNA|MIR519A1_ENST00000385257.1_RNA	NR_030217.1				microRNA 522																		TGAAAGAAAGGAAAGTGCATC	0.418																																																	0													147.0	140.0	142.0					19																	54255702		1568	3582	5150			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207806	ENSG00000207806		"""ncRNAs / Micro RNAs"""	32127	non-coding RNA	RNA, micro				MIRN522			Standard	NR_030217		Approved	hsa-mir-522	uc021vat.1				19.37:g.54255702G>A				RNA	SNP	-	NULL	ENST00000385071.1	37	NULL		19																																																																																			MIR519A1	-	-	ENSG00000207992		0.418	MIR522-201	KNOWN	basic	miRNA	MIR519A1	HGNC	miRNA		-	0.00	80	0	G	NR_030217		54255702	+1	tier1	-	no_errors	ENST00000385257	ensembl	human	known	74_37	rna	20.59	54	14	SNP	0.005	A
MKI67	4288	genome.wustl.edu	37	10	129908757	129908757	+	Silent	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr10:129908757C>T	ENST00000368654.3	-	12	2676	c.2301G>A	c.(2299-2301)ccG>ccA	p.P767P	MKI67_ENST00000368653.3_Silent_p.P407P|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	767					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)				TTGTCAACTGCGGTTGCTCCT	0.403																																																	0													145.0	146.0	146.0					10																	129908757		2203	4300	6503	SO:0001819	synonymous_variant	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.2301G>A	10.37:g.129908757C>T			Q5VWH2	Silent	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.P767	ENST00000368654.3	37	c.2301	CCDS7659.1	10																																																																																			MKI67	-	NULL	ENSG00000148773		0.403	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1		0.00	25	0	C	NM_002417		129908757	-1			no_errors	ENST00000368654	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.000	T
MRAS	22808	genome.wustl.edu	37	3	138116171	138116171	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:138116171G>A	ENST00000289104.4	+	3	846	c.199G>A	c.(199-201)Gac>Aac	p.D67N	MRAS_ENST00000464896.1_5'UTR|MRAS_ENST00000474559.1_Missense_Mutation_p.D67N|MRAS_ENST00000423968.2_Missense_Mutation_p.D67N	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	67					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCCAGTTCTGGACACAGCTGG	0.607																																																	0													63.0	49.0	54.0					3																	138116171		2203	4300	6503	SO:0001583	missense	0			AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.199G>A	3.37:g.138116171G>A	ENSP00000289104:p.Asp67Asn		B4DIK0|Q86WX8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D67N	ENST00000289104.4	37	c.199	CCDS3100.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.224779	0.95173	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000474559	D;D;D	0.93763	-3.28;-3.28;-3.28	5.25	5.25	0.73442	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98435	0.9479	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99659	1.0993	10	0.87932	D	0	.	16.3372	0.83068	0.0:0.0:1.0:0.0	.	67	O14807	RASM_HUMAN	N	67	ENSP00000289104:D67N;ENSP00000389682:D67N;ENSP00000418356:D67N	ENSP00000289104:D67N	D	+	1	0	MRAS	139598861	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.860000	0.99555	2.451000	0.82905	0.561000	0.74099	GAC	MRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000158186		0.607	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRAS	HGNC	protein_coding	OTTHUMT00000357990.1	-	0.00	34	0	G			138116171	+1	tier1	-	no_errors	ENST00000289104	ensembl	human	known	74_37	missense	25.45	41	14	SNP	1.000	A
MT-CO1	4512	genome.wustl.edu	37	M	6734	6734	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chrM:6734G>A	ENST00000361624.2	+	1	831	c.831G>A	c.(829-831)atG>atA	p.M277I	MT-CO3_ENST00000362079.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TY_ENST00000387409.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	277					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GTCTGAGCTATGATATCAATT	0.393																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.831G>A	M.37:g.6734G>A	ENSP00000354499:p.Met277Ile		Q34770	Silent	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.M277	ENST00000361624.2	37	c.831		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom	ENSG00000198804		0.393	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	15	0	G	YP_003024028		6734	+1	tier1	rs41413745	no_errors	ENST00000361624	ensembl	human	known	74_37	silent	75.00	2	6	SNP	NULL	A
MTR	4548	genome.wustl.edu	37	1	237057959	237057959	+	Intron	DEL	T	T	-			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:237057959delT	ENST00000366577.5	+	30	3799				MTR_ENST00000535889.1_Intron|MTR_ENST00000470570.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AACCAGTGTCTTTTTTTTTTT	0.463																																																	0																																										SO:0001627	intron_variant	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3405+102T>-	1.37:g.237057959delT			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	RNA	DEL	-	NULL	ENST00000366577.5	37	NULL	CCDS1614.1	1																																																																																			MTR	-	-	ENSG00000116984		0.463	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2		0.00	9	0	T	NM_000254		237057959	+1	tier1		no_errors	ENST00000470570	ensembl	human	known	74_37	rna	28.57	5	2	DEL	0.000	-
NAIF1	203245	genome.wustl.edu	37	9	130826154	130826154	+	Silent	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr9:130826154C>T	ENST00000373078.4	-	2	756	c.537G>A	c.(535-537)acG>acA	p.T179T	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	179					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCTCCTCCAGCGTGTGATAGG	0.602																																																	0													45.0	49.0	48.0					9																	130826154		2203	4300	6503	SO:0001819	synonymous_variant	0			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.537G>A	9.37:g.130826154C>T			B3KV81|Q8WU12	Silent	SNP	NULL	p.T179	ENST00000373078.4	37	c.537	CCDS6889.1	9																																																																																			NAIF1	-	NULL	ENSG00000171169		0.602	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIF1	HGNC	protein_coding	OTTHUMT00000054330.1	-	0.00	25	0	C	NM_197956		130826154	-1	tier1	-	no_errors	ENST00000373078	ensembl	human	known	74_37	silent	48.15	14	13	SNP	0.005	T
NLRP1	22861	genome.wustl.edu	37	17	5462637	5462637	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:5462637G>T	ENST00000572272.1	-	4	1378	c.1379C>A	c.(1378-1380)aCc>aAc	p.T460N	NLRP1_ENST00000354411.3_Missense_Mutation_p.T460N|NLRP1_ENST00000345221.3_Missense_Mutation_p.T460N|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.T460N|NLRP1_ENST00000577119.1_Missense_Mutation_p.T460N|NLRP1_ENST00000269280.4_Missense_Mutation_p.T460N			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	460	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAGAGCTGTGGTCCGAGCCGT	0.552																																																	0													41.0	42.0	41.0					17																	5462637		2203	4300	6503	SO:0001583	missense	0			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1379C>A	17.37:g.5462637G>T	ENSP00000460475:p.Thr460Asn		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.T460N	ENST00000572272.1	37	c.1379	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748182	0.49257	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.45	-1.86	0.07760	NACHT nucleoside triphosphatase (1);	0.385935	0.19110	N	0.122475	T	0.80292	0.4596	M	0.64404	1.975	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.79784	0.988;0.988;0.989;0.988;0.993	T	0.67887	-0.5554	10	0.39692	T	0.17	.	4.3211	0.11018	0.192:0.0:0.2655:0.5424	.	460;460;460;460;460	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	N	460	ENSP00000442029:T460N;ENSP00000262467:T460N;ENSP00000269280:T460N;ENSP00000346390:T460N;ENSP00000324366:T460N	ENSP00000262467:T460N	T	-	2	0	NLRP1	5403361	0.251000	0.23961	0.000000	0.03702	0.111000	0.19643	1.822000	0.39052	-0.124000	0.11724	0.650000	0.86243	ACC	NLRP1	-	pfscan_NACHT_NTPase	ENSG00000091592		0.552	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	-	0.00	37	0	G	NM_033004		5462637	-1	tier1	-	no_errors	ENST00000572272	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.013	T
NOTCH1	4851	genome.wustl.edu	37	9	139402553	139402553	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr9:139402553A>T	ENST00000277541.6	-	21	3439	c.3364T>A	c.(3364-3366)Tgt>Agt	p.C1122S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1122	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGTCCACACAGAGCCCTCCA	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													26.0	31.0	30.0					9																	139402553		2053	4174	6227	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3364T>A	9.37:g.139402553A>T	ENSP00000277541:p.Cys1122Ser		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.C1122S	ENST00000277541.6	37	c.3364	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365016	0.61513	.	.	ENSG00000148400	ENST00000277541	D	0.99992	-12.4	5.01	5.01	0.66863	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.99074	4.42	0.80722	D	1	D	0.60575	0.988	D	0.66847	0.947	D	0.99988	1.3617	10	0.72032	D	0.01	.	13.9019	0.63809	1.0:0.0:0.0:0.0	.	1122	P46531	NOTC1_HUMAN	S	1122	ENSP00000277541:C1122S	ENSP00000277541:C1122S	C	-	1	0	NOTCH1	138522374	1.000000	0.71417	0.161000	0.22692	0.004000	0.04260	9.220000	0.95180	1.881000	0.54492	0.533000	0.62120	TGT	NOTCH1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0.00	52	0	A	NM_017617		139402553	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	68.63	16	35	SNP	1.000	T
NTM	50863	genome.wustl.edu	37	11	132206566	132206566	+	3'UTR	DEL	T	T	-	rs61142048|rs368958484	byFrequency	TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr11:132206566delT	ENST00000374786.1	+	0	3040				NTM_ENST00000374791.3_3'UTR|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTAGGTAATCTTTTTTTTTTT	0.458													|||unknown(HR)	1219	0.243411	0.2564	0.1729	5008	,	,		17993	0.2639		0.1282	False		,,,				2504	0.3732																0																																										SO:0001624	3_prime_UTR_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.*1526T>-	11.37:g.132206566delT			A0MTT2|Q6UXJ3|Q86VJ9	RNA	DEL	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			NTM	-	-	ENSG00000182667		0.458	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1		0.00	11	0	T	NM_016522		132206566	+1	tier1		no_errors	ENST00000474900	ensembl	human	known	74_37	rna	36.84	12	7	DEL	0.131	-
OR10G4	390264	genome.wustl.edu	37	11	123886307	123886307	+	Missense_Mutation	SNP	C	C	T	rs113664910|rs79057843|rs386758378	byFrequency	TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr11:123886307C>T	ENST00000320891.4	+	1	26	c.26C>T	c.(25-27)gCa>gTa	p.A9V		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A9V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTCGTGACAGCATTCATCCTC	0.537													N|||	1550	0.309505	0.2587	0.3357	5008	,	,		19587	0.2093		0.4334	False		,,,				2504	0.3354																1	Substitution - Missense(1)	stomach(1)						T	VAL/ALA	1313,3091		219,875,1108	147.0	104.0	118.0		26	-5.4	0.0	11	dbSNP_131	118	3678,4920		878,1922,1499	no	missense	OR10G4	NM_001004462.1	64	1097,2797,2607	TT,TC,CC		42.7774,29.8138,38.3864	benign	9/312	123886307	4991,8011	2202	4299	6501	SO:0001583	missense	0			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.26C>T	11.37:g.123886307C>T	ENSP00000325076:p.Ala9Val		Q6IEW0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A9V	ENST00000320891.4	37	c.26	CCDS31702.1	11	605	0.27701465201465203	95	0.19308943089430894	118	0.3259668508287293	127	0.22202797202797203	265	0.3496042216358839	c	9.683	1.149889	0.21371	0.298138	0.427774	ENSG00000254737	ENST00000320891	T	0.01099	5.34	3.49	-5.4	0.02656	.	1.466740	0.04179	N	0.326156	T	0.00012	0.0000	N	0.02842	-0.48	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.42849	-0.9427	9	0.66056	D	0.02	.	2.0899	0.03655	0.2112:0.362:0.0864:0.3405	.	9	Q8NGN3	O10G4_HUMAN	V	9	ENSP00000325076:A9V	ENSP00000325076:A9V	A	+	2	0	OR10G4	123391517	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.071000	0.01378	-2.100000	0.00848	-4.499000	0.00005	GCA	OR10G4	-	NULL	ENSG00000254737		0.537	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	HGNC	protein_coding	OTTHUMT00000387268.1		0.00	31	0	C	NM_001004462		123886307	+1			no_errors	ENST00000320891	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.000	T
OR4Q3	441669	genome.wustl.edu	37	14	20215877	20215877	+	Silent	SNP	A	A	G			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr14:20215877A>G	ENST00000331723.1	+	1	291	c.291A>G	c.(289-291)ggA>ggG	p.G97G		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTTTTCAGGATGCCTGGCCC	0.473																																																	0													60.0	62.0	61.0					14																	20215877		2203	4297	6500	SO:0001819	synonymous_variant	0			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.291A>G	14.37:g.20215877A>G			Q6IEX4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G97	ENST00000331723.1	37	c.291	CCDS32020.1	14																																																																																			OR4Q3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000182652		0.473	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	HGNC	protein_coding	OTTHUMT00000409818.2	-	0.00	149	0	A			20215877	+1	tier1	-	no_errors	ENST00000331723	ensembl	human	known	74_37	silent	9.09	130	13	SNP	0.612	G
PCDHGA8	9708	genome.wustl.edu	37	5	140773296	140773296	+	Missense_Mutation	SNP	A	A	G	rs189824439		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr5:140773296A>G	ENST00000398604.2	+	1	916	c.916A>G	c.(916-918)Agt>Ggt	p.S306G	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	306	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAGCAAAAAGTCTAGATTA	0.368													.|||	1	0.000199681	0.0	0.0	5008	,	,		20157	0.0		0.001	False		,,,				2504	0.0																0								A	,GLY/SER,,,,,,,,,,,GLY/SER	0,3640		0,0,1820	97.0	102.0	101.0		,916,,,,,,,,,,,916	-0.5	0.0	5		101	7,8155		0,7,4074	no	intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHGB4,PCDHGA8,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_014004.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032088.1	,56,,,,,,,,,,,56	0,7,5894	GG,GA,AA		0.0858,0.0,0.0593	,,,,,,,,,,,,	,306/821,,,,,,,,,,,306/933	140773296	7,11795	1820	4081	5901	SO:0001583	missense	0			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.916A>G	5.37:g.140773296A>G	ENSP00000381605:p.Ser306Gly		A7MCZ4|O15039	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S306G	ENST00000398604.2	37	c.916	CCDS47291.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	4.752	0.139790	0.09083	0.0	8.58E-4	ENSG00000253767	ENST00000398604	T	0.52983	0.64	5.41	-0.459	0.12179	Cadherin (4);Cadherin-like (1);	0.285497	0.17833	U	0.160462	T	0.28863	0.0716	L	0.41492	1.28	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.09122	-1.0689	10	0.21540	T	0.41	.	2.5653	0.04782	0.6153:0.1245:0.1402:0.12	.	306;306	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	G	306	ENSP00000381605:S306G	ENSP00000381605:S306G	S	+	1	0	PCDHGA8	140753480	0.000000	0.05858	0.004000	0.12327	0.959000	0.62525	-0.889000	0.04144	0.364000	0.24374	0.533000	0.62120	AGT	PCDHGA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253767		0.368	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1		0.00	24	0	A	NM_032088		140773296	+1			no_errors	ENST00000398604	ensembl	human	known	74_37	missense	25.00	6	2	SNP	0.000	G
PML	5371	genome.wustl.edu	37	15	74336717	74336717	+	Missense_Mutation	SNP	A	A	G	rs367820386		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr15:74336717A>G	ENST00000268058.3	+	9	2113	c.2017A>G	c.(2017-2019)Atc>Gtc	p.I673V	PML_ENST00000565898.1_Missense_Mutation_p.I625V	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	673					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCCGCCCTATCTTGGCCTG	0.607			T	"""RARA, PAX5"""	"""APL, ALL"""																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0								A	VAL/ILE	1,4395	2.1+/-5.4	0,1,2197	54.0	55.0	55.0		2017	-2.0	0.8	15		55	0,8594		0,0,4297	no	missense	PML	NM_033238.2	29	0,1,6494	GG,GA,AA		0.0,0.0227,0.0077	benign	673/883	74336717	1,12989	2198	4297	6495	SO:0001583	missense	0			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.2017A>G	15.37:g.74336717A>G	ENSP00000268058:p.Ile673Val		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.I673V	ENST00000268058.3	37	c.2017	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	A	11.51	1.659321	0.29515	2.27E-4	0.0	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.38560	1.13	5.18	-1.98	0.07480	.	0.415839	0.20463	N	0.091846	T	0.20129	0.0484	N	0.14661	0.345	0.80722	D	1	B;B	0.17465	0.022;0.006	B;B	0.14578	0.011;0.011	T	0.02053	-1.1222	10	0.45353	T	0.12	-21.4069	5.8672	0.18781	0.4365:0.1508:0.4127:0.0	.	673;625	P29590;P29590-11	PML_HUMAN;.	V	673;234;656	ENSP00000268058:I673V	ENSP00000268058:I673V	I	+	1	0	PML	72123770	0.545000	0.26449	0.843000	0.33291	0.872000	0.50106	-0.209000	0.09358	-0.537000	0.06290	-0.371000	0.07208	ATC	PML	-	NULL	ENSG00000140464		0.607	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	-	0.00	20	0	A	NM_002675		74336717	+1	tier1	-	no_errors	ENST00000268058	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.783	G
POTEH	23784	genome.wustl.edu	37	22	16287537	16287537	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr22:16287537C>T	ENST00000343518.6	-	1	400	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	117										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GAAGTGCCCACGTTGCTCTTG	0.602																																																	0													94.0	107.0	102.0					22																	16287537		2057	3900	5957	SO:0001583	missense	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.349G>A	22.37:g.16287537C>T	ENSP00000340610:p.Val117Met		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V117M	ENST00000343518.6	37	c.349	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	.	4.508	0.094252	0.08632	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.30714	1.52	.	.	.	.	.	.	.	.	T	0.17789	0.0427	L	0.55481	1.735	0.09310	N	1	P	0.40534	0.72	B	0.23574	0.047	T	0.06917	-1.0800	7	0.72032	D	0.01	.	.	.	.	.	117	Q6S545	POTEH_HUMAN	M	80;117;117	ENSP00000340610:V117M	ENSP00000340610:V117M	V	-	1	0	POTEH	14667537	0.007000	0.16637	0.005000	0.12908	0.005000	0.04900	0.922000	0.28734	-1.120000	0.02953	-1.163000	0.01768	GTG	POTEH	-	NULL	ENSG00000198062		0.602	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	-	0.00	191	0	C	NM_001136213		16287537	-1	tier1	-	no_errors	ENST00000343518	ensembl	human	known	74_37	missense	14.29	185	31	SNP	0.006	T
PRPF3	9129	genome.wustl.edu	37	1	150307544	150307544	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:150307544G>T	ENST00000324862.6	+	7	1032	c.867G>T	c.(865-867)aaG>aaT	p.K289N	PRPF3_ENST00000414970.2_Missense_Mutation_p.K240N|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_Missense_Mutation_p.K154N	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	289					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GTGCTGTGAAGAGGGAACAAT	0.498																																					Ovarian(168;1070 2670 5178 20729)												0													106.0	88.0	94.0					1																	150307544		2203	4300	6503	SO:0001583	missense	0			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.867G>T	1.37:g.150307544G>T	ENSP00000315379:p.Lys289Asn		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom	p.K289N	ENST00000324862.6	37	c.867	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925240	0.52759	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	T;T	0.79454	-1.27;-1.26	5.78	1.74	0.24563	.	0.042725	0.85682	D	0.000000	T	0.58878	0.2153	M	0.70787	2.145	0.58432	D	0.999996	B;B	0.33345	0.409;0.409	B;B	0.30029	0.11;0.11	T	0.58629	-0.7603	10	0.44086	T	0.13	-16.6989	8.6596	0.34084	0.3674:0.0:0.6326:0.0	.	240;289	E7EVD1;O43395	.;PRPF3_HUMAN	N	289;240;154	ENSP00000315379:K289N;ENSP00000387844:K240N	ENSP00000315379:K289N	K	+	3	2	PRPF3	148574168	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.413000	0.34725	0.429000	0.26202	-0.140000	0.14226	AAG	PRPF3	-	NULL	ENSG00000117360		0.498	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	HGNC	protein_coding	OTTHUMT00000035836.1		0.00	44	0	G	NM_004698		150307544	+1			no_errors	ENST00000324862	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T
PSMB7	5695	genome.wustl.edu	37	9	127174691	127174691	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr9:127174691G>T	ENST00000259457.3	-	4	348	c.335C>A	c.(334-336)tCc>tAc	p.S112Y	PSMB7_ENST00000498485.1_5'UTR|PSMB7_ENST00000536392.1_Missense_Mutation_p.S112Y	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						ACGGCCAGTGGAGAGGGAGTG	0.483																																																	0													155.0	158.0	157.0					9																	127174691		2203	4300	6503	SO:0001583	missense	0			AJ420455	CCDS6855.1	9q34.11-q34.12	2008-02-05			ENSG00000136930	ENSG00000136930		"""Proteasome (prosome, macropain) subunits"""	9544	protein-coding gene	gene with protein product		604030				8811196	Standard	NM_002799		Approved	Z	uc004boj.4	Q99436	OTTHUMG00000021042	ENST00000259457.3:c.335C>A	9.37:g.127174691G>T	ENSP00000259457:p.Ser112Tyr		B4E0P1|Q5TBG6|Q96AG8|Q9BWA7	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB	p.S112Y	ENST00000259457.3	37	c.335	CCDS6855.1	9	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391683	0.62066	.	.	ENSG00000136930	ENST00000259457;ENST00000536392;ENST00000441097	T;T;T	0.23950	1.88;1.88;1.88	4.88	4.88	0.63580	.	0.099394	0.64402	D	0.000001	T	0.28732	0.0712	L	0.46741	1.465	0.58432	D	0.999997	B;B	0.22480	0.019;0.07	B;B	0.29440	0.102;0.016	T	0.05257	-1.0896	10	0.45353	T	0.12	-7.6744	17.5569	0.87894	0.0:0.0:1.0:0.0	.	112;112	B4E0P1;Q99436	.;PSB7_HUMAN	Y	112	ENSP00000259457:S112Y;ENSP00000440247:S112Y;ENSP00000393157:S112Y	ENSP00000259457:S112Y	S	-	2	0	PSMB7	126214512	1.000000	0.71417	0.956000	0.39512	0.995000	0.86356	7.688000	0.84153	2.688000	0.91661	0.655000	0.94253	TCC	PSMB7	-	pfam_Proteasome_sua/b	ENSG00000136930		0.483	PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB7	HGNC	protein_coding	OTTHUMT00000055525.1	-	0.00	45	0	G	NM_002799		127174691	-1	tier1	-	no_errors	ENST00000259457	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
RFX7	64864	genome.wustl.edu	37	15	56435084	56435085	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr15:56435084_56435085insTG	ENST00000423270.1	-	4	291_292	c.292_293insCA	c.(292-294)atgfs	p.M98fs	RFX7_ENST00000422057.1_Start_Codon_Ins|RFX7_ENST00000559447.2_Start_Codon_Ins|RFX7_ENST00000317318.6_Frame_Shift_Ins_p.M98fs	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACTAGATGACATGGCATTCTGA	0.416																																																	0																																										SO:0001589	frameshift_variant	0					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000423270.1:c.291_292dupCA	15.37:g.56435085_56435086dupTG	ENSP00000397644:p.Met98fs		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Frame_Shift_Ins	INS	pfam_DNA-bd_RFX	p.M98fs	ENST00000423270.1	37	c.293_292		15																																																																																			RFX7	-	NULL	ENSG00000181827		0.416	RFX7-203	KNOWN	basic|appris_principal	protein_coding	RFX7	HGNC	protein_coding			0.00	44	0	-	NM_022841		56435085	-1	tier1		no_errors	ENST00000423270	ensembl	human	known	74_37	frame_shift_ins	31.82	30	14	INS	1.000:1.000	TG
S100A12	6283	genome.wustl.edu	37	1	153346937	153346937	+	Silent	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:153346937G>T	ENST00000368737.3	-	2	249	c.132C>A	c.(130-132)acC>acA	p.T44T		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	44	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Hinge domain.				cytokine secretion (GO:0050663)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|mast cell activation (GO:0045576)|monocyte chemotaxis (GO:0002548)|neutrophil chemotaxis (GO:0030593)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	CTACCTTGATGGTGTTTGCAA	0.537																																																	0													153.0	127.0	136.0					1																	153346937		2203	4300	6503	SO:0001819	synonymous_variant	0			BC070294	CCDS1037.1	1q21	2013-01-10	2006-09-11		ENSG00000163221	ENSG00000163221		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10489	protein-coding gene	gene with protein product		603112	"""S100 calcium-binding protein A12 (calgranulin C)"", ""S100 calcium binding protein A12 (calgranulin C)"""			8985590	Standard	NM_005621		Approved	p6, MRP6, CGRP, CAAF1, CAGC, ENRAGE	uc001fbr.1	P80511	OTTHUMG00000013127	ENST00000368737.3:c.132C>A	1.37:g.153346937G>T			P83219|Q5SY66|Q7M4R1	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.T44	ENST00000368737.3	37	c.132	CCDS1037.1	1																																																																																			S100A12	-	pfam_S100_Ca-bd_sub	ENSG00000163221		0.537	S100A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A12	HGNC	protein_coding	OTTHUMT00000036795.1	-	0.00	43	0	G	NM_005621		153346937	-1	tier1	-	no_errors	ENST00000368737	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.000	T
SATB1	6304	genome.wustl.edu	37	3	18436270	18436270	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:18436270C>T	ENST00000338745.6	-	7	2624	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	SATB1_ENST00000454909.2_Missense_Mutation_p.R297Q|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'Flank|SATB1_ENST00000417717.2_Missense_Mutation_p.R297Q	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	297					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AAGAGGTGTCCGGACAGAGGG	0.582																																																	0													108.0	97.0	101.0					3																	18436270		2203	4300	6503	SO:0001583	missense	0				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.890G>A	3.37:g.18436270C>T	ENSP00000341024:p.Arg297Gln		B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R297Q	ENST00000338745.6	37	c.890	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795518	0.70452	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	D;D;D	0.81996	-1.56;-1.56;-1.56	5.75	5.75	0.90469	.	0.199756	0.43747	D	0.000533	T	0.64571	0.2610	N	0.12569	0.235	0.80722	D	1	P;B	0.41159	0.74;0.043	B;B	0.28385	0.089;0.004	T	0.69723	-0.5068	10	0.05833	T	0.94	-19.3412	19.9522	0.97203	0.0:1.0:0.0:0.0	.	297;297	Q01826-2;Q01826	.;SATB1_HUMAN	Q	297	ENSP00000341024:R297Q;ENSP00000399708:R297Q;ENSP00000399518:R297Q	ENSP00000341024:R297Q	R	-	2	0	SATB1	18411274	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.856000	0.69518	2.725000	0.93324	0.655000	0.94253	CGG	SATB1	-	NULL	ENSG00000182568		0.582	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	-	0.00	81	0	C	NM_001131010		18436270	-1	tier1	-	no_errors	ENST00000417717	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	T
SCN1A	6323	genome.wustl.edu	37	2	166872187	166872187	+	Silent	SNP	G	G	T	rs369594817		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr2:166872187G>T	ENST00000303395.4	-	17	3479	c.3480C>A	c.(3478-3480)ggC>ggA	p.G1160G	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.G1149G|SCN1A_ENST00000409050.1_Silent_p.G1132G|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Silent_p.G1160G|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1160				DIGA -> GHRR (in Ref. 2; AAK00217). {ECO:0000305}.	adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTACAGGTGCGCCGATGTCCA	0.393																																																	0													146.0	135.0	139.0					2																	166872187		2203	4299	6502	SO:0001819	synonymous_variant	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3480C>A	2.37:g.166872187G>T			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.G1160	ENST00000303395.4	37	c.3480	CCDS54413.1	2																																																																																			SCN1A	-	pfam_Na_trans_assoc	ENSG00000144285		0.393	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1		0.00	34	0	G	NM_006920		166872187	-1			no_errors	ENST00000303395	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.000	T
SEC16B	89866	genome.wustl.edu	37	1	177902668	177902668	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:177902668C>T	ENST00000308284.6	-	21	2764	c.2675G>A	c.(2674-2676)cGa>cAa	p.R892Q	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	892					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.R893L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGCAGTATTTCGGGGAGAGTT	0.532																																																	1	Substitution - Missense(1)	lung(1)											79.0	81.0	80.0					1																	177902668		1896	4128	6024	SO:0001583	missense	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2675G>A	1.37:g.177902668C>T	ENSP00000308339:p.Arg892Gln		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	NULL	p.R892Q	ENST00000308284.6	37	c.2675	CCDS44281.1	1	.	.	.	.	.	.	.	.	.	.	C	4.695	0.129153	0.08981	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.12774	2.65	5.54	-11.1	0.00147	.	1.754910	0.02450	N	0.085512	T	0.02970	0.0088	N	0.00358	-1.6	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.36625	-0.9740	10	0.16896	T	0.51	8.4379	12.1738	0.54173	0.0:0.2568:0.5762:0.167	.	447;893;892;589	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	Q	892;576;607	ENSP00000308339:R892Q	ENSP00000239472:R607Q	R	-	2	0	AL359075.1	176169291	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.039000	0.01418	-3.094000	0.00246	-1.108000	0.02087	CGA	SEC16B	-	NULL	ENSG00000120341		0.532	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	HGNC	protein_coding	OTTHUMT00000084773.16		0.00	41	0	C	NM_033127		177902668	-1			no_errors	ENST00000308284	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	T
SEC24B	10427	genome.wustl.edu	37	4	110427592	110427592	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr4:110427592A>G	ENST00000265175.5	+	7	1652	c.1597A>G	c.(1597-1599)Att>Gtt	p.I533V	SEC24B_ENST00000399100.2_Missense_Mutation_p.I498V|SEC24B_ENST00000504968.2_Missense_Mutation_p.I563V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	533					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GGAGAGGAATATTTTACCTAT	0.403																																																	0													154.0	148.0	150.0					4																	110427592		1866	4093	5959	SO:0001583	missense	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1597A>G	4.37:g.110427592A>G	ENSP00000265175:p.Ile533Val		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.I533V	ENST00000265175.5	37	c.1597	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	A	11.66	1.705180	0.30232	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.22743	1.94;1.94;1.94	5.67	-2.45	0.06481	.	0.402953	0.27668	N	0.018353	T	0.09423	0.0232	N	0.25485	0.75	0.44579	D	0.99754	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.0;0.002;0.003;0.001	T	0.41431	-0.9509	10	0.06757	T	0.87	-8.057	7.5014	0.27520	0.4982:0.1187:0.3831:0.0	.	447;132;563;498;533	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	V	563;498;533	ENSP00000428564:I563V;ENSP00000382051:I498V;ENSP00000265175:I533V	ENSP00000265175:I533V	I	+	1	0	SEC24B	110647041	0.846000	0.29590	0.755000	0.31263	0.969000	0.65631	0.108000	0.15396	-0.687000	0.05162	-0.376000	0.06991	ATT	SEC24B	-	NULL	ENSG00000138802		0.403	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	-	0.00	23	0	A			110427592	+1	tier1	-	no_errors	ENST00000265175	ensembl	human	known	74_37	missense	25.00	21	7	SNP	0.991	G
SLC4A3	6508	genome.wustl.edu	37	2	220500481	220500481	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr2:220500481C>T	ENST00000358055.3	+	14	2571	c.2059C>T	c.(2059-2061)Cgg>Tgg	p.R687W	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R714W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R687W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R687W|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R714W			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	687					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCTTGTGCGGGATGTGAG	0.622																																																	0													33.0	34.0	33.0					2																	220500481		2203	4299	6502	SO:0001583	missense	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2059C>T	2.37:g.220500481C>T	ENSP00000350756:p.Arg687Trp		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.R714W	ENST00000358055.3	37	c.2140	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.137374	0.94517	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	4.62	4.62	0.57501	Bicarbonate transporter, C-terminal (1);Anion exchange, conserved site (1);	0.141952	0.48286	D	0.000185	D	0.90861	0.7129	M	0.88031	2.925	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.67900	0.925;0.954;0.924	D	0.92969	0.6396	10	0.87932	D	0	.	17.8392	0.88710	0.0:1.0:0.0:0.0	.	391;687;714	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	W	687;687;714;714;687	ENSP00000350756:R687W;ENSP00000362865:R687W;ENSP00000273063:R714W;ENSP00000362867:R714W;ENSP00000314006:R687W	ENSP00000273063:R714W	R	+	1	2	SLC4A3	220208725	1.000000	0.71417	0.912000	0.35992	0.967000	0.64934	7.769000	0.85360	2.264000	0.75181	0.643000	0.83706	CGG	SLC4A3	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000114923		0.622	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1		0.00	34	0	C	NM_005070		220500481	+1			no_errors	ENST00000273063	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T
SLFN12L	100506736	genome.wustl.edu	37	17	33806863	33806863	+	Silent	SNP	G	G	A	rs12451746	byFrequency	TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:33806863G>A	ENST00000260908.7	-	2	483	c.366C>T	c.(364-366)caC>caT	p.H122H	SLFN12L_ENST00000449046.1_Silent_p.H153H|SLFN12L_ENST00000361112.4_Silent_p.H151H|RP11-686D22.9_ENST00000587076.1_RNA	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	122						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)	p.H153H(1)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TCACAAAAATGTGAAAGTAGT	0.398													G|||	1646	0.328674	0.3964	0.3473	5008	,	,		20602	0.2589		0.4125	False		,,,				2504	0.2096																1	Substitution - coding silent(1)	stomach(1)						G		558,826		115,328,249	114.0	101.0	105.0		366	-5.0	0.0	17	dbSNP_120	105	1355,1827		294,767,530	no	coding-synonymous	SLFN12L	NM_001195790.1		409,1095,779	AA,AG,GG		42.5833,40.3179,41.8966		122/589	33806863	1913,2653	692	1591	2283	SO:0001819	synonymous_variant	0			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.366C>T	17.37:g.33806863G>A			F5H6G3	Silent	SNP	pfam_ATPase_AAA-4	p.H153	ENST00000260908.7	37	c.459	CCDS56026.1	17																																																																																			SLFN12L	-	NULL	ENSG00000205045		0.398	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	SLFN12L	HGNC	protein_coding	OTTHUMT00000395748.2		0.00	59	0	G	XM_496206		33806863	-1			no_errors	ENST00000449046	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.000	A
SNTG2	54221	genome.wustl.edu	37	2	1204912	1204912	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr2:1204912T>A	ENST00000308624.5	+	9	844	c.715T>A	c.(715-717)Tta>Ata	p.L239I	SNTG2_ENST00000407292.1_Missense_Mutation_p.L112I|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	239					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AACGGAAAAATTAAGGTGTGT	0.527																																																	0													142.0	146.0	145.0					2																	1204912		1947	4155	6102	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.715T>A	2.37:g.1204912T>A	ENSP00000311837:p.Leu239Ile		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L239I	ENST00000308624.5	37	c.715	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016969	0.35606	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.55413	0.52;0.52	4.03	0.068	0.14368	.	0.352881	0.25264	N	0.031939	T	0.43831	0.1265	M	0.64170	1.965	0.45594	D	0.998532	P;B	0.42296	0.775;0.297	B;B	0.41412	0.356;0.129	T	0.17806	-1.0357	10	0.33141	T	0.24	.	5.0949	0.14727	0.0:0.1766:0.1525:0.6709	.	112;239	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	I	239;112	ENSP00000311837:L239I;ENSP00000385020:L112I	ENSP00000311837:L239I	L	+	1	2	SNTG2	1194912	1.000000	0.71417	0.007000	0.13788	0.746000	0.42486	0.700000	0.25601	-0.189000	0.10482	0.372000	0.22366	TTA	SNTG2	-	NULL	ENSG00000172554		0.527	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0.00	38	0	T	NM_018968		1204912	+1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	A
SPATA32	124783	genome.wustl.edu	37	17	43334552	43334552	+	Silent	SNP	G	G	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:43334552G>A	ENST00000331780.4	-	2	131	c.36C>T	c.(34-36)tgC>tgT	p.C12C	MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_5'UTR|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	12					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											ACCCTTTGCCGCAGCATGGAA	0.632																																																	0													68.0	50.0	56.0					17																	43334552		2203	4299	6502	SO:0001819	synonymous_variant	0			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.36C>T	17.37:g.43334552G>A			Q7Z4U1|Q8N6V6	Silent	SNP	NULL	p.C12	ENST00000331780.4	37	c.36	CCDS32669.1	17																																																																																			SPATA32	-	NULL	ENSG00000184361		0.632	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA32	HGNC	protein_coding	OTTHUMT00000450946.1		0.00	31	0	G	NM_152343		43334552	-1			no_errors	ENST00000331780	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.028	A
SPTA1	6708	genome.wustl.edu	37	1	158636283	158636283	+	Silent	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:158636283G>T	ENST00000368147.4	-	16	2223	c.2043C>A	c.(2041-2043)acC>acA	p.T681T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	681					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q682K(1)|p.T681T(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATGCAACTGGGTCCCTGGGA	0.428																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)											39.0	38.0	39.0					1																	158636283		1933	4134	6067	SO:0001819	synonymous_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2043C>A	1.37:g.158636283G>T			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.T681	ENST00000368147.4	37	c.2043	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0.00	14	0	G	NM_003126		158636283	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	silent	12.50	14	2	SNP	0.144	T
STAU1	6780	genome.wustl.edu	37	20	47768220	47768220	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr20:47768220G>T	ENST00000371856.2	-	5	819	c.409C>A	c.(409-411)Caa>Aaa	p.Q137K	STAU1_ENST00000360426.4_Missense_Mutation_p.Q56K|STAU1_ENST00000371792.1_Missense_Mutation_p.Q56K|STAU1_ENST00000340954.7_Missense_Mutation_p.Q56K|STAU1_ENST00000347458.5_Missense_Mutation_p.Q56K|STAU1_ENST00000371802.1_Missense_Mutation_p.Q56K|STAU1_ENST00000371828.3_Missense_Mutation_p.Q56K	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	137	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCATTAAATTGCTGTCCTCCC	0.463																																																	0													147.0	130.0	135.0					20																	47768220		2203	4300	6503	SO:0001583	missense	0				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.409C>A	20.37:g.47768220G>T	ENSP00000360922:p.Gln137Lys		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.Q137K	ENST00000371856.2	37	c.409	CCDS13414.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.528981	0.96446	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404;ENST00000456866	T;T;T;T;T;T;T;T;T	0.74947	0.15;0.15;-0.89;0.15;0.15;0.15;0.15;0.15;-0.89	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.80270	0.4592	L	0.45137	1.4	0.80722	D	1	B;P	0.46064	0.206;0.872	B;P	0.54664	0.122;0.758	T	0.81136	-0.1070	10	0.72032	D	0.01	-9.9742	19.7096	0.96089	0.0:0.0:1.0:0.0	.	137;56	O95793;Q5JW29	STAU1_HUMAN;.	K	56;56;137;56;56;56;56;56;56;96	ENSP00000360893:Q56K;ENSP00000345425:Q56K;ENSP00000360922:Q137K;ENSP00000353604:Q56K;ENSP00000323443:Q56K;ENSP00000360867:Q56K;ENSP00000360857:Q56K;ENSP00000416779:Q56K;ENSP00000398785:Q96K	ENSP00000345425:Q56K	Q	-	1	0	STAU1	47201627	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.652000	0.90054	0.655000	0.94253	CAA	STAU1	-	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	ENSG00000124214		0.463	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAU1	HGNC	protein_coding	OTTHUMT00000079633.1	-	0.00	44	0	G	NM_017453		47768220	-1	tier1	-	no_errors	ENST00000371856	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
STRAP	11171	genome.wustl.edu	37	12	16043540	16043540	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr12:16043540T>G	ENST00000419869.2	+	4	653	c.340T>G	c.(340-342)Tat>Gat	p.Y114D	STRAP_ENST00000025399.6_Missense_Mutation_p.Y127D|STRAP_ENST00000538352.1_Missense_Mutation_p.Y20D	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	114					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				GGATAGTAATTATTTGTTAAC	0.294																																																	0													70.0	73.0	72.0					12																	16043540		2203	4299	6502	SO:0001583	missense	0			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.340T>G	12.37:g.16043540T>G	ENSP00000392270:p.Tyr114Asp		B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y127D	ENST00000419869.2	37	c.379	CCDS8676.1	12	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801579	0.31869	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	T;T;T	0.62788	0.0;0.0;0.0	4.81	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.239195	0.45361	D	0.000376	T	0.63248	0.2495	M	0.82517	2.595	0.39544	D	0.968869	B;B	0.32573	0.253;0.376	B;B	0.33960	0.173;0.173	T	0.66048	-0.6020	10	0.37606	T	0.19	-2.3232	9.8821	0.41240	0.1522:0.0:0.0:0.8478	.	127;114	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	D	20;127;114	ENSP00000439761:Y20D;ENSP00000025399:Y127D;ENSP00000392270:Y114D	ENSP00000025399:Y127D	Y	+	1	0	STRAP	15934807	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.122000	0.57910	2.028000	0.59812	0.477000	0.44152	TAT	STRAP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000023734		0.294	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRAP	HGNC	protein_coding	OTTHUMT00000401114.1	-	0.00	52	0	T	NM_007178		16043540	+1	tier1	-	no_errors	ENST00000025399	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	G
STXBP5	134957	genome.wustl.edu	37	6	147632620	147632620	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr6:147632620C>A	ENST00000321680.6	+	11	1102	c.1102C>A	c.(1102-1104)Ctt>Att	p.L368I	STXBP5_ENST00000367481.3_Missense_Mutation_p.L368I|STXBP5_ENST00000179882.6_Missense_Mutation_p.L39I|STXBP5_ENST00000367480.3_Missense_Mutation_p.L368I	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	368					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGTGGTTGTTCTTCTAGAAAA	0.323																																																	0													141.0	138.0	139.0					6																	147632620		2203	4298	6501	SO:0001583	missense	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1102C>A	6.37:g.147632620C>A	ENSP00000321826:p.Leu368Ile		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.L368I	ENST00000321680.6	37	c.1102	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695544	0.88830	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.29917	2.74;2.74;1.59;1.55	5.64	5.64	0.86602	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.88704	2.975	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.87578	0.915;0.998;0.982	T	0.66999	-0.5781	10	0.87932	D	0	.	19.6979	0.96034	0.0:1.0:0.0:0.0	.	368;368;39	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	I	368;368;368;39	ENSP00000356451:L368I;ENSP00000321826:L368I;ENSP00000356450:L368I;ENSP00000179882:L39I	ENSP00000179882:L39I	L	+	1	0	STXBP5	147674313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.005000	0.70716	2.660000	0.90430	0.561000	0.74099	CTT	STXBP5	-	pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant	ENSG00000164506		0.323	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	-	0.00	37	0	C			147632620	+1	tier1	-	no_errors	ENST00000321680	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	A
TAF4B	6875	genome.wustl.edu	37	18	23873435	23873435	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr18:23873435C>T	ENST00000269142.5	+	9	2770	c.1772C>T	c.(1771-1773)tCa>tTa	p.S591L	TAF4B_ENST00000578121.1_Missense_Mutation_p.S596L|TAF4B_ENST00000400466.2_Missense_Mutation_p.S591L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	591					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AAAATTCTGTCACTTCAAGCA	0.289																																																	0													41.0	39.0	39.0					18																	23873435		1790	4047	5837	SO:0001583	missense	0			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1772C>T	18.37:g.23873435C>T	ENSP00000269142:p.Ser591Leu		Q29YA4|Q29YA5	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.S591L	ENST00000269142.5	37	c.1772	CCDS42421.1	18	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553718	0.45487	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T	0.27557	1.66;1.66	5.27	5.27	0.74061	.	0.712825	0.13589	N	0.376740	T	0.46814	0.1412	M	0.66939	2.045	0.45607	D	0.998547	P;D	0.58268	0.948;0.982	P;P	0.50314	0.576;0.637	T	0.46830	-0.9163	10	0.52906	T	0.07	-3.2407	18.4848	0.90824	0.0:1.0:0.0:0.0	.	591;596	Q92750;A4PBF7	TAF4B_HUMAN;.	L	594;591;591	ENSP00000269142:S591L;ENSP00000383314:S591L	ENSP00000269142:S591L	S	+	2	0	TAF4B	22127433	0.994000	0.37717	0.995000	0.50966	0.900000	0.52787	3.323000	0.52014	2.472000	0.83506	0.467000	0.42956	TCA	TAF4B	-	NULL	ENSG00000141384		0.289	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3		0.00	27	0	C	NM_005640		23873435	+1			no_errors	ENST00000269142	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T
TEX38	374973	genome.wustl.edu	37	1	47138746	47138746	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:47138746C>G	ENST00000334122.4	+	2	346	c.239C>G	c.(238-240)gCc>gGc	p.A80G	ATPAF1_ENST00000525633.1_Intron|EFCAB14-AS1_ENST00000418985.1_RNA|TEX38_ENST00000569393.1_Missense_Mutation_p.A134G|EFCAB14_ENST00000544071.1_Intron|TEX38_ENST00000415500.1_Missense_Mutation_p.A4G|EFCAB14-AS1_ENST00000442839.1_RNA|TEX38_ENST00000564373.1_Missense_Mutation_p.A26G	NM_001145474.2	NP_001138946.1	Q6PEX7	TEX38_HUMAN	testis expressed 38	80						integral component of membrane (GO:0016021)											ATGAATGCAGCCATCAACACG	0.562																																																	0													94.0	89.0	91.0					1																	47138746		692	1591	2283	SO:0001583	missense	0				CCDS57999.1, CCDS72780.1, CCDS72781.1	1p33	2012-10-12	2012-10-12	2012-10-12	ENSG00000186118	ENSG00000186118			29589	protein-coding gene	gene with protein product	"""testis highly expressed protein 4"""		"""chromosome 1 open reading frame 223"", ""ATPAF1 antisense RNA 1 (non-protein coding)"", ""ATPAF1 antisense RNA 1"""	C1orf223, ATPAF1-AS1		12477932	Standard	XM_005270845		Approved	LOC374973, THEG4	uc001cqj.3	Q6PEX7	OTTHUMG00000007991	ENST00000334122.4:c.239C>G	1.37:g.47138746C>G	ENSP00000455854:p.Ala80Gly		A1A4F8	Missense_Mutation	SNP	NULL	p.A134G	ENST00000334122.4	37	c.401	CCDS57999.1	1																																																																																			TEX38	-	NULL	ENSG00000186118		0.562	TEX38-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TEX38	HGNC	protein_coding	OTTHUMT00000021929.2	-	0.00	40	0	C	NM_001145474		47138746	+1	tier1	-	no_errors	ENST00000569393	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.956	G
TFCP2	7024	genome.wustl.edu	37	12	51489798	51489798	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr12:51489798G>T	ENST00000257915.5	-	14	1903	c.1445C>A	c.(1444-1446)gCa>gAa	p.A482E	TFCP2_ENST00000548115.1_Missense_Mutation_p.A431E|TFCP2_ENST00000307660.4_Missense_Mutation_p.A431E|TFCP2_ENST00000549867.1_Missense_Mutation_p.A404E	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	482					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AATAAAACATGCTTCTTCCTG	0.323																																																	0													143.0	135.0	138.0					12																	51489798		2202	4298	6500	SO:0001583	missense	0			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1445C>A	12.37:g.51489798G>T	ENSP00000257915:p.Ala482Glu		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.A482E	ENST00000257915.5	37	c.1445	CCDS8808.1	12	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622287	0.66787	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115	T;T;T;T	0.42513	2.3;0.97;2.31;0.97	5.75	5.75	0.90469	.	0.265120	0.38326	N	0.001727	T	0.41858	0.1177	L	0.43152	1.355	0.37103	D	0.899987	B;B;B;B	0.22414	0.069;0.042;0.003;0.012	B;B;B;B	0.23419	0.034;0.046;0.007;0.025	T	0.42241	-0.9463	10	0.87932	D	0	-5.1721	19.0907	0.93225	0.0:0.0:1.0:0.0	.	431;404;482;482	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	E	482;431;404;431	ENSP00000257915:A482E;ENSP00000304411:A431E;ENSP00000449742:A404E;ENSP00000447991:A431E	ENSP00000257915:A482E	A	-	2	0	TFCP2	49776065	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.496000	0.60360	2.890000	0.99128	0.585000	0.79938	GCA	TFCP2	-	NULL	ENSG00000135457		0.323	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1		0.00	22	0	G	NM_005653		51489798	-1			no_errors	ENST00000257915	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
TGFBR2	7048	genome.wustl.edu	37	3	30691947	30691947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:30691947C>G	ENST00000295754.5	+	3	831	c.449C>G	c.(448-450)tCa>tGa	p.S150*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S175*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	150					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCATCTTCTCAGAAGGTGAG	0.433																																																	0													109.0	100.0	103.0					3																	30691947		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.449C>G	3.37:g.30691947C>G	ENSP00000295754:p.Ser150*		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.S175*	ENST00000295754.5	37	c.524	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	C	40	8.506241	0.98841	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000383765;ENST00000439925	.	.	.	5.97	5.09	0.68999	.	0.571104	0.19372	N	0.115863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	10.1189	0.42607	0.1376:0.7943:0.0:0.0681	.	.	.	.	X	150;175;16;16	.	ENSP00000295754:S150X	S	+	2	0	TGFBR2	30666951	0.931000	0.31567	0.854000	0.33618	0.992000	0.81027	3.594000	0.54008	1.511000	0.48818	0.655000	0.94253	TCA	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto	ENSG00000163513		0.433	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0.00	40	0	C			30691947	+1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	nonsense	18.52	22	5	SNP	0.931	G
THSD7A	221981	genome.wustl.edu	37	7	11486945	11486945	+	Silent	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr7:11486945C>T	ENST00000423059.4	-	12	2963	c.2712G>A	c.(2710-2712)caG>caA	p.Q904Q	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	904					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GACAGTCATCCTGGCAGGGGA	0.522										HNSCC(18;0.044)																																							0													61.0	58.0	59.0					7																	11486945		1915	4137	6052	SO:0001819	synonymous_variant	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2712G>A	7.37:g.11486945C>T				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.Q904	ENST00000423059.4	37	c.2712	CCDS47543.1	7																																																																																			THSD7A	-	superfamily_Thrombospondin_1_rpt	ENSG00000005108		0.522	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	-	0.00	39	0	C	XM_928187.2		11486945	-1	tier1	-	no_errors	ENST00000423059	ensembl	human	known	74_37	silent	28.57	35	14	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577527	7577527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:7577527delG	ENST00000269305.4	-	7	943	c.754delC	c.(754-756)ctcfs	p.L252fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.L252fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.L252fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L252fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.L252fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L252fs	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	252	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in a sporadic cancer; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|L -> V (in a sporadic cancer; 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.L252F(9)|p.0?(8)|p.L252fs*93(5)|p.L252del(5)|p.L252_I254delLTI(4)|p.I251_T253delILT(4)|p.L252delL(3)|p.P250_L252delPIL(2)|p.L252_T253delLT(1)|p.?(1)|p.P250_T253delPILT(1)|p.L252fs*92(1)|p.L252fs*12(1)|p.L252fs*13(1)|p.I251_L252insX(1)|p.R249_T256delRPILTIIT(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)	ATGATGGTGAGGATGGGCCTC	0.587		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"""	48	Deletion - In frame(21)|Substitution - Missense(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(2)|Insertion - In frame(1)|Unknown(1)	lung(8)|large_intestine(6)|upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|stomach(4)|bone(4)|central_nervous_system(3)|liver(3)|endometrium(2)|breast(2)|biliary_tract(1)|peritoneum(1)|urinary_tract(1)|oesophagus(1)|skin(1)|ovary(1)											153.0	110.0	125.0					17																	7577527		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.754delC	17.37:g.7577527delG	ENSP00000269305:p.Leu252fs		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	Frame_Shift_Del	DEL	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.L252fs	ENST00000269305.4	37	c.754	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	56	0	G	NM_000546		7577527	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	39.62	32	21	DEL	1.000	-
TP53	7157	genome.wustl.edu	37	17	7577528	7577528	+	Silent	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:7577528G>T	ENST00000269305.4	-	7	942	c.753C>A	c.(751-753)atC>atA	p.I251I	TP53_ENST00000359597.4_Silent_p.I251I|TP53_ENST00000420246.2_Silent_p.I251I|TP53_ENST00000445888.2_Silent_p.I251I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Silent_p.I251I|TP53_ENST00000413465.2_Silent_p.I251I	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	251	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|I -> T (in sporadic cancers; somatic mutation).|I -> 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.0?(8)|p.I251_T253delILT(4)|p.I251I(3)|p.L252delL(3)|p.I251del(2)|p.P250_L252delPIL(2)|p.P250_T253delPILT(1)|p.L252fs*92(1)|p.L252fs*93(1)|p.L252fs*12(1)|p.L252fs*13(1)|p.I251_L252insX(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)|p.I251fs*13(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)	TGATGGTGAGGATGGGCCTCC	0.587		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"""	31	Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Substitution - coding silent(3)|Deletion - Frameshift(2)|Insertion - In frame(1)	liver(6)|upper_aerodigestive_tract(5)|large_intestine(4)|stomach(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|urinary_tract(1)|skin(1)	GRCh37	CM951231	TP53	M							153.0	111.0	125.0					17																	7577528		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.753C>A	17.37:g.7577528G>T			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	Silent	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.I251	ENST00000269305.4	37	c.753	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	56	0	G	NM_000546		7577528	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	silent	42.31	30	22	SNP	1.000	T
CFAP46	54777	genome.wustl.edu	37	10	134755135	134755135	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr10:134755135C>A	ENST00000368586.5	-	3	366	c.266G>T	c.(265-267)tGc>tTc	p.C89F	TTC40_ENST00000368585.3_Missense_Mutation_p.C89F|RP13-137A17.4_ENST00000443633.1_lincRNA|TTC40_ENST00000368582.2_Missense_Mutation_p.C89F	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTGGGCCCTGCACAGGTGCGC	0.582																																																	0													74.0	70.0	71.0					10																	134755135		2203	4300	6503	SO:0001583	missense	0																														ENST00000368586.5:c.266G>T	10.37:g.134755135C>A	ENSP00000357575:p.Cys89Phe			Missense_Mutation	SNP	NULL	p.C89F	ENST00000368586.5	37	c.266	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968266	0.74131	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	D;D;D	0.82433	-1.61;-1.61;-1.61	4.07	4.07	0.47477	.	0.303719	0.26069	N	0.026531	D	0.90693	0.7080	M	0.77103	2.36	0.44780	D	0.997781	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.982	D	0.92206	0.5772	10	0.87932	D	0	.	15.88	0.79197	0.0:1.0:0.0:0.0	.	89;89	Q5SR76-2;Q5SR76-1	.;.	F	89	ENSP00000357575:C89F;ENSP00000357571:C89F;ENSP00000357574:C89F	ENSP00000357571:C89F	C	-	2	0	C10orf93	134605125	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.432000	0.44784	2.201000	0.70794	0.555000	0.69702	TGC	TTC40	-	NULL	ENSG00000171811		0.582	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	-	0.00	37	0	C			134755135	-1	tier1	-	no_errors	ENST00000368582	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179571596	179571596	+	Silent	SNP	G	G	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr2:179571596G>A	ENST00000591111.1	-	99	28400	c.28176C>T	c.(28174-28176)gtC>gtT	p.V9392V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.V8465V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.V9709V|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13490	Ig-like 77.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V8465V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTTTCTACGACTCTGATAC	0.353																																																	1	Substitution - coding silent(1)	lung(1)											58.0	53.0	54.0					2																	179571596		1854	4091	5945	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28176C>T	2.37:g.179571596G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V8465	ENST00000591111.1	37	c.25395		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.353	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	32	0	G	NM_133378		179571596	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.000	A
UBE2T	29089	genome.wustl.edu	37	1	202302447	202302447	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:202302447G>T	ENST00000367274.4	-	5	451	c.302C>A	c.(301-303)tCc>tAc	p.S101Y		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	101					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|skin(1)	5						GATGTTGAGGGATGGTCTCCA	0.408																																																	0													227.0	223.0	224.0					1																	202302447		2203	4300	6503	SO:0001583	missense	0			AF161499	CCDS1425.1	1q32.1	2008-02-05			ENSG00000077152	ENSG00000077152		"""Ubiquitin-conjugating enzymes E2"""	25009	protein-coding gene	gene with protein product		610538				11042152	Standard	NM_014176		Approved	HSPC150	uc001gxx.4	Q9NPD8	OTTHUMG00000041392	ENST00000367274.4:c.302C>A	1.37:g.202302447G>T	ENSP00000356243:p.Ser101Tyr		Q2TU36	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.S101Y	ENST00000367274.4	37	c.302	CCDS1425.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024348	0.93462	.	.	ENSG00000077152	ENST00000367274	T	0.38560	1.13	5.82	5.82	0.92795	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.105878	0.64402	D	0.000002	T	0.74092	0.3671	M	0.93241	3.395	0.80722	D	1	D	0.69078	0.997	D	0.69654	0.965	T	0.80747	-0.1244	10	0.87932	D	0	-9.7933	18.8624	0.92278	0.0:0.0:1.0:0.0	.	101	Q9NPD8	UBE2T_HUMAN	Y	101	ENSP00000356243:S101Y	ENSP00000356243:S101Y	S	-	2	0	UBE2T	200569070	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.304000	0.96190	2.755000	0.94549	0.591000	0.81541	TCC	UBE2T	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000077152		0.408	UBE2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2T	HGNC	protein_coding	OTTHUMT00000099163.1	-	0.00	57	0	G	NM_014176		202302447	-1	tier1	-	no_errors	ENST00000367274	ensembl	human	known	74_37	missense	20.93	34	9	SNP	1.000	T
UNC13D	201294	genome.wustl.edu	37	17	73827330	73827330	+	Silent	SNP	G	G	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:73827330G>A	ENST00000207549.4	-	26	2926	c.2547C>T	c.(2545-2547)gcC>gcT	p.A849A	UNC13D_ENST00000412096.2_Silent_p.A849A	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	849	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTACCTGCAGGGCAATCTTCA	0.612									Familial Hemophagocytic Lymphohistiocytosis																																								0													83.0	81.0	82.0					17																	73827330		2202	4300	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2547C>T	17.37:g.73827330G>A			B4DWG9|Q9H7K5	Silent	SNP	pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A849	ENST00000207549.4	37	c.2547	CCDS11730.1	17																																																																																			UNC13D	-	pfam_Munc13_subgr_dom-2	ENSG00000092929		0.612	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	-	0.00	34	0	G	XM_113950		73827330	-1	tier1	-	no_errors	ENST00000412096	ensembl	human	known	74_37	silent	41.30	27	19	SNP	0.985	A
USP27X	389856	genome.wustl.edu	37	X	49645918	49645918	+	Silent	SNP	G	G	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chrX:49645918G>A	ENST00000508866.2	+	1	1449	c.1008G>A	c.(1006-1008)acG>acA	p.T336T	USP27X-AS1_ENST00000437322.2_lincRNA	NM_001145073.1	NP_001138545.1	A6NNY8	UBP27_HUMAN	ubiquitin specific peptidase 27, X-linked	336	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(7)	7						TGGATATGACGCCGTTTATGG	0.433																																																	0													115.0	85.0	94.0					X																	49645918		692	1591	2283	SO:0001819	synonymous_variant	0			AW851065	CCDS65260.1	Xp11.23	2007-10-05	2005-08-08			ENSG00000273820		"""Ubiquitin-specific peptidases"""	13486	protein-coding gene	gene with protein product			"""ubiquitin specific protease 27, X chromosome"", ""ubiquitin specific protease 27, X-linked"""			12838346	Standard	NM_001145073		Approved	USP27	uc004dop.3	A6NNY8		ENST00000508866.2:c.1008G>A	X.37:g.49645918G>A				Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.T336	ENST00000508866.2	37	c.1008		X																																																																																			USP27X	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000242013		0.433	USP27X-001	KNOWN	basic|appris_principal	protein_coding	USP27X	HGNC	protein_coding	OTTHUMT00000060837.3	-	0.00	30	0	G	XM_372213		49645918	+1	tier1	-	no_errors	ENST00000508866	ensembl	human	known	74_37	silent	50.00	9	9	SNP	1.000	A
USP48	84196	genome.wustl.edu	37	1	22033385	22033386	+	Intron	INS	-	-	A	rs112985732|rs532575338		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:22033385_22033386insA	ENST00000308271.9	-	16	2612				USP48_ENST00000374732.3_Intron|USP48_ENST00000529637.1_Frame_Shift_Ins_p.S659fs|USP48_ENST00000400301.1_Intron	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48						ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AATATATTTGGAAAAAAAAAAA	0.317																																																	0																																										SO:0001627	intron_variant	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1964-24->T	1.37:g.22033396_22033396dupA			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Frame_Shift_Ins	INS	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.S659fs	ENST00000308271.9	37	c.1976_1975	CCDS30623.1	1																																																																																			USP48	-	NULL	ENSG00000090686		0.317	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1		0.00	14	0	-	NM_032236		22033386	-1	tier1		no_errors	ENST00000529637	ensembl	human	novel	74_37	frame_shift_ins	13.89	31	5	INS	0.000:0.000	A
VPS53	55275	genome.wustl.edu	37	17	560766	560766	+	Intron	SNP	G	G	C			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:560766G>C	ENST00000571805.1	-	6	509				VPS53_ENST00000437048.2_Intron|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_Intron|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)						protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CGCTTCAGATGCTTCTTGGCA	0.507																																																	0																																										SO:0001627	intron_variant	0				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.373-1573C>G	17.37:g.560766G>C			A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	RNA	SNP	-	NULL	ENST00000571805.1	37	NULL		17																																																																																			VPS53	-	-	ENSG00000141252		0.507	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2	-	0.00	30	0	G	NM_018289		560766	-1	tier1	-	no_errors	ENST00000575207	ensembl	human	known	74_37	rna	64.71	6	11	SNP	1.000	C
WDR24	84219	genome.wustl.edu	37	16	740386	740386	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr16:740386C>T	ENST00000248142.6	-	1	58	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	LA16c-313D11.12_ENST00000566927.1_RNA|WDR24_ENST00000293883.4_5'UTR			Q96S15	WDR24_HUMAN	WD repeat domain 24	20										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)				CCGGAACCGCCGCGCCGGAAG	0.647																																																	0																																										SO:0001583	missense	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.59G>A	16.37:g.740386C>T	ENSP00000248142:p.Arg20Gln		A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R20Q	ENST00000248142.6	37	c.59		16	.	.	.	.	.	.	.	.	.	.	c	11.73	1.726621	0.30593	.	.	ENSG00000127580	ENST00000248142	T	0.79352	-1.26	2.54	-0.846	0.10734	.	.	.	.	.	T	0.71626	0.3362	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.64063	-0.6495	6	0.87932	D	0	.	4.9476	0.13997	0.4417:0.3594:0.1989:0.0	.	.	.	.	Q	20	ENSP00000248142:R20Q	ENSP00000248142:R20Q	R	-	2	0	WDR24	680387	0.000000	0.05858	0.007000	0.13788	0.010000	0.07245	-0.218000	0.09240	-0.153000	0.11137	-1.050000	0.02344	CGG	WDR24	-	NULL	ENSG00000127580		0.647	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		-	0.00	68	0	C	NM_032259		740386	-1	tier1	-	no_errors	ENST00000248142	ensembl	human	known	74_37	missense	25.00	42	14	SNP	0.026	T
ZBED1	9189	genome.wustl.edu	37	X	2408163	2408165	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chrX:2408163_2408165delTGT	ENST00000381223.4	-	2	799_801	c.596_598delACA	c.(595-600)gacatg>gtg	p.199_200DM>V	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_In_Frame_Del_p.199_200DM>V|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_In_Frame_Del_p.199_200DM>V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	199					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTCCACATGTCGGTGGAGAT	0.645																																																	0																																										SO:0001651	inframe_deletion	0			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.596_598delACA	X.37:g.2408163_2408165delTGT	ENSP00000370621:p.Asp199_Met200delinsVal		Q96BY4	In_Frame_Del	DEL	pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.DM199in_frame_delV	ENST00000381223.4	37	c.598_596	CCDS14118.1	X																																																																																			ZBED1	-	superfamily_RNaseH-like_dom	ENSG00000214717		0.645	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3		0.00	63	0	TGT	NM_004729		2408165	-1	tier1		no_errors	ENST00000381218	ensembl	human	known	74_37	in_frame_del	25.40	47	16	DEL	0.584:0.703:0.959	-
ZBED1	9189	genome.wustl.edu	37	X	2408167	2408169	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	GGT	GGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chrX:2408167_2408169delGGT	ENST00000381223.4	-	2	795_797	c.592_594delACC	c.(592-594)accdel	p.T198del	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_In_Frame_Del_p.T198del|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_In_Frame_Del_p.T198del	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	198					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCACATGTCGGTGGAGATGCCA	0.65																																																	0																																										SO:0001651	inframe_deletion	0			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.592_594delACC	X.37:g.2408167_2408169delGGT	ENSP00000370621:p.Thr198del		Q96BY4	In_Frame_Del	DEL	pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.T198in_frame_del	ENST00000381223.4	37	c.594_592	CCDS14118.1	X																																																																																			ZBED1	-	superfamily_RNaseH-like_dom	ENSG00000214717		0.650	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3		0.00	63	0	GGT	NM_004729		2408169	-1	tier1		no_errors	ENST00000381218	ensembl	human	known	74_37	in_frame_del	23.53	52	16	DEL	0.041:0.747:0.750	-
ZFHX4	79776	genome.wustl.edu	37	8	77766126	77766126	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr8:77766126G>T	ENST00000521891.2	+	10	7417	c.6969G>T	c.(6967-6969)agG>agT	p.R2323S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2278S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2297S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2278S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTTCCCCAGGATCTTTGACT	0.398										HNSCC(33;0.089)																																							0													113.0	109.0	110.0					8																	77766126		1972	4165	6137	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6969G>T	8.37:g.77766126G>T	ENSP00000430497:p.Arg2323Ser		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.R2323S	ENST00000521891.2	37	c.6969	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363127	0.41902	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.34	1.39	0.22231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.49305	U	0.000152	T	0.48241	0.1489	M	0.77103	2.36	0.48632	D	0.999689	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.994	T	0.40117	-0.9580	10	0.49607	T	0.09	.	5.0358	0.14434	0.2079:0.3548:0.4373:0.0	.	2278;2278;2323	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2323;2307;2278;2278;2297	ENSP00000430497:R2323S;ENSP00000399605:R2278S;ENSP00000050961:R2278S;ENSP00000430848:R2297S	ENSP00000050961:R2278S	R	+	3	2	ZFHX4	77928681	0.953000	0.32496	1.000000	0.80357	0.999000	0.98932	0.080000	0.14802	0.524000	0.28502	0.650000	0.86243	AGG	ZFHX4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000091656		0.398	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2		0.00	24	0	G	NM_024721		77766126	+1			no_errors	ENST00000521891	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.997	T
ZNF704	619279	genome.wustl.edu	37	8	81550824	81550825	+	3'UTR	INS	-	-	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr8:81550824_81550825insA	ENST00000327835.3	-	0	4246_4247					NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704								metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ATGCTACGTTTAAAAAAAAAAA	0.371																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.*2777->T	8.37:g.81550835_81550835dupA			B2RNE6|B9EGW6	RNA	INS	-	NULL	ENST00000327835.3	37	NULL	CCDS34913.1	8																																																																																			ZNF704	-	-	ENSG00000164684		0.371	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF704	HGNC	protein_coding	OTTHUMT00000379964.2		0.00	15	0	-	NM_001033723		81550825	-1	tier1		no_errors	ENST00000517379	ensembl	human	putative	74_37	rna	8.00	23	2	INS	0.000:0.000	A
ZNF704	619279	genome.wustl.edu	37	8	81550825	81550825	+	3'UTR	DEL	A	A	-			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr8:81550825delA	ENST00000327835.3	-	0	4246					NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704								metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGCTACGTTTAAAAAAAAAAA	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.*2776T>-	8.37:g.81550825delA			B2RNE6|B9EGW6	RNA	DEL	-	NULL	ENST00000327835.3	37	NULL	CCDS34913.1	8																																																																																			ZNF704	-	-	ENSG00000164684		0.373	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF704	HGNC	protein_coding	OTTHUMT00000379964.2		0.00	15	0	A	NM_001033723		81550825	-1	tier1		no_errors	ENST00000517379	ensembl	human	putative	74_37	rna	24.00	19	6	DEL	0.000	-
ZNF91	7644	genome.wustl.edu	37	19	23525017	23525017	+	Intron	SNP	C	C	A			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr19:23525017C>A	ENST00000599743.1	-	4	356				ZNF91_ENST00000596528.1_Intron			Q05481	ZNF91_HUMAN	zinc finger protein 91						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTCCAGGGCTCTTTTATTTGC	0.428																																																	0																																										SO:0001627	intron_variant	0			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000599743.1:c.254-3161G>T	19.37:g.23525017C>A			A8K5E1|B7Z6G6	RNA	SNP	-	NULL	ENST00000599743.1	37	NULL		19																																																																																			ZNF91	-	-	ENSG00000167232		0.428	ZNF91-006	PUTATIVE	basic	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465888.1	-	0.00	36	0	C	NM_003430		23525017	-1	tier1	-	no_errors	ENST00000599281	ensembl	human	known	74_37	rna	27.27	16	6	SNP	0.064	A
