#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
ABCC5	10057	genome.wustl.edu	37	3	183669325	183669325	+	Missense_Mutation	SNP	C	C	T	rs369345548		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr3:183669325C>T	ENST00000334444.6	-	20	3088	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	ABCC5_ENST00000265586.6_Missense_Mutation_p.E950K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	950	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CGGAAAAGCTCGTCATGCAGC	0.557																																																	0								C	LYS/GLU	0,4058		0,0,2029	68.0	74.0	72.0		2848	6.0	1.0	3		72	1,8401		0,1,4200	no	missense	ABCC5	NM_005688.2	56	0,1,6229	TT,TC,CC		0.0119,0.0,0.0080	benign	950/1438	183669325	1,12459	2029	4201	6230	SO:0001583	missense	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2848G>A	3.37:g.183669325C>T	ENSP00000333926:p.Glu950Lys		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.E950K	ENST00000334444.6	37	c.2848	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048466	0.36181	0.0	1.19E-4	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.88431	-2.38;-2.38	6.02	6.02	0.97574	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.100151	0.64402	D	0.000001	T	0.74176	0.3682	N	0.01751	-0.74	0.50632	D	0.999881	B;B	0.23891	0.093;0.061	B;B	0.20955	0.032;0.014	T	0.72743	-0.4201	10	0.06494	T	0.89	-27.0095	20.5269	0.99230	0.0:1.0:0.0:0.0	.	950;950	Q86UX3;O15440	.;MRP5_HUMAN	K	950	ENSP00000333926:E950K;ENSP00000265586:E950K	ENSP00000265586:E950K	E	-	1	0	ABCC5	185152019	0.992000	0.36948	0.977000	0.42913	0.975000	0.68041	2.925000	0.48884	2.859000	0.98148	0.591000	0.81541	GAG	ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000114770		0.557	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	-	0.00	40	0	C	NM_005688		183669325	-1	tier1	-	no_errors	ENST00000334444	ensembl	human	known	74_37	missense	18.00	41	9	SNP	0.996	T
AHNAK	79026	genome.wustl.edu	37	11	62300523	62300523	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:62300523G>A	ENST00000378024.4	-	5	1640	c.1366C>T	c.(1366-1368)Cct>Tct	p.P456S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	456					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACCTGTAGGCAGTGTCACA	0.512																																																	0													118.0	122.0	121.0					11																	62300523		2202	4299	6501	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1366C>T	11.37:g.62300523G>A	ENSP00000367263:p.Pro456Ser		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P456S	ENST00000378024.4	37	c.1366	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	9.679	1.148793	0.21288	.	.	ENSG00000124942	ENST00000378024	T	0.02944	4.1	5.36	4.42	0.53409	.	0.000000	0.39475	N	0.001346	T	0.18467	0.0443	M	0.89353	3.025	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.07385	-1.0775	10	0.51188	T	0.08	-1.2872	14.8443	0.70249	0.0:0.1451:0.8549:0.0	.	456	Q09666	AHNK_HUMAN	S	456	ENSP00000367263:P456S	ENSP00000367263:P456S	P	-	1	0	AHNAK	62057099	0.001000	0.12720	0.193000	0.23327	0.329000	0.28539	0.708000	0.25719	1.211000	0.43351	0.555000	0.69702	CCT	AHNAK	-	NULL	ENSG00000124942		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0.00	25	0	G	NM_024060		62300523	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	72.22	10	26	SNP	0.023	A
ANKRD36C	400986	genome.wustl.edu	37	2	96643871	96643871	+	Splice_Site	SNP	T	T	C	rs201215924		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:96643871T>C	ENST00000456556.1	-	6	882	c.798A>G	c.(796-798)ccA>ccG	p.P266P				Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	266							ion channel inhibitor activity (GO:0008200)	p.P266P(2)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAATCTTACCTGGATTGCTAT	0.239																																																	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)																																								SO:0001630	splice_region_variant	0			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.799+1A>G	2.37:g.96643871T>C			C9JZ08|Q15694|Q53S06|Q658V2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P266	ENST00000456556.1	37	c.798		2																																																																																			ANKRD36C	-	NULL	ENSG00000174501		0.239	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2		0.00	51	0	T	NM_001010914	Silent	96643871	-1			no_errors	ENST00000456556	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.222	C
AOC2	314	genome.wustl.edu	37	17	40997982	40997982	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr17:40997982G>T	ENST00000253799.3	+	1	1366	c.1339G>T	c.(1339-1341)Ggt>Tgt	p.G447C	AOC2_ENST00000452774.2_Missense_Mutation_p.G447C	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	447					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCATTTCTATGGTGGTTTGGC	0.517																																																	0													123.0	113.0	116.0					17																	40997982		2203	4300	6503	SO:0001583	missense	0			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1339G>T	17.37:g.40997982G>T	ENSP00000253799:p.Gly447Cys		A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.G447C	ENST00000253799.3	37	c.1339	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791513	0.50102	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.04015	3.73;3.73	5.68	5.68	0.88126	Copper amine oxidase, C-terminal (3);	0.120444	0.56097	D	0.000027	T	0.30479	0.0766	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.10543	-1.0625	10	0.62326	D	0.03	-24.9105	19.7779	0.96402	0.0:0.0:1.0:0.0	.	447;447	O75106;O75106-2	AOC2_HUMAN;.	C	447	ENSP00000253799:G447C;ENSP00000406134:G447C	ENSP00000253799:G447C	G	+	1	0	AOC2	38251508	1.000000	0.71417	0.926000	0.36857	0.054000	0.15201	6.580000	0.74040	2.671000	0.90904	0.591000	0.81541	GGT	AOC2	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase	ENSG00000131480		0.517	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	-	0.00	50	0	G	NM_009590, NM_001158		40997982	+1	tier1	-	no_errors	ENST00000253799	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
AP1G1	164	genome.wustl.edu	37	16	71773198	71773198	+	Silent	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr16:71773198G>T	ENST00000299980.4	-	20	2487	c.2046C>A	c.(2044-2046)tcC>tcA	p.S682S	AP1G1_ENST00000569748.1_Silent_p.S682S|AP1G1_ENST00000393512.3_Silent_p.S685S|AP1G1_ENST00000433195.2_Silent_p.S705S|AP1G1_ENST00000564155.1_Silent_p.S107S|AP1G1_ENST00000423132.2_Silent_p.S685S	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	682					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AGGGGGGCTGGGATATCTGTG	0.478																																																	0													77.0	78.0	78.0					16																	71773198		2198	4300	6498	SO:0001819	synonymous_variant	0			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2046C>A	16.37:g.71773198G>T			O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.S705	ENST00000299980.4	37	c.2115	CCDS32480.1	16																																																																																			AP1G1	-	pirsf_AP1_complex_gsu	ENSG00000166747		0.478	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G1	HGNC	protein_coding	OTTHUMT00000434147.1		0.00	24	0	G			71773198	-1			no_errors	ENST00000433195	ensembl	human	known	74_37	silent	8.11	34	3	SNP	1.000	T
ARID1B	57492	genome.wustl.edu	37	6	157469897	157469897	+	Silent	SNP	A	A	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr6:157469897A>T	ENST00000350026.5	+	8	2653	c.2652A>T	c.(2650-2652)ggA>ggT	p.G884G	ARID1B_ENST00000367148.1_Silent_p.G884G|ARID1B_ENST00000346085.5_Silent_p.G897G|ARID1B_ENST00000275248.4_Silent_p.G826G	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	884					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGCCCCTGGGACGAATGCCAT	0.587																																																	0													120.0	108.0	112.0					6																	157469897		2203	4296	6499	SO:0001819	synonymous_variant	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2652A>T	6.37:g.157469897A>T			Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G884	ENST00000350026.5	37	c.2652	CCDS5251.2	6																																																																																			ARID1B	-	NULL	ENSG00000049618		0.587	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	0.00	62	0	A	NM_020732		157469897	+1	tier1	-	no_errors	ENST00000367148	ensembl	human	known	74_37	silent	30.00	56	24	SNP	1.000	T
ARMCX5	64860	genome.wustl.edu	37	X	101858368	101858368	+	Nonsense_Mutation	SNP	T	T	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chrX:101858368T>G	ENST00000604957.1	+	1	3921	c.1299T>G	c.(1297-1299)taT>taG	p.Y433*	ARMCX5_ENST00000541409.1_Nonsense_Mutation_p.Y433*|ARMCX5_ENST00000536530.1_Nonsense_Mutation_p.Y433*|ARMCX5_ENST00000246174.2_Nonsense_Mutation_p.Y433*|ARMCX5_ENST00000372742.1_Nonsense_Mutation_p.Y433*|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000537008.1_Nonsense_Mutation_p.Y433*|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	433										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TTACCAGTTATATTCCAGATT	0.373																																																	0													55.0	53.0	54.0					X																	101858368		2203	4300	6503	SO:0001587	stop_gained	0				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1299T>G	X.37:g.101858368T>G	ENSP00000474720:p.Tyr433*		B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.Y433*	ENST00000604957.1	37	c.1299	CCDS14500.1	X	.	.	.	.	.	.	.	.	.	.	T	39	7.308225	0.98203	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	.	.	.	4.11	-0.848	0.10727	.	0.000000	0.38217	N	0.001772	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.271	7.3129	0.26485	0.0:0.3977:0.0:0.6023	.	.	.	.	X	433	.	ENSP00000246174:Y433X	Y	+	3	2	ARMCX5	101745024	0.604000	0.26932	0.043000	0.18650	0.624000	0.37722	-1.143000	0.03200	-0.282000	0.09128	-0.395000	0.06472	TAT	ARMCX5	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000125962		0.373	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX5	HGNC	protein_coding	OTTHUMT00000469659.1	-	0.00	43	0	T	NM_022838		101858368	+1	tier1	-	no_errors	ENST00000246174	ensembl	human	known	74_37	nonsense	63.41	45	78	SNP	0.051	G
ASXL1	171023	genome.wustl.edu	37	20	31022250	31022250	+	Missense_Mutation	SNP	A	A	T	rs368930454		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr20:31022250A>T	ENST00000375687.4	+	13	2159	c.1735A>T	c.(1735-1737)Atc>Ttc	p.I579F	ASXL1_ENST00000306058.5_Missense_Mutation_p.I574F	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	579	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ACTTTCACGTATCAAACCACC	0.488			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													53.0	57.0	56.0					20																	31022250		2203	4300	6503	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1735A>T	20.37:g.31022250A>T	ENSP00000364839:p.Ile579Phe		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.I579F	ENST00000375687.4	37	c.1735	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	A	21.9	4.219461	0.79464	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.53206	0.63;0.63	5.09	5.09	0.68999	.	0.077939	0.64402	D	0.000001	T	0.66137	0.2759	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.69308	-0.5179	10	0.72032	D	0.01	-13.9758	15.3373	0.74266	1.0:0.0:0.0:0.0	.	574;579	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	F	579;579;579;518;574	ENSP00000364839:I579F;ENSP00000305119:I574F	ENSP00000305119:I574F	I	+	1	0	ASXL1	30485911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.722000	0.91452	2.279000	0.76181	0.459000	0.35465	ATC	ASXL1	-	NULL	ENSG00000171456		0.488	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	-	0.00	43	0	A	NM_015338		31022250	+1	tier1	-	no_errors	ENST00000375687	ensembl	human	known	74_37	missense	14.10	67	11	SNP	1.000	T
ATP2C1	27032	genome.wustl.edu	37	3	130698257	130698257	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr3:130698257G>T	ENST00000510168.1	+	19	2285	c.1735G>T	c.(1735-1737)Gca>Tca	p.A579S	ATP2C1_ENST00000508532.1_Missense_Mutation_p.A579S|ATP2C1_ENST00000328560.8_Missense_Mutation_p.A579S|ATP2C1_ENST00000504948.1_Missense_Mutation_p.A563S|ATP2C1_ENST00000533801.2_Missense_Mutation_p.A574S|ATP2C1_ENST00000422190.2_Missense_Mutation_p.A579S|ATP2C1_ENST00000513801.1_Missense_Mutation_p.A563S|ATP2C1_ENST00000359644.3_Missense_Mutation_p.A579S|ATP2C1_ENST00000507488.2_Missense_Mutation_p.A563S|ATP2C1_ENST00000504381.1_Missense_Mutation_p.A524S|ATP2C1_ENST00000393221.4_Missense_Mutation_p.A613S|ATP2C1_ENST00000428331.2_Missense_Mutation_p.A579S|ATP2C1_ENST00000505330.1_Missense_Mutation_p.A563S			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	579					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACTGCAGTTGCAATCGGTAT	0.348									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)												0													88.0	87.0	87.0					3																	130698257		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1735G>T	3.37:g.130698257G>T	ENSP00000427461:p.Ala579Ser		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.A613S	ENST00000510168.1	37	c.1837	CCDS46914.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.21|16.21	3.058664|3.058664	0.55325|0.55325	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.96396|.	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);|.	0.050553|.	0.85682|.	D|.	0.000000|.	T|T	0.60869|0.60869	0.2302|0.2302	L|L	0.33189|0.33189	0.99|0.99	0.80722|0.80722	D|D	1|1	P;P;P;P;P;P;P|.	0.38335|.	0.627;0.476;0.502;0.627;0.502;0.475;0.531|.	B;B;B;B;B;B;B|.	0.43950|.	0.31;0.361;0.437;0.233;0.437;0.233;0.344|.	T|T	0.53802|0.53802	-0.8387|-0.8387	10|5	0.51188|.	T|.	0.08|.	.|.	19.7806|19.7806	0.96414|0.96414	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	613;574;613;579;613;579;579|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	S|F	563;524;563;613;574;579;579;563;563;579;579;579;579;578|532	ENSP00000423774:A563S;ENSP00000425320:A524S;ENSP00000421326:A563S;ENSP00000376914:A613S;ENSP00000432956:A574S;ENSP00000427461:A579S;ENSP00000424783:A579S;ENSP00000423330:A563S;ENSP00000422872:A563S;ENSP00000329664:A579S;ENSP00000395809:A579S;ENSP00000352665:A579S;ENSP00000402677:A579S|.	ENSP00000329664:A579S|.	A|L	+|+	1|3	0|2	ATP2C1|ATP2C1	132180947|132180947	1.000000|1.000000	0.71417|0.71417	0.458000|0.458000	0.27068|0.27068	0.885000|0.885000	0.51271|0.51271	4.986000|4.986000	0.63851|0.63851	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	GCA|TTG	ATP2C1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000017260		0.348	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	-	0.00	50	0	G	NM_001001486		130698257	+1	tier1	-	no_errors	ENST00000393221	ensembl	human	known	74_37	missense	5.56	67	4	SNP	1.000	T
C1orf56	54964	genome.wustl.edu	37	1	151022913	151022913	+	Splice_Site	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:151022913G>T	ENST00000368926.5	+	2	1113		c.e2-1		CDC42SE1_ENST00000492796.1_5'Flank|C1orf56_ENST00000465135.1_Splice_Site	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56							cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCTTACGCAGATAGACAGAA	0.418																																					GBM(146;891 3320 6873)												0													180.0	187.0	185.0					1																	151022913		2203	4300	6503	SO:0001630	splice_region_variant	0			BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.1006-1G>T	1.37:g.151022913G>T			B2RDU8|Q9NWZ4	Splice_Site	SNP	-	e2-1	ENST00000368926.5	37	c.1006-1	CCDS980.1	1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513018	0.64522	.	.	ENSG00000143443	ENST00000368926	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2988	0.66331	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf56	149289537	1.000000	0.71417	0.874000	0.34290	0.982000	0.71751	4.235000	0.58666	2.756000	0.94617	0.561000	0.74099	.	C1orf56	-	-	ENSG00000143443		0.418	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf56	HGNC	protein_coding	OTTHUMT00000085101.1		0.00	66	0	G	NM_017860	Intron	151022913	+1			no_errors	ENST00000368926	ensembl	human	known	74_37	splice_site	5.36	53	3	SNP	0.932	T
Unknown	0	genome.wustl.edu	37	22	49834744	49834744	+	IGR	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr22:49834744C>T								C22orf34 (15658 upstream) : MIR3667 (102296 downstream)																							gtgctagtaccgtctccttct	0.592																																																	0																																										SO:0001628	intergenic_variant	0																															22.37:g.49834744C>T				Missense_Mutation	SNP	NULL	p.R58Q		37	c.173		22																																																																																			C22orf34	-	NULL	ENSG00000188511	0	0.592					C22orf34	HGNC			-	0.00	44	0	C			49834744	-1	tier1	-	no_errors	ENST00000414287	ensembl	human	known	74_37	missense	18.09	77	17	SNP	0.002	T
CAD	790	genome.wustl.edu	37	2	27445849	27445849	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:27445849C>G	ENST00000403525.1	+	6	897	c.753C>G	c.(751-753)atC>atG	p.I251M	CAD_ENST00000264705.4_Missense_Mutation_p.I251M			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTGGGATCTGCCTGGGAC	0.542																																																	0													93.0	81.0	85.0					2																	27445849		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.753C>G	2.37:g.27445849C>G	ENSP00000384510:p.Ile251Met		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.I251M	ENST00000403525.1	37	c.753		2	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641092	0.67244	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.95205	-3.64;-3.64	5.04	5.04	0.67666	Carbamoyl-phosphate synthase, GATase domain (1);Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	H	0.99951	5.03	0.51767	D	0.999935	D;D	0.89917	1.0;0.977	D;P	0.78314	0.991;0.9	D	0.98871	1.0766	10	0.87932	D	0	8.8847	16.2249	0.82285	0.0:1.0:0.0:0.0	.	251;251	F8VPD4;P27708	.;PYR1_HUMAN	M	251	ENSP00000264705:I251M;ENSP00000384510:I251M	ENSP00000264705:I251M	I	+	3	3	CAD	27299353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.156000	0.31712	2.501000	0.84356	0.491000	0.48974	ATC	CAD	-	pfam_GATASE,tigrfam_CarbamoylP_synth_ssu	ENSG00000084774		0.542	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	-	0.00	87	0	C			27445849	+1	tier1	-	no_errors	ENST00000264705	ensembl	human	known	74_37	missense	23.47	75	23	SNP	1.000	G
CNTN2	6900	genome.wustl.edu	37	1	205034965	205034965	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:205034965G>T	ENST00000331830.4	+	14	2028	c.1744G>T	c.(1744-1746)Ggg>Tgg	p.G582W		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	582	Ig-like C2-type 6.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCTGCGCCATGGGGGGAAGTA	0.642																																					Melanoma(183;2548 2817 37099 41192)												0													91.0	80.0	84.0					1																	205034965		2203	4300	6503	SO:0001583	missense	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1744G>T	1.37:g.205034965G>T	ENSP00000330633:p.Gly582Trp		P78432|Q5T054	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G582W	ENST00000331830.4	37	c.1744	CCDS1449.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297220	0.81025	.	.	ENSG00000184144	ENST00000331830	T	0.28069	1.63	5.75	5.75	0.90469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.294246	0.23876	N	0.043696	T	0.49830	0.1580	L	0.60455	1.87	0.39728	D	0.971575	D;D	0.67145	0.996;0.996	P;P	0.61874	0.895;0.895	T	0.51036	-0.8756	10	0.87932	D	0	.	15.4368	0.75152	0.0:0.0:0.8605:0.1395	.	582;473	Q02246;Q68DA2	CNTN2_HUMAN;.	W	582	ENSP00000330633:G582W	ENSP00000330633:G582W	G	+	1	0	CNTN2	203301588	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.024000	0.57218	2.718000	0.92993	0.591000	0.81541	GGG	CNTN2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000184144		0.642	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3		0.00	55	0	G	NM_005076		205034965	+1			no_errors	ENST00000331830	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.985	T
CENPF	1063	genome.wustl.edu	37	1	214794199	214794199	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:214794199T>G	ENST00000366955.3	+	6	943	c.775T>G	c.(775-777)Ttg>Gtg	p.L259V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCGATCAACTTTGCAAATAGG	0.373																																					Colon(80;575 1284 11000 14801 43496)												0													73.0	81.0	78.0					1																	214794199		2203	4299	6502	SO:0001583	missense	0			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.775T>G	1.37:g.214794199T>G	ENSP00000355922:p.Leu259Val		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.L259V	ENST00000366955.3	37	c.775	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	T	5.925	0.354652	0.11239	.	.	ENSG00000117724	ENST00000366955	T	0.21734	1.99	5.47	-3.94	0.04130	Centromere protein Cenp-F, N-terminal (1);	1.271930	0.06026	N	0.652232	T	0.11281	0.0275	.	.	.	0.09310	N	1	B	0.27416	0.178	B	0.33254	0.16	T	0.32955	-0.9887	9	0.23302	T	0.38	.	1.6931	0.02856	0.2013:0.2455:0.3659:0.1873	.	259	P49454	CENPF_HUMAN	V	259	ENSP00000355922:L259V	ENSP00000355922:L259V	L	+	1	2	CENPF	212860822	0.000000	0.05858	0.000000	0.03702	0.710000	0.40934	-0.785000	0.04628	-0.912000	0.03837	0.491000	0.48974	TTG	CENPF	-	pfam_Centromere_CenpF_N	ENSG00000117724		0.373	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	-	0.00	25	0	T	NM_016343		214794199	+1	tier1	-	no_errors	ENST00000366955	ensembl	human	known	74_37	missense	26.32	28	10	SNP	0.000	G
CSMD3	114788	genome.wustl.edu	37	8	113267492	113267492	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:113267492G>A	ENST00000297405.5	-	62	10271	c.10027C>T	c.(10027-10029)Cac>Tac	p.H3343Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.H3303Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H3273Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H3174Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3343	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTATGCAGTGAGGTGATGAA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													115.0	107.0	110.0					8																	113267492		2203	4299	6502	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10027C>T	8.37:g.113267492G>A	ENSP00000297405:p.His3343Tyr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H3343Y	ENST00000297405.5	37	c.10027	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143297	0.37825	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.2	4.32	0.51571	Complement control module (2);Sushi/SCR/CCP (3);	0.079821	0.50627	D	0.000107	T	0.43919	0.1269	N	0.13299	0.325	0.43824	D	0.996392	P;B;B	0.35468	0.503;0.218;0.059	B;B;B	0.32677	0.118;0.121;0.15	T	0.36744	-0.9735	10	0.25751	T	0.34	.	15.3563	0.74428	0.0:0.0:0.8596:0.1404	.	3174;3343;3303	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	3303;3343;2613;3174;3273	ENSP00000345799:H3303Y;ENSP00000297405:H3343Y;ENSP00000341558:H2613Y;ENSP00000412263:H3174Y;ENSP00000343124:H3273Y	ENSP00000297405:H3343Y	H	-	1	0	CSMD3	113336668	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	6.251000	0.72441	1.419000	0.47118	-0.169000	0.13324	CAC	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	50	0	G	NM_052900		113267492	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	21.43	55	15	SNP	1.000	A
CSNK1G2	1455	genome.wustl.edu	37	19	1954417	1954417	+	Intron	DEL	A	A	-			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr19:1954417delA	ENST00000255641.8	+	1	230				CSNK1G2-AS1_ENST00000586395.1_RNA|CSNK1G2-AS1_ENST00000314315.3_RNA	NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2						protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGTCAGAGGGCAGGGCC	0.677																																					Ovarian(91;880 1392 21236 36928 37598)												0																																										SO:0001627	intron_variant	0			AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.-266+13000A>-	19.37:g.1954417delA			B5BU42|O00704|Q8WUB1	RNA	DEL	-	NULL	ENST00000255641.8	37	NULL	CCDS12077.1	19																																																																																			CSNK1G2-AS1	-	-	ENSG00000180846		0.677	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1G2-AS1	HGNC	protein_coding	OTTHUMT00000449287.1		0.00	13	0	A	NM_001319		1954417	-1	tier1		no_errors	ENST00000314315	ensembl	human	known	74_37	rna	66.67	1	2	DEL	0.006	-
CTNNA3	29119	genome.wustl.edu	37	10	67680368	67680368	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr10:67680368C>T	ENST00000433211.2	-	18	2582	c.2408G>A	c.(2407-2409)aGt>aAt	p.S803N	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.S803N	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGATGTGACACTGTCCAACTG	0.438																																																	0													74.0	68.0	70.0					10																	67680368		2203	4300	6503	SO:0001583	missense	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2408G>A	10.37:g.67680368C>T	ENSP00000389714:p.Ser803Asn			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.S803N	ENST00000433211.2	37	c.2408	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909310	0.72868	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.45276	0.9;0.9;0.9	5.87	5.87	0.94306	.	0.165679	0.43260	D	0.000587	T	0.71854	0.3389	M	0.90369	3.11	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.75783	-0.3196	10	0.56958	D	0.05	-19.8677	17.7754	0.88505	0.0:1.0:0.0:0.0	.	803	Q9UI47	CTNA3_HUMAN	N	803;803;142	ENSP00000389714:S803N;ENSP00000362849:S803N;ENSP00000362840:S142N	ENSP00000362840:S142N	S	-	2	0	CTNNA3	67350374	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.815000	0.86186	2.800000	0.96347	0.644000	0.83932	AGT	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000183230		0.438	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	-	0.00	53	0	C	NM_013266		67680368	-1	tier1	-	no_errors	ENST00000373744	ensembl	human	known	74_37	missense	15.79	48	9	SNP	1.000	T
DGKI	9162	genome.wustl.edu	37	7	137206686	137206686	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr7:137206686C>G	ENST00000288490.5	-	21	2174	c.2174G>C	c.(2173-2175)aGg>aCg	p.R725T	DGKI_ENST00000446122.1_Missense_Mutation_p.R725T|DGKI_ENST00000424189.2_Missense_Mutation_p.R746T|DGKI_ENST00000453654.2_Missense_Mutation_p.R425T	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	725					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CACCCGGATCCTCAGACGATC	0.453																																																	0													88.0	77.0	80.0					7																	137206686		2203	4300	6503	SO:0001583	missense	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2174G>C	7.37:g.137206686C>G	ENSP00000288490:p.Arg725Thr		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R725T	ENST00000288490.5	37	c.2174	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824182	0.90955	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.40225	1.66;1.04;1.26	5.87	5.87	0.94306	.	0.096946	0.64402	D	0.000001	T	0.60971	0.2310	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.992;0.996	P;D	0.63703	0.811;0.917	T	0.58584	-0.7611	10	0.62326	D	0.03	.	20.1777	0.98189	0.0:1.0:0.0:0.0	.	425;725	E9PFX6;O75912	.;DGKI_HUMAN	T	425;673;746;725;725	ENSP00000392161:R425T;ENSP00000288490:R725T;ENSP00000399131:R725T	ENSP00000288490:R725T	R	-	2	0	DGKI	136857226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.838000	0.62803	2.941000	0.99782	0.655000	0.94253	AGG	DGKI	-	NULL	ENSG00000157680		0.453	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	-	0.00	41	0	C	NM_004717		137206686	-1	tier1	-	no_errors	ENST00000288490	ensembl	human	known	74_37	missense	17.19	53	11	SNP	1.000	G
DIAPH2	1730	genome.wustl.edu	37	X	96212977	96212977	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chrX:96212977G>T	ENST00000324765.8	+	16	2112	c.1765G>T	c.(1765-1767)Ggg>Tgg	p.G589W	DIAPH2_ENST00000373054.4_Missense_Mutation_p.G585W|DIAPH2_ENST00000355827.4_Missense_Mutation_p.G589W|DIAPH2_ENST00000373061.3_Missense_Mutation_p.G589W|DIAPH2_ENST00000373049.4_Missense_Mutation_p.G589W			O60879	DIAP2_HUMAN	diaphanous-related formin 2	589	FH1.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TGGAATGATGGGGATACCACC	0.597																																																	0													60.0	53.0	55.0					X																	96212977		2203	4300	6503	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1765G>T	X.37:g.96212977G>T	ENSP00000321348:p.Gly589Trp		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.G589W	ENST00000324765.8	37	c.1765	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720061	0.30503	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.34	1.16	0.20824	.	13.034700	0.00166	N	0.000013	T	0.46308	0.1386	M	0.84948	2.725	0.09310	N	1	P;D	0.54964	0.948;0.969	P;P	0.55508	0.604;0.777	T	0.25433	-1.0132	10	0.38643	T	0.18	.	10.1599	0.42844	0.0741:0.3727:0.5532:0.0	.	589;589	O60879;O60879-2	DIAP2_HUMAN;.	W	589;585;589;589;589;596	ENSP00000362152:G589W;ENSP00000362145:G585W;ENSP00000348082:G589W;ENSP00000362140:G589W;ENSP00000321348:G589W	ENSP00000321348:G589W	G	+	1	0	DIAPH2	96099633	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.208000	0.17415	0.086000	0.17137	0.594000	0.82650	GGG	DIAPH2	-	NULL	ENSG00000147202		0.597	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2		0.00	31	0	G	NM_006729, NM_007309		96212977	+1			no_errors	ENST00000324765	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	T
DMTF1	9988	genome.wustl.edu	37	7	86815159	86815162	+	Frame_Shift_Del	DEL	ATGT	ATGT	-			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	ATGT	ATGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr7:86815159_86815162delATGT	ENST00000394703.5	+	14	1627_1630	c.1064_1067delATGT	c.(1063-1068)gatgtafs	p.DV355fs	DMTF1_ENST00000331242.7_Frame_Shift_Del_p.DV355fs|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.DV355fs|DMTF1_ENST00000414194.2_Frame_Shift_Del_p.DV89fs|DMTF1_ENST00000432937.2_Frame_Shift_Del_p.DV267fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	355	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GCAGAACTTGATGTAGCTGATGAA	0.407																																																	0																																										SO:0001589	frameshift_variant	0			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1064_1067delATGT	7.37:g.86815159_86815162delATGT	ENSP00000378193:p.Asp355fs		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Frame_Shift_Del	DEL	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.D355fs	ENST00000394703.5	37	c.1064_1067	CCDS5601.1	7																																																																																			DMTF1	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000135164		0.407	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	DMTF1	HGNC	protein_coding	OTTHUMT00000334025.5		0.00	108	0	ATGT	NM_021145		86815162	+1	tier1		no_errors	ENST00000331242	ensembl	human	known	74_37	frame_shift_del	29.56	112	47	DEL	1.000:0.998:1.000:1.000	-
DNAH7	56171	genome.wustl.edu	37	2	196729159	196729159	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:196729159G>C	ENST00000312428.6	-	41	7320	c.7220C>G	c.(7219-7221)tCt>tGt	p.S2407C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2407	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCAGAAAAGACTCTTCTTT	0.383																																																	0													92.0	88.0	89.0					2																	196729159		1880	4105	5985	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7220C>G	2.37:g.196729159G>C	ENSP00000311273:p.Ser2407Cys		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.S2407C	ENST00000312428.6	37	c.7220	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774036	0.49786	.	.	ENSG00000118997	ENST00000312428	T	0.43294	0.95	5.2	5.2	0.72013	Dynein heavy chain, P-loop containing D4 domain (1);	0.073118	0.56097	D	0.000023	T	0.71358	0.3330	M	0.90922	3.16	0.80722	D	1	D	0.53312	0.959	D	0.63793	0.918	T	0.77781	-0.2459	10	0.66056	D	0.02	.	18.5081	0.90905	0.0:0.0:1.0:0.0	.	2407	Q8WXX0	DYH7_HUMAN	C	2407	ENSP00000311273:S2407C	ENSP00000311273:S2407C	S	-	2	0	DNAH7	196437404	1.000000	0.71417	0.946000	0.38457	0.502000	0.33828	6.357000	0.73051	2.704000	0.92352	0.650000	0.86243	TCT	DNAH7	-	superfamily_P-loop_NTPase	ENSG00000118997		0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0.00	36	0	G	NM_018897		196729159	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	C
DOCK2	1794	genome.wustl.edu	37	5	169507274	169507274	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr5:169507274G>A	ENST00000256935.8	+	50	5354	c.5274G>A	c.(5272-5274)atG>atA	p.M1758I	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.M819I|DOCK2_ENST00000520908.1_Missense_Mutation_p.M1250I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1758					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCAGTCCATGCCTACCATCC	0.582																																																	0													113.0	94.0	100.0					5																	169507274		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5274G>A	5.37:g.169507274G>A	ENSP00000256935:p.Met1758Ile		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.M1758I	ENST00000256935.8	37	c.5274	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838003	0.71373	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08458	3.77;3.39;3.09	5.42	5.42	0.78866	.	0.239029	0.42294	D	0.000721	T	0.07369	0.0186	N	0.19112	0.55	0.46096	D	0.998862	B;P;B	0.39831	0.278;0.69;0.07	B;B;B	0.36666	0.057;0.23;0.016	T	0.39210	-0.9625	10	0.37606	T	0.19	.	18.0424	0.89322	0.0:0.0:1.0:0.0	.	1250;314;1758	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	I	1758;1250;819	ENSP00000256935:M1758I;ENSP00000429283:M1250I;ENSP00000438827:M819I	ENSP00000256935:M1758I	M	+	3	0	DOCK2	169439852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.554000	0.86153	0.650000	0.86243	ATG	DOCK2	-	NULL	ENSG00000134516		0.582	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0.00	59	0	G	NM_004946		169507274	+1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	9.30	78	8	SNP	1.000	A
DPF3	8110	genome.wustl.edu	37	14	73137344	73137345	+	Intron	DEL	TC	TC	-	rs71788041		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr14:73137344_73137345delTC	ENST00000556509.1	-	8	871				DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_3'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGATTTCCCTtctctctctctc	0.396																																																	0																																										SO:0001627	intron_variant	0			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.871+3602GA>-	14.37:g.73137354_73137355delTC			A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	RNA	DEL	-	NULL	ENST00000556509.1	37	NULL		14																																																																																			DPF3	-	-	ENSG00000205683		0.396	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2		0.00	43	0	TC			73137345	-1	tier1		no_errors	ENST00000557704	ensembl	human	known	74_37	rna	13.21	46	7	DEL	0.959:0.966	-
EFCAB1	79645	genome.wustl.edu	37	8	49643126	49643126	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:49643126G>A	ENST00000262103.3	-	3	372	c.292C>T	c.(292-294)Cga>Tga	p.R98*	EFCAB1_ENST00000523092.1_Nonsense_Mutation_p.R46*|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Nonsense_Mutation_p.R46*	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	98	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AAAGATCCTCGAAGAAACAGT	0.343																																																	0													117.0	105.0	109.0					8																	49643126		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.292C>T	8.37:g.49643126G>A	ENSP00000262103:p.Arg98*		B4DSB4|E7EVN7	Nonsense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.R98*	ENST00000262103.3	37	c.292	CCDS6145.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.731224|5.731224	0.96856|0.96856	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092|ENST00000522254	.|.	.|.	.|.	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	0.060216|.	0.64402|.	D|.	0.000002|.	.|T	.|0.65344	.|0.2682	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70655	.|-0.4812	.|3	0.02654|.	T|.	1|.	.|.	14.9317|14.9317	0.70919|0.70919	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	46;98;98;46|15	.|.	ENSP00000262103:R98X|.	R|S	-|-	1|2	2|0	EFCAB1|EFCAB1	49805679|49805679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	6.598000|6.598000	0.74122|0.74122	2.441000|2.441000	0.82636|0.82636	0.563000|0.563000	0.77884|0.77884	CGA|TCG	EFCAB1	-	pfscan_EF_hand_dom,prints_Recoverin	ENSG00000034239		0.343	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB1	HGNC	protein_coding	OTTHUMT00000377778.1		0.00	23	0	G	NM_024593		49643126	-1			no_errors	ENST00000262103	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	1.000	A
EML6	400954	genome.wustl.edu	37	2	55091009	55091009	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:55091009A>G	ENST00000356458.6	+	12	2435	c.1915A>G	c.(1915-1917)Atc>Gtc	p.I639V		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	639						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						AGAAGCTCAAATCAATTATGA	0.428																																																	0													77.0	63.0	67.0					2																	55091009		692	1591	2283	SO:0001583	missense	0				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.1915A>G	2.37:g.55091009A>G	ENSP00000348842:p.Ile639Val		A8MUB5|B6ZDG7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I639V	ENST00000356458.6	37	c.1915	CCDS46286.1	2	.	.	.	.	.	.	.	.	.	.	A	8.131	0.782998	0.16189	.	.	ENSG00000214595	ENST00000356458	T	0.32023	1.47	5.42	5.42	0.78866	.	0.244848	0.13404	U	0.390399	T	0.19406	0.0466	N	0.12746	0.255	0.29270	N	0.870736	B	0.21821	0.061	B	0.20184	0.028	T	0.09314	-1.0680	10	0.12766	T	0.61	.	15.4529	0.75290	1.0:0.0:0.0:0.0	.	639	Q6ZMW3	EMAL6_HUMAN	V	639	ENSP00000348842:I639V	ENSP00000348842:I639V	I	+	1	0	EML6	54944513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.982000	0.76173	2.044000	0.60594	0.482000	0.46254	ATC	EML6	-	NULL	ENSG00000214595		0.428	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	-	0.00	38	0	A	XM_001725002		55091009	+1	tier1	-	no_errors	ENST00000356458	ensembl	human	novel	74_37	missense	12.50	63	9	SNP	1.000	G
ENOX1	55068	genome.wustl.edu	37	13	43986175	43986175	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr13:43986175C>T	ENST00000261488.6	-	5	662	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	ENOX1_ENST00000412891.1_Missense_Mutation_p.G29R	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	29					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCTATACTCCCCAAACCATCG	0.478																																																	0													114.0	102.0	106.0					13																	43986175		2203	4300	6503	SO:0001583	missense	0			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.85G>A	13.37:g.43986175C>T	ENSP00000261488:p.Gly29Arg		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G29R	ENST00000261488.6	37	c.85	CCDS9389.1	13	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897288	0.33535	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.42513	0.97;0.97	5.62	5.62	0.85841	.	0.058966	0.64402	D	0.000003	T	0.41880	0.1178	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.56343	0.796	T	0.08953	-1.0697	10	0.02654	T	1	0.6306	19.0063	0.92852	0.0:1.0:0.0:0.0	.	29	Q8TC92	ENOX1_HUMAN	R	29	ENSP00000261488:G29R;ENSP00000415054:G29R	ENSP00000261488:G29R	G	-	1	0	ENOX1	42884175	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.259000	0.51515	2.809000	0.96659	0.467000	0.42956	GGG	ENOX1	-	NULL	ENSG00000120658		0.478	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	-	0.00	70	0	C	NM_017993		43986175	-1	tier1	-	no_errors	ENST00000261488	ensembl	human	known	74_37	missense	16.84	79	16	SNP	1.000	T
SNX29P2	440352	genome.wustl.edu	37	16	29496887	29496887	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr16:29496887G>T	ENST00000354563.5	-	3	798	c.388C>A	c.(388-390)Cct>Act	p.P130T	SNX29P2_ENST00000398878.3_lincRNA																endometrium(1)|kidney(1)	2						CACTCAGGAGGTGTCTTGAGA	0.567																																																	0																																										SO:0001583	missense	0																														ENST00000354563.5:c.388C>A	16.37:g.29496887G>T	ENSP00000346572:p.Pro130Thr			Missense_Mutation	SNP	NULL	p.P130T	ENST00000354563.5	37	c.388		16	.	.	.	.	.	.	.	.	.	.	g	9.032	0.987543	0.18966	.	.	ENSG00000169203	ENST00000354563;ENST00000398875;ENST00000550665	T	0.19669	2.13	.	.	.	.	.	.	.	.	T	0.20170	0.0485	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.25882	-1.0119	4	0.54805	T	0.06	.	.	.	.	.	.	.	.	T	130;42;304	ENSP00000447597:P304T	ENSP00000346572:P130T	P	-	1	0	RP11-231C14.4	29404388	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.064000	0.14437	0.064000	0.16427	0.064000	0.15345	CCT	RP11-231C14.4	-	NULL	ENSG00000169203		0.567	RP11-231C14.4-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000169203	Clone_based_vega_gene	protein_coding		-	0.00	13	0	G			29496887	-1	tier1	-	no_errors	ENST00000354563	ensembl	human	known	74_37	missense	47.37	10	9	SNP	0.002	T
AAK1	22848	genome.wustl.edu	37	2	69691326	69691327	+	Intron	INS	-	-	AAC	rs377035234|rs200702740|rs141290500		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:69691326_69691327insAAC	ENST00000409068.1	-	15	2300				RP11-427H3.3_ENST00000606389.2_lincRNA			Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1						endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						AGAGATTTGGAaacaacaacaa	0.386																																																	0																																										SO:0001627	intron_variant	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409068.1:c.1987-2489->GTT	2.37:g.69691333_69691335dupAAC			Q4ZFZ3|Q53RX6|Q9UPV4	RNA	INS	-	NULL	ENST00000409068.1	37	NULL		2																																																																																			RP11-427H3.3	-	-	ENSG00000188971		0.386	AAK1-011	PUTATIVE	basic	protein_coding	ENSG00000188971	Clone_based_vega_gene	protein_coding	OTTHUMT00000333994.1		0.00	8	0	-	NM_014911		69691327	-1	tier1		no_errors	ENST00000606389	ensembl	human	known	74_37	rna	26.32	14	5	INS	0.000:0.000	AAC
Unknown	0	genome.wustl.edu	37	GL000212.1	65796	65797	+	IGR	DNP	GC	GC	AG			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chrGL000212.1:65796_65797GC>AG								None (None upstream) : None (None downstream)																							CCACGGCTTCGCTAACGAGGAC	0.644																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.65796_65797delinsAG				Silent|Missense_Mutation	SNP	NULL	p.S515|p.L516V		37	c.1545|c.1546		GL000212.1																																																																																			AL356585.1	-	NULL	ENSG00000212857	0	0.644					ENSG00000212857	Clone_based_ensembl_gene			-	0.00	94|93	0	G|C			65796|65797	+1	tier1	-	no_errors	ENST00000391545	ensembl	human	known	74_37	silent|missense	8.73|8.77	209|207	20	SNP	NULL	A|G
RP11-764K9.1	0	genome.wustl.edu	37	9	68400387	68400387	+	lincRNA	DEL	C	C	-	rs111626719		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr9:68400387delC	ENST00000417843.2	-	0	1432																											GATCTGGGGTCCTCTGATGAG	0.542																																																	0																																												0																															9.37:g.68400387delC				RNA	DEL	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			RP11-764K9.1	-	-	ENSG00000225411		0.542	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	Clone_based_vega_gene	lincRNA	OTTHUMT00000129817.2		0.00	20	0	C			68400387	-1	tier1		no_errors	ENST00000417843	ensembl	human	known	74_37	rna	25.00	9	3	DEL	0.103	-
TRAPPC13	80006	genome.wustl.edu	37	5	64926000	64926000	+	Intron	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr5:64926000G>A	ENST00000399438.3	+	1	391				TRAPPC13_ENST00000545191.1_Intron|CTC-534A2.2_ENST00000510585.2_Missense_Mutation_p.E196K|TRAPPC13_ENST00000438419.2_Intron|TRAPPC13_ENST00000505553.1_Intron|TRAPPC13_ENST00000231526.4_Intron	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13																		TAGGCACAATGAACTTCCATC	0.358																																																	0																																										SO:0001627	intron_variant	0				CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"""Trs65-related"""		"""chromosome 5 open reading frame 44"""	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.46+5067G>A	5.37:g.64926000G>A			Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	NULL	p.E196K	ENST00000399438.3	37	c.586	CCDS47222.1	5	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845476	0.71603	.	.	ENSG00000253251	ENST00000510585	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.76314	0.3970	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.74396	-0.3679	7	0.39692	T	0.17	.	14.1851	0.65601	0.0:0.0:0.8505:0.1495	.	196	Q6ZNX1	.	K	196	.	ENSP00000424007:E196K	E	+	1	0	CTC-534A2.2	64961756	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.056000	0.57448	2.868000	0.98415	0.557000	0.71058	GAA	CTC-534A2.2	-	NULL	ENSG00000253251		0.358	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000253251	Clone_based_vega_gene	protein_coding	OTTHUMT00000370113.1	-	0.00	33	0	G	NM_024941		64926000	+1	tier1	-	no_errors	ENST00000510585	ensembl	human	putative	74_37	missense	20.93	34	9	SNP	1.000	A
ATP2C2	9914	genome.wustl.edu	37	16	84494107	84494108	+	Intron	INS	-	-	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr16:84494107_84494108insG	ENST00000262429.4	+	24	2422				ATP2C2_ENST00000420010.2_Intron|ATP2C2_ENST00000416219.2_Intron|RP11-517C16.2_ENST00000565700.1_RNA	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GAAGGTGCCGAGGAGGGCAGGT	0.649																																																	0																																										SO:0001627	intron_variant	0			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2334-152->G	16.37:g.84494109_84494109dupG			B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	RNA	INS	-	NULL	ENST00000262429.4	37	NULL	CCDS42207.1	16																																																																																			RP11-517C16.2	-	-	ENSG00000261286		0.649	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261286	Clone_based_vega_gene	protein_coding	OTTHUMT00000433404.1		0.00	106	0	-	NM_014861		84494108	-1	tier1		no_errors	ENST00000565700	ensembl	human	known	74_37	rna	27.35	85	32	INS	0.000:0.000	G
EP300	2033	genome.wustl.edu	37	22	41565533	41565533	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr22:41565533G>T	ENST00000263253.7	+	26	5418	c.4199G>T	c.(4198-4200)aGt>aTt	p.S1400I	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1400	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TACCTCGATAGTGTTCATTTC	0.338			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													101.0	95.0	97.0					22																	41565533		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4199G>T	22.37:g.41565533G>T	ENSP00000263253:p.Ser1400Ile		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S1400I	ENST00000263253.7	37	c.4199	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492996	0.84962	.	.	ENSG00000100393	ENST00000263253	D	0.96491	-4.03	5.55	5.55	0.83447	.	0.000000	0.53938	D	0.000056	D	0.98861	0.9615	H	0.96518	3.835	0.58432	D	0.999998	D	0.76494	0.999	D	0.87578	0.998	D	0.99441	1.0938	10	0.87932	D	0	-9.0117	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1400	Q09472	EP300_HUMAN	I	1400	ENSP00000263253:S1400I	ENSP00000263253:S1400I	S	+	2	0	EP300	39895479	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	AGT	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109	ENSG00000100393		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0.00	25	0	G	NM_001429		41565533	+1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	33.77	51	26	SNP	1.000	T
FAHD2B	151313	genome.wustl.edu	37	2	97757727	97757727	+	Splice_Site	DEL	T	T	-			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:97757727delT	ENST00000414820.1	-	2	139		c.e2-2		FAHD2B_ENST00000272610.3_Intron|FAHD2B_ENST00000468548.1_Intron|FAHD2B_ENST00000440566.2_5'Flank			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B								hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						TTGGCTCTGCTGTAGGTATTG	0.488																																																	0																																										SO:0001630	splice_region_variant	0				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.132-2A>-	2.37:g.97757727delT			D3DXH7|Q8NDK1	Splice_Site	DEL	-	e1-2	ENST00000414820.1	37	c.1-2	CCDS2030.1	2																																																																																			FAHD2B	-	-	ENSG00000144199		0.488	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1		0.00	8	0	T	NM_199336	Intron	97757727	-1	tier1		no_errors	ENST00000414820	ensembl	human	known	74_37	splice_site_del	50.00	3	3	DEL	0.244	-
FAM135A	57579	genome.wustl.edu	37	6	71234985	71234985	+	Missense_Mutation	SNP	G	G	A	rs143752744	byFrequency	TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr6:71234985G>A	ENST00000418814.2	+	15	2812	c.2198G>A	c.(2197-2199)cGa>cAa	p.R733Q	FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.R537Q|FAM135A_ENST00000457062.2_Missense_Mutation_p.R520Q|FAM135A_ENST00000505868.1_Missense_Mutation_p.R733Q|FAM135A_ENST00000370479.3_Missense_Mutation_p.R520Q	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	733										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ACTAAATTACGAAGTAATCTA	0.323													G|||	5	0.000998403	0.0038	0.0	5008	,	,		20315	0.0		0.0	False		,,,				2504	0.0																0								G	GLN/ARG,GLN/ARG,GLN/ARG	11,4395	16.8+/-37.8	0,11,2192	52.0	55.0	54.0		1610,2198,1559	4.9	1.0	6	dbSNP_134	54	0,8598		0,0,4299	yes	missense,missense,missense	FAM135A	NM_001105531.2,NM_001162529.1,NM_020819.4	43,43,43	0,11,6491	AA,AG,GG		0.0,0.2497,0.0846	possibly-damaging,possibly-damaging,possibly-damaging	537/1320,733/1516,520/1303	71234985	11,12993	2203	4299	6502	SO:0001583	missense	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2198G>A	6.37:g.71234985G>A	ENSP00000410768:p.Arg733Gln		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.R733Q	ENST00000418814.2	37	c.2198	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354230	0.41700	0.002497	0.0	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.88	4.9	0.64082	.	0.049200	0.85682	D	0.000000	T	0.21631	0.0521	M	0.61703	1.905	0.28350	N	0.920946	B;P;P;P	0.42871	0.126;0.547;0.756;0.792	B;B;B;B	0.37267	0.02;0.086;0.173;0.245	T	0.30119	-0.9989	10	0.37606	T	0.19	.	3.1237	0.06400	0.2171:0.2748:0.5081:0.0	.	733;733;537;520	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	Q	733;520;520;537;733	ENSP00000410768:R733Q;ENSP00000359510:R520Q;ENSP00000409201:R520Q;ENSP00000354913:R537Q;ENSP00000423307:R733Q	ENSP00000354913:R537Q	R	+	2	0	FAM135A	71291706	0.971000	0.33674	1.000000	0.80357	0.902000	0.53008	1.504000	0.35726	2.780000	0.95670	0.655000	0.94253	CGA	FAM135A	-	NULL	ENSG00000082269		0.323	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2	-	0.00	29	0	G	NM_020819		71234985	+1	tier1	rs143752744	no_errors	ENST00000418814	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	A
FAM13A	10144	genome.wustl.edu	37	4	89859293	89859293	+	Silent	SNP	A	A	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr4:89859293A>G	ENST00000264344.5	-	5	912	c.705T>C	c.(703-705)taT>taC	p.Y235Y	FAM13A_ENST00000509094.1_Silent_p.Y235Y|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Silent_p.Y26Y	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	235					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Y235Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CATTTTCTGTATACTCTACTT	0.368																																																	1	Substitution - coding silent(1)	large_intestine(1)											111.0	109.0	109.0					4																	89859293		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.705T>C	4.37:g.89859293A>G			B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Y235	ENST00000264344.5	37	c.705	CCDS34029.1	4																																																																																			FAM13A	-	NULL	ENSG00000138640		0.368	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	-	0.00	31	0	A			89859293	-1	tier1	-	no_errors	ENST00000264344	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.022	G
FAM69B	138311	genome.wustl.edu	37	9	139618184	139618184	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr9:139618184G>T	ENST00000371692.4	+	5	1350	c.1254G>T	c.(1252-1254)aaG>aaT	p.K418N	SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000436596.1_RNA|FAM69B_ENST00000371691.1_Missense_Mutation_p.K331N|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000447221.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	418						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		GCCACCTCAAGACTCTGCTCT	0.642																																																	0													14.0	14.0	14.0					9																	139618184		2037	3958	5995	SO:0001583	missense	0				CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.1254G>T	9.37:g.139618184G>T	ENSP00000360757:p.Lys418Asn		Q5VUD7|Q8N5N0|Q8WYU5	Missense_Mutation	SNP	pfam_FAM69_kinase_dom	p.K418N	ENST00000371692.4	37	c.1254	CCDS7004.1	9	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721655	0.48728	.	.	ENSG00000165716	ENST00000371692;ENST00000371691	T;T	0.56444	0.46;0.46	5.04	4.14	0.48551	.	0.044633	0.85682	D	0.000000	T	0.48892	0.1525	L	0.61218	1.895	0.58432	D	0.999992	B	0.30664	0.289	B	0.26517	0.07	T	0.52548	-0.8561	10	0.72032	D	0.01	-41.3071	12.1827	0.54221	0.0831:0.0:0.9169:0.0	.	418	Q5VUD6	FA69B_HUMAN	N	418;331	ENSP00000360757:K418N;ENSP00000360756:K331N	ENSP00000360756:K331N	K	+	3	2	FAM69B	138738005	1.000000	0.71417	0.945000	0.38365	0.977000	0.68977	2.191000	0.42640	1.117000	0.41842	0.462000	0.41574	AAG	FAM69B	-	NULL	ENSG00000165716		0.642	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69B	HGNC	protein_coding	OTTHUMT00000055102.1	-	0.00	55	0	G	NM_152421		139618184	+1	tier1	-	no_errors	ENST00000371692	ensembl	human	known	74_37	missense	10.64	84	10	SNP	1.000	T
FIGN	55137	genome.wustl.edu	37	2	164466292	164466292	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:164466292G>A	ENST00000333129.3	-	3	2364	c.2050C>T	c.(2050-2052)Cgc>Tgc	p.R684C	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	684					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCTTCTGTGCGCTGGACGAGC	0.522																																																	0													63.0	64.0	64.0					2																	164466292		2063	4221	6284	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.2050C>T	2.37:g.164466292G>A	ENSP00000333836:p.Arg684Cys		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R684C	ENST00000333129.3	37	c.2050	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608239	0.46527	.	.	ENSG00000182263	ENST00000333129	D	0.99014	-5.33	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99384	0.9783	M	0.87038	2.855	0.80722	D	1	D	0.63046	0.992	D	0.70935	0.971	D	0.99180	1.0867	10	0.59425	D	0.04	-21.4899	20.2723	0.98479	0.0:0.0:1.0:0.0	.	684	Q5HY92	FIGN_HUMAN	C	684	ENSP00000333836:R684C	ENSP00000333836:R684C	R	-	1	0	FIGN	164174538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.654000	0.83653	2.793000	0.96121	0.563000	0.77884	CGC	FIGN	-	superfamily_P-loop_NTPase	ENSG00000182263		0.522	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0.00	52	0	G	NM_018086		164466292	-1	tier1	-	no_errors	ENST00000333129	ensembl	human	known	74_37	missense	36.90	53	31	SNP	1.000	A
FLRT2	23768	genome.wustl.edu	37	14	86090075	86090075	+	3'UTR	DEL	A	A	-			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr14:86090075delA	ENST00000330753.4	+	0	2984				FLRT2_ENST00000554746.1_3'UTR	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTTAAATCTTAAAAAAAAAAA	0.303																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.*234A>-	14.37:g.86090075delA			A0AV84|B7ZLP3	RNA	DEL	-	NULL	ENST00000330753.4	37	NULL	CCDS9877.1	14																																																																																			FLRT2	-	-	ENSG00000185070		0.303	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1		0.00	35	0	A			86090075	+1	tier1		no_errors	ENST00000553650	ensembl	human	putative	74_37	rna	12.50	28	4	DEL	1.000	-
FNDC1	84624	genome.wustl.edu	37	6	159692412	159692412	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr6:159692412G>A	ENST00000297267.9	+	23	5823	c.5623G>A	c.(5623-5625)Gga>Aga	p.G1875R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1812R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1875					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CATCGGCTTCGGAACCCCCTA	0.582																																																	0													55.0	56.0	56.0					6																	159692412		1954	4150	6104	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5623G>A	6.37:g.159692412G>A	ENSP00000297267:p.Gly1875Arg		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G1875R	ENST00000297267.9	37	c.5623	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.93|13.93	2.383170|2.383170	0.42207|0.42207	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.41065|.	1.01;1.01|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.129686|.	0.56097|.	D|.	0.000040|.	T|T	0.12475|0.12475	0.0303|0.0303	N|N	0.02539|0.02539	-0.55|-0.55	0.36387|0.36387	D|D	0.862266|0.862266	P|.	0.52577|.	0.954|.	B|.	0.40659|.	0.336|.	T|T	0.11966|0.11966	-1.0566|-1.0566	9|5	.|.	.|.	.|.	-23.3824|-23.3824	11.3036|11.3036	0.49320|0.49320	0.1097:0.0:0.8903:0.0|0.1097:0.0:0.8903:0.0	.|.	1875|.	Q4ZHG4|.	FNDC1_HUMAN|.	R|Q	1875;1812|1770	ENSP00000297267:G1875R;ENSP00000342460:G1812R|.	.|.	G|R	+|+	1|2	0|0	FNDC1|FNDC1	159612402|159612402	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.475000|0.475000	0.33008|0.33008	5.330000|5.330000	0.65899|0.65899	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GGA|CGG	FNDC1	-	NULL	ENSG00000164694		0.582	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	-	0.00	93	0	G	NM_032532		159692412	+1	tier1	-	no_errors	ENST00000297267	ensembl	human	known	74_37	missense	48.96	49	47	SNP	0.968	A
FRA10AC1	118924	genome.wustl.edu	37	10	95431873	95431873	+	Intron	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr10:95431873C>T	ENST00000359204.4	-	13	1024				FRA10AC1_ENST00000371430.2_Intron|FRA10AC1_ENST00000536233.1_Intron|FRA10AC1_ENST00000460752.1_5'UTR	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1							nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						ACAAATGTGGCCTGTCAATAC	0.338																																																	0																																										SO:0001627	intron_variant	0			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.827-1268G>A	10.37:g.95431873C>T			C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	RNA	SNP	-	NULL	ENST00000359204.4	37	NULL	CCDS7430.1	10																																																																																			FRA10AC1	-	-	ENSG00000148690		0.338	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	HGNC	protein_coding	OTTHUMT00000049439.1	-	0.00	23	0	C	NM_145246		95431873	-1	tier1	-	no_errors	ENST00000460752	ensembl	human	known	74_37	rna	29.17	34	14	SNP	0.984	T
GAL3ST2	64090	genome.wustl.edu	37	2	242742979	242742979	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:242742979T>A	ENST00000192314.6	+	4	726	c.595T>A	c.(595-597)Ttc>Atc	p.F199I	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	199					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CGACTTCGGCTTCGACCCCAA	0.667																																																	0													42.0	34.0	37.0					2																	242742979		2202	4295	6497	SO:0001583	missense	0			AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.595T>A	2.37:g.242742979T>A	ENSP00000192314:p.Phe199Ile		Q17RK0|Q57Z52	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.F199I	ENST00000192314.6	37	c.595	CCDS33427.1	2	.	.	.	.	.	.	.	.	.	.	T	19.62	3.860978	0.71949	.	.	ENSG00000154252	ENST00000192314	T	0.14893	2.47	4.12	1.71	0.24356	.	0.222920	0.31461	N	0.007605	T	0.25606	0.0623	M	0.64676	1.99	0.18873	N	0.999982	P	0.52170	0.951	P	0.56563	0.801	T	0.07366	-1.0776	10	0.54805	T	0.06	-22.6402	4.1498	0.10232	0.153:0.1527:0.0:0.6942	.	199	Q9H3Q3	G3ST2_HUMAN	I	199	ENSP00000192314:F199I	ENSP00000192314:F199I	F	+	1	0	GAL3ST2	242391652	0.619000	0.27059	0.788000	0.31933	0.842000	0.47809	0.232000	0.17891	0.134000	0.18681	0.379000	0.24179	TTC	GAL3ST2	-	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	ENSG00000154252		0.667	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST2	HGNC	protein_coding	OTTHUMT00000322792.1	-	0.00	45	0	T	NM_022134		242742979	+1	tier1	-	no_errors	ENST00000192314	ensembl	human	known	74_37	missense	12.70	55	8	SNP	0.041	A
GINS4	84296	genome.wustl.edu	37	8	41393951	41393951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:41393951C>T	ENST00000276533.3	+	3	379	c.169C>T	c.(169-171)Cag>Tag	p.Q57*	GINS4_ENST00000523277.2_Nonsense_Mutation_p.Q57*|GINS4_ENST00000520710.1_Nonsense_Mutation_p.Q57*|GINS4_ENST00000518671.1_Nonsense_Mutation_p.Q57*|RP11-360L9.4_ENST00000523081.1_RNA	NM_032336.2	NP_115712.1	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	57					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TGTCATGGAACAGCTGGAGCA	0.473																																																	0													144.0	120.0	128.0					8																	41393951		2203	4300	6503	SO:0001587	stop_gained	0			BC005995	CCDS6116.1	8p11.21	2006-05-04			ENSG00000147536	ENSG00000147536			28226	protein-coding gene	gene with protein product		610611				12477932	Standard	NM_032336		Approved	MGC14799, SLD5	uc003xnx.3	Q9BRT9	OTTHUMG00000164079	ENST00000276533.3:c.169C>T	8.37:g.41393951C>T	ENSP00000276533:p.Gln57*		B2R8H5|D3DSY0|Q8N648	Nonsense_Mutation	SNP	pfam_GINS_complex,pirsf_GINS_Sld5	p.Q57*	ENST00000276533.3	37	c.169	CCDS6116.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.097495	0.97281	.	.	ENSG00000147536	ENST00000276533;ENST00000520710;ENST00000518671;ENST00000523277	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-21.156	17.622	0.88084	0.0:1.0:0.0:0.0	.	.	.	.	X	57	.	ENSP00000276533:Q57X	Q	+	1	0	GINS4	41513108	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	7.345000	0.79337	2.404000	0.81709	0.655000	0.94253	CAG	GINS4	-	pirsf_GINS_Sld5	ENSG00000147536		0.473	GINS4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS4	HGNC	protein_coding	OTTHUMT00000377150.1	-	0.00	65	0	C	NM_032336		41393951	+1	tier1	-	no_errors	ENST00000276533	ensembl	human	known	74_37	nonsense	18.60	70	16	SNP	1.000	T
GPR32	2854	genome.wustl.edu	37	19	51274591	51274591	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr19:51274591G>A	ENST00000270590.4	+	1	871	c.734G>A	c.(733-735)cGg>cAg	p.R245Q		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	245					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AAGCTCTTGCGGGAGGGCTGG	0.602																																					Esophageal Squamous(113;152 1581 5732 15840 44398)												0													47.0	52.0	50.0					19																	51274591		2203	4294	6497	SO:0001583	missense	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.734G>A	19.37:g.51274591G>A	ENSP00000270590:p.Arg245Gln		Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.R245Q	ENST00000270590.4	37	c.734	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441846	0.25900	.	.	ENSG00000142511	ENST00000270590	T	0.41400	1.0	2.56	-1.93	0.07594	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.49236	0.1545	M	0.71036	2.16	0.09310	N	1	D	0.53312	0.959	P	0.55713	0.782	T	0.43065	-0.9414	9	0.72032	D	0.01	.	4.7365	0.12991	0.2454:0.1769:0.5777:0.0	.	245	O75388	GPR32_HUMAN	Q	245	ENSP00000270590:R245Q	ENSP00000270590:R245Q	R	+	2	0	GPR32	55966403	0.000000	0.05858	0.001000	0.08648	0.297000	0.27493	0.084000	0.14891	-0.439000	0.07222	0.313000	0.20887	CGG	GPR32	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt	ENSG00000142511		0.602	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	-	0.00	107	0	G			51274591	+1	tier1	-	no_errors	ENST00000270590	ensembl	human	known	74_37	missense	24.78	85	28	SNP	0.048	A
GRM8	2918	genome.wustl.edu	37	7	126173838	126173838	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr7:126173838delG	ENST00000339582.2	-	9	2406	c.1598delC	c.(1597-1599)cctfs	p.P533fs	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Frame_Shift_Del_p.P533fs|GRM8_ENST00000444921.2_Frame_Shift_Del_p.P533fs			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	533					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)			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)				CCAGCAGCAAGGGACCCCTTT	0.552										HNSCC(24;0.065)																																							0													102.0	99.0	100.0					7																	126173838		2203	4300	6503	SO:0001589	frameshift_variant	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.1598delC	7.37:g.126173838delG	ENSP00000344173:p.Pro533fs		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Frame_Shift_Del	DEL	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.P533fs	ENST00000339582.2	37	c.1598	CCDS5794.1	7																																																																																			GRM8	-	pfam_GPCR_3_9-Cys_dom	ENSG00000179603		0.552	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4		0.00	103	0	G			126173838	-1	tier1		no_errors	ENST00000339582	ensembl	human	known	74_37	frame_shift_del	13.92	136	22	DEL	1.000	-
HRNR	388697	genome.wustl.edu	37	1	152188847	152188847	+	Missense_Mutation	SNP	A	A	G	rs145667921		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:152188847A>G	ENST00000368801.2	-	3	5333	c.5258T>C	c.(5257-5259)gTc>gCc	p.V1753A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1753					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCAAAGACAGAAGAGTG	0.562																																																	0													1.0	1.0	1.0					1																	152188847		388	960	1348	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5258T>C	1.37:g.152188847A>G	ENSP00000357791:p.Val1753Ala		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.V1753A	ENST00000368801.2	37	c.5258	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191978	0.38707	.	.	ENSG00000197915	ENST00000368801	T	0.01548	4.78	3.15	2.19	0.27852	.	.	.	.	.	T	0.00412	0.0013	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	9	0.07482	T	0.82	.	1.9459	0.03356	0.2121:0.4632:0.2061:0.1186	.	1753	Q86YZ3	HORN_HUMAN	A	1753	ENSP00000357791:V1753A	ENSP00000357791:V1753A	V	-	2	0	HRNR	150455471	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.214000	0.09292	0.170000	0.19704	-0.294000	0.09567	GTC	HRNR	-	NULL	ENSG00000197915		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0.00	35	0	A	XM_373868		152188847	-1	tier1	rs145667921	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.002	G
ITGA6	3655	genome.wustl.edu	37	2	173335707	173335707	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:173335707G>T	ENST00000264106.6	+	5	852	c.649G>T	c.(649-651)Gtt>Ttt	p.V217F	ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000409080.1_Missense_Mutation_p.V217F|ITGA6_ENST00000375221.2_Missense_Mutation_p.V217F|ITGA6_ENST00000343713.4_Intron|ITGA6_ENST00000264107.7_Missense_Mutation_p.V217F			P23229	ITA6_HUMAN	integrin, alpha 6	217					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTTAGGGATTGTTCGTGTAGA	0.348																																																	0													78.0	71.0	73.0					2																	173335707		2203	4300	6503	SO:0001583	missense	0				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.649G>T	2.37:g.173335707G>T	ENSP00000264106:p.Val217Phe		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V217F	ENST00000264106.6	37	c.649		2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758366	0.89843	.	.	ENSG00000091409	ENST00000412899;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000409080;ENST00000442250	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83202	0.5203	L	0.60455	1.87	0.80722	D	1	P;P	0.52316	0.952;0.8	P;P	0.58873	0.847;0.718	D	0.84025	0.0356	10	0.72032	D	0.01	.	19.7126	0.96102	0.0:0.0:1.0:0.0	.	217;217	G5E9H1;P23229-2	.;.	F	103;217;217;217;217;217	ENSP00000413470:V103F;ENSP00000264107:V217F;ENSP00000264106:V217F;ENSP00000364369:V217F;ENSP00000386896:V217F;ENSP00000406694:V217F	ENSP00000264106:V217F	V	+	1	0	ITGA6	173043953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.664000	0.90586	0.650000	0.86243	GTT	ITGA6	-	NULL	ENSG00000091409		0.348	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding			0.00	29	0	G			173335707	+1			no_errors	ENST00000264106	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
KIF6	221458	genome.wustl.edu	37	6	39688580	39688580	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr6:39688580G>T	ENST00000287152.7	-	2	168	c.74C>A	c.(73-75)tCc>tAc	p.S25Y	KIF6_ENST00000373216.3_Missense_Mutation_p.S25Y|KIF6_ENST00000538893.1_Missense_Mutation_p.S25Y|KIF6_ENST00000373215.3_Missense_Mutation_p.S25Y	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	25	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTCATCTATGGAATAAATCTG	0.308																																																	0													75.0	79.0	78.0					6																	39688580		2203	4297	6500	SO:0001583	missense	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.74C>A	6.37:g.39688580G>T	ENSP00000287152:p.Ser25Tyr		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S25Y	ENST00000287152.7	37	c.74	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738218	0.69304	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373215;ENST00000538893	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	6.06	6.06	0.98353	Kinesin, motor domain (3);	.	.	.	.	T	0.73257	0.3564	L	0.39898	1.24	0.80722	D	1	D;D;D	0.62365	0.989;0.981;0.991	P;P;P	0.61477	0.772;0.836;0.889	T	0.73898	-0.3837	9	0.59425	D	0.04	.	18.3939	0.90492	0.0:0.0:1.0:0.0	.	25;25;25	E7EUN7;F6VGH2;Q6ZMV9	.;.;KIF6_HUMAN	Y	25	ENSP00000287152:S25Y;ENSP00000362312:S25Y;ENSP00000362311:S25Y;ENSP00000441435:S25Y	ENSP00000287152:S25Y	S	-	2	0	KIF6	39796558	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.370000	0.73114	2.882000	0.98803	0.655000	0.94253	TCC	KIF6	-	superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000164627		0.308	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	-	0.00	38	0	G	NM_145027		39688580	-1	tier1	-	no_errors	ENST00000287152	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
KIRREL	55243	genome.wustl.edu	37	1	158064444	158064444	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:158064444A>G	ENST00000359209.6	+	15	1875	c.1808A>G	c.(1807-1809)aAt>aGt	p.N603S	KIRREL_ENST00000416935.2_Missense_Mutation_p.N503S|KIRREL_ENST00000368173.3_Missense_Mutation_p.N619S|KIRREL_ENST00000368172.1_Missense_Mutation_p.N417S|KIRREL_ENST00000360089.4_Missense_Mutation_p.N439S|KIRREL_ENST00000392272.2_Missense_Mutation_p.N500S			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	603				DTREEYEMKDPTNGY -> ERPRIRGRLNTSYSD (in Ref. 1). {ECO:0000305}.	excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GACCCCACCAATGGCTACTAC	0.622																																																	0													58.0	62.0	61.0					1																	158064444		2201	4297	6498	SO:0001583	missense	0			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1808A>G	1.37:g.158064444A>G	ENSP00000352138:p.Asn603Ser		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.N619S	ENST00000359209.6	37	c.1856	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130409	0.56828	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	4.91	3.79	0.43588	.	0.000000	0.45867	D	0.000321	T	0.55016	0.1894	L	0.57536	1.79	0.50632	D	0.99988	D;P;D;P	0.89917	1.0;0.952;0.993;0.914	D;B;D;B	0.83275	0.996;0.339;0.978;0.197	T	0.57831	-0.7743	10	0.49607	T	0.09	-23.3608	8.0542	0.30596	0.9031:0.0:0.0969:0.0	.	503;439;417;603	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	S	439;619;500;603;503;417	ENSP00000353202:N439S;ENSP00000357155:N619S;ENSP00000376098:N500S;ENSP00000352138:N603S;ENSP00000389674:N503S;ENSP00000357154:N417S	ENSP00000352138:N603S	N	+	2	0	KIRREL	156331068	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	7.121000	0.77160	1.829000	0.53265	0.379000	0.24179	AAT	KIRREL	-	NULL	ENSG00000183853		0.622	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	-	0.00	72	0	A	NM_018240		158064444	+1	tier1	-	no_errors	ENST00000368173	ensembl	human	known	74_37	missense	22.37	59	17	SNP	0.999	G
KIRREL3	84623	genome.wustl.edu	37	11	126306730	126306730	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:126306730C>T	ENST00000525144.2	-	12	1777	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	KIRREL3_ENST00000525704.2_Missense_Mutation_p.E510K|KIRREL3_ENST00000529097.2_Missense_Mutation_p.E510K|KIRREL3_ENST00000416561.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	510	Ig-like C2-type 5.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CGGATGATCTCAGTGTCGGAG	0.612																																																	0													106.0	112.0	110.0					11																	126306730		2192	4296	6488	SO:0001583	missense	0			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1528G>A	11.37:g.126306730C>T	ENSP00000435466:p.Glu510Lys		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E510K	ENST00000525144.2	37	c.1528	CCDS53723.1	11	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009821	0.35415	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.65178	-0.14;-0.14;-0.14	4.29	3.37	0.38596	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.067839	0.64402	N	0.000018	T	0.44265	0.1285	N	0.13140	0.3	0.80722	D	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.004	T	0.33369	-0.9871	10	0.54805	T	0.06	-15.6675	11.5571	0.50755	0.0:0.9104:0.0:0.0896	.	510;510;510	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	K	510	ENSP00000435466:E510K;ENSP00000434081:E510K;ENSP00000435094:E510K	ENSP00000435466:E510K	E	-	1	0	KIRREL3	125811940	1.000000	0.71417	0.746000	0.31095	0.803000	0.45373	7.751000	0.85126	0.793000	0.33875	0.407000	0.27541	GAG	KIRREL3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000149571		0.612	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3	HGNC	protein_coding	OTTHUMT00000386479.2	-	0.00	48	0	C	NM_032531		126306730	-1	tier1	-	no_errors	ENST00000525144	ensembl	human	known	74_37	missense	36.47	54	31	SNP	0.997	T
LAMA3	3909	genome.wustl.edu	37	18	21331028	21331028	+	Missense_Mutation	SNP	G	G	T	rs62093354		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr18:21331028G>T	ENST00000313654.9	+	5	1072	c.831G>T	c.(829-831)caG>caT	p.Q277H	LAMA3_ENST00000399516.3_Missense_Mutation_p.Q277H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	277	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCAAAGCCCAGCGAGATCCAA	0.433																																																	0													98.0	98.0	98.0					18																	21331028		1884	4114	5998	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.831G>T	18.37:g.21331028G>T	ENSP00000324532:p.Gln277His		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Q277H	ENST00000313654.9	37	c.831	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826608	0.71143	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.19250	2.17;2.16	5.41	5.41	0.78517	Laminin, N-terminal (3);	.	.	.	.	T	0.29423	0.0733	L	0.35414	1.06	0.80722	D	1	D;D;P	0.61080	0.989;0.98;0.879	D;P;P	0.63192	0.912;0.88;0.831	T	0.01345	-1.1379	9	0.44086	T	0.13	.	9.264	0.37630	0.1997:0.0:0.8003:0.0	.	277;277;277	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	H	277;277;275;277	ENSP00000324532:Q277H;ENSP00000382432:Q277H	ENSP00000324532:Q277H	Q	+	3	2	LAMA3	19585026	1.000000	0.71417	0.932000	0.37286	0.995000	0.86356	4.335000	0.59298	2.529000	0.85273	0.655000	0.94253	CAG	LAMA3	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000053747		0.433	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3		0.00	58	0	G	NM_000227, NM_198129		21331028	+1			no_errors	ENST00000313654	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
LOC101927016	101927016	genome.wustl.edu	37	13	64320963	64320963	+	Missense_Mutation	SNP	T	T	G	rs531532468		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr13:64320963T>G	ENST00000453638.2	+	1	30	c.30T>G	c.(28-30)tgT>tgG	p.C10W	RP11-473M10.3_ENST00000418943.1_lincRNA																endometrium(2)|lung(1)|urinary_tract(1)	4						GCAACTCCTGtggctatggct	0.512													t|||	1	0.000199681	0.0008	0.0	5008	,	,		17375	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	0																														ENST00000453638.2:c.30T>G	13.37:g.64320963T>G	ENSP00000443634:p.Cys10Trp			Missense_Mutation	SNP	NULL	p.C10W	ENST00000453638.2	37	c.30		13	.	.	.	.	.	.	.	.	.	.	t	7.916	0.737594	0.15574	.	.	ENSG00000226974	ENST00000453638	D	0.87966	-2.32	1.44	1.44	0.22558	.	.	.	.	.	D	0.82678	0.5089	.	.	.	.	.	.	.	.	.	.	.	.	T	0.80027	-0.1554	5	0.37606	T	0.19	.	5.1429	0.14969	0.0:0.0:0.0:1.0	.	.	.	.	W	10	ENSP00000443634:C10W	ENSP00000443634:C10W	C	+	3	2	AL445989.1	63218964	0.013000	0.17824	0.972000	0.41901	0.095000	0.18619	0.582000	0.23834	0.943000	0.37553	0.310000	0.20435	TGT	AL445989.1	-	NULL	ENSG00000226974		0.512	AL445989.1-201	KNOWN	basic|appris_principal	protein_coding	LOC101927016	Clone_based_ensembl_gene	protein_coding		-	0.00	58	0	T			64320963	+1	tier1	-	no_errors	ENST00000453638	ensembl	human	known	74_37	missense	18.09	77	17	SNP	0.979	G
RP11-782C8.1	0	genome.wustl.edu	37	1	143230398	143230398	+	lincRNA	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:143230398G>T	ENST00000438000.1	+	0	147				RP11-782C8.5_ENST00000427309.1_lincRNA																							TCCACACACAGTTCATGCAAA	0.358																																																	0																																												0																															1.37:g.143230398G>T				RNA	SNP	-	NULL	ENST00000438000.1	37	NULL		1																																																																																			RP11-782C8.5	-	-	ENSG00000225278		0.358	RP11-782C8.1-002	KNOWN	basic	lincRNA	LOC101930284	Clone_based_vega_gene	lincRNA	OTTHUMT00000037560.1	-	0.00	64	0	G			143230398	-1	tier1	-	no_errors	ENST00000422716	ensembl	human	known	74_37	rna	10.00	63	7	SNP	0.001	T
LPCAT3	10162	genome.wustl.edu	37	12	7086639	7086639	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr12:7086639T>C	ENST00000261407.4	-	11	1322	c.1237A>G	c.(1237-1239)Att>Gtt	p.I413V	LPCAT3_ENST00000535021.1_5'UTR|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	413					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AGGACAGTAATGGCGGCCAGC	0.552																																																	0													56.0	56.0	56.0					12																	7086639		2203	4300	6503	SO:0001583	missense	0			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1237A>G	12.37:g.7086639T>C	ENSP00000261407:p.Ile413Val		B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	pfam_MBOAT_fam	p.I413V	ENST00000261407.4	37	c.1237	CCDS8572.1	12	.	.	.	.	.	.	.	.	.	.	T	2.361	-0.346500	0.05208	.	.	ENSG00000111684	ENST00000261407	T	0.72615	-0.67	4.77	1.09	0.20402	.	0.425372	0.25475	N	0.030403	T	0.58878	0.2153	L	0.54323	1.7	0.37431	D	0.914027	B	0.02656	0.0	B	0.06405	0.002	T	0.49908	-0.8889	10	0.15952	T	0.53	-16.9088	8.7421	0.34564	0.0:0.2146:0.0:0.7854	.	413	Q6P1A2	MBOA5_HUMAN	V	413	ENSP00000261407:I413V	ENSP00000261407:I413V	I	-	1	0	LPCAT3	6956900	1.000000	0.71417	0.277000	0.24703	0.269000	0.26545	1.336000	0.33850	0.035000	0.15519	0.459000	0.35465	ATT	LPCAT3	-	pfam_MBOAT_fam	ENSG00000111684		0.552	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT3	HGNC	protein_coding	OTTHUMT00000401812.1	-	0.00	40	0	T	NM_005768		7086639	-1	tier1	-	no_errors	ENST00000261407	ensembl	human	known	74_37	missense	26.79	41	15	SNP	0.957	C
LRPPRC	10128	genome.wustl.edu	37	2	44128499	44128499	+	Missense_Mutation	SNP	T	T	C	rs564191181		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:44128499T>C	ENST00000260665.7	-	32	3586	c.3529A>G	c.(3529-3531)Atg>Gtg	p.M1177V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1177	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATGAAAACCATTTTTGAAAGT	0.398																																																	0													123.0	119.0	121.0					2																	44128499		2203	4300	6503	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3529A>G	2.37:g.44128499T>C	ENSP00000260665:p.Met1177Val		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.M1177V	ENST00000260665.7	37	c.3529	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	T	13.23	2.174624	0.38413	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.11821	2.74	6.17	6.17	0.99709	.	0.084727	0.85682	D	0.000000	T	0.27349	0.0671	M	0.77616	2.38	0.80722	D	1	D;P	0.61080	0.989;0.951	P;P	0.53954	0.738;0.525	T	0.11372	-1.0590	10	0.13108	T	0.6	-12.1814	12.4599	0.55727	0.1321:0.0:0.0:0.8679	.	1077;1177	F5H4J6;P42704	.;LPPRC_HUMAN	V	1077;1177	ENSP00000260665:M1177V	ENSP00000260665:M1177V	M	-	1	0	LRPPRC	43982003	0.999000	0.42202	0.940000	0.37924	0.262000	0.26303	3.611000	0.54132	2.371000	0.80710	0.533000	0.62120	ATG	LRPPRC	-	NULL	ENSG00000138095		0.398	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	-	0.00	61	0	T	NM_133259		44128499	-1	tier1	-	no_errors	ENST00000260665	ensembl	human	known	74_37	missense	20.00	72	18	SNP	0.969	C
MAGEA9B	728269	genome.wustl.edu	37	X	148664813	148664813	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chrX:148664813G>A	ENST00000243314.5	-	4	309	c.23C>T	c.(22-24)cCg>cTg	p.P8L		NM_001080790.1	NP_001074259.1	P43362	MAGA9_HUMAN	melanoma antigen family A, 9B	8																	CTTGCAGTGCGGACTCCTCTG	0.622																																																	0													5.0	7.0	6.0					X																	148664813		1166	2410	3576	SO:0001583	missense	0				CCDS35423.1	Xp11	2014-05-06			ENSG00000123584	ENSG00000123584			31909	protein-coding gene	gene with protein product		300764					Standard	NM_001080790		Approved		uc004fdk.3	P43362	OTTHUMG00000188533	ENST00000243314.5:c.23C>T	X.37:g.148664813G>A	ENSP00000243314:p.Pro8Leu		A8K8A7|Q7Z5K4|Q92910	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P8L	ENST00000243314.5	37	c.23	CCDS35423.1	X	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606977	0.28623	.	.	ENSG00000123584	ENST00000243314	T	0.04194	3.68	2.15	-4.29	0.03721	Melanoma associated antigen, MAGE, N-terminal (1);	5.656380	0.00166	N	0.000004	T	0.02418	0.0074	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41342	-0.9514	10	0.33141	T	0.24	.	4.4939	0.11828	0.0:0.1392:0.3558:0.505	.	8	P43362	MAGA9_HUMAN	L	8	ENSP00000243314:P8L	ENSP00000243314:P8L	P	-	2	0	MAGEA9B	148472609	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.013000	0.01450	-1.237000	0.02539	-2.173000	0.00322	CCG	MAGEA9B	-	pfam_Melanoma_ass_antigen_N	ENSG00000123584		0.622	MAGEA9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA9B	HGNC	protein_coding	OTTHUMT00000058697.4	-	0.00	67	0	G	NM_001080790		148664813	-1	tier1	-	no_errors	ENST00000243314	ensembl	human	known	74_37	missense	14.18	115	19	SNP	0.000	A
MAP3K1	4214	genome.wustl.edu	37	5	56180554	56180554	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr5:56180554delA	ENST00000399503.3	+	16	3883	c.3883delA	c.(3883-3885)atafs	p.I1295fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAGAGAAGAGATAAGAATGAT	0.388																																																	0													109.0	102.0	104.0					5																	56180554		1910	4120	6030	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3883delA	5.37:g.56180554delA	ENSP00000382423:p.Ile1295fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.I1295fs	ENST00000399503.3	37	c.3883	CCDS43318.1	5																																																																																			MAP3K1	-	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	ENSG00000095015		0.388	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2		0.00	31	0	A	XM_042066		56180554	+1	tier1		no_errors	ENST00000399503	ensembl	human	novel	74_37	frame_shift_del	21.74	36	10	DEL	1.000	-
MAP3K4	4216	genome.wustl.edu	37	6	161470625	161470625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr6:161470625G>T	ENST00000392142.4	+	3	1469	c.1321G>T	c.(1321-1323)Gag>Tag	p.E441*	MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.E441*|MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.E441*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.E441*	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	441					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TAATGAGCCGGAGTATGAGGG	0.448																																																	0													85.0	83.0	84.0					6																	161470625		2203	4300	6503	SO:0001587	stop_gained	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1321G>T	6.37:g.161470625G>T	ENSP00000375986:p.Glu441*		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Nonsense_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.E441*	ENST00000392142.4	37	c.1321	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.388452	0.98252	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	.	.	.	5.82	4.95	0.65309	.	0.265311	0.32106	N	0.006570	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-15.7627	14.7733	0.69696	0.0692:0.0:0.9308:0.0	.	.	.	.	X	441	.	ENSP00000297332:E441X	E	+	1	0	MAP3K4	161390615	1.000000	0.71417	0.008000	0.14137	0.973000	0.67179	9.195000	0.94971	1.453000	0.47775	0.650000	0.86243	GAG	MAP3K4	-	NULL	ENSG00000085511		0.448	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	-	0.00	74	0	G			161470625	+1	tier1	-	no_errors	ENST00000392142	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	0.870	T
MAP9	79884	genome.wustl.edu	37	4	156274406	156274406	+	Silent	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr4:156274406G>T	ENST00000311277.4	-	11	1730	c.1467C>A	c.(1465-1467)gcC>gcA	p.A489A	AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000417474.1_RNA|MAP9_ENST00000515654.1_Silent_p.A465A	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	489					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GCCTCTTTTTGGCAGCTATTT	0.358																																																	0													98.0	94.0	95.0					4																	156274406		2203	4297	6500	SO:0001819	synonymous_variant	0			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1467C>A	4.37:g.156274406G>T			Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Silent	SNP	NULL	p.A489	ENST00000311277.4	37	c.1467	CCDS35493.1	4																																																																																			MAP9	-	NULL	ENSG00000164114		0.358	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	-	0.00	43	0	G	NM_001039580		156274406	-1	tier1	-	no_errors	ENST00000311277	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.038	T
MDGA2	161357	genome.wustl.edu	37	14	47342646	47342646	+	Silent	SNP	T	T	C			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr14:47342646T>C	ENST00000399232.2	-	14	2899	c.2535A>G	c.(2533-2535)ggA>ggG	p.G845G	MDGA2_ENST00000357362.3_Silent_p.G616G|MDGA2_ENST00000439988.3_Silent_p.G914G|MDGA2_ENST00000426342.1_Silent_p.G616G|MDGA2_ENST00000399222.3_Silent_p.G47G	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	845	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTATATGTTGTCCATACATGT	0.348																																																	0													112.0	107.0	108.0					14																	47342646		1839	4082	5921	SO:0001819	synonymous_variant	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2535A>G	14.37:g.47342646T>C			F6W3S7|J3KPX6	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.G914	ENST00000399232.2	37	c.2742		14																																																																																			MDGA2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000272781		0.348	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0.00	70	0	T	NM_182830		47342646	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	silent	17.35	81	17	SNP	1.000	C
MOCOS	55034	genome.wustl.edu	37	18	33836814	33836815	+	3'UTR	INS	-	-	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr18:33836814_33836815insT	ENST00000588132.1	+	0	5_6				MOCOS_ENST00000261326.5_Intron					molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAGGACATCACTTTTTTTCCCT	0.332																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000588132.1:c.*3->T	18.37:g.33836821_33836821dupT				RNA	INS	-	NULL	ENST00000588132.1	37	NULL		18																																																																																			MOCOS	-	-	ENSG00000075643		0.332	MOCOS-002	KNOWN	basic	processed_transcript	MOCOS	HGNC	protein_coding	OTTHUMT00000444104.1		0.00	13	0	-			33836815	+1	tier1		no_errors	ENST00000588132	ensembl	human	known	74_37	rna	47.06	9	8	INS	0.000:0.000	T
MUC5B	727897	genome.wustl.edu	37	11	1271669	1271669	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:1271669C>A	ENST00000529681.1	+	31	13617	c.13559C>A	c.(13558-13560)aCc>aAc	p.T4520N	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4523N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4520	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCACAGCTACCAGCTTTACA	0.627																																																	0													82.0	121.0	108.0					11																	1271669		2124	4211	6335	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13559C>A	11.37:g.1271669C>A	ENSP00000436812:p.Thr4520Asn		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T4523N	ENST00000529681.1	37	c.13568	CCDS44515.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	3.414|3.414	-0.119587|-0.119587	0.06838|0.06838	.|.	.|.	ENSG00000117983|ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844|ENST00000535652	T;T|.	0.19394|.	2.15;2.34|.	2.12|2.12	1.16|1.16	0.20824|0.20824	.|.	.|.	.|.	.|.	.|.	T|.	0.42585|.	0.1209|.	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	P;P|.	0.48407|.	0.91;0.91|.	B;P|.	0.47786|.	0.334;0.557|.	T|.	0.40664|.	-0.9551|.	9|.	0.87932|0.87932	D|D	0|0	.|.	4.84|4.84	0.13485|0.13485	0.0:0.6478:0.0:0.3522|0.0:0.6478:0.0:0.3522	.|.	4993;4523|.	A7Y9J9;E9PBJ0|.	.;.|.	N|X	4520;4523;4464;4370|298	ENSP00000436812:T4520N;ENSP00000415793:T4523N|.	ENSP00000343037:T4464N|ENSP00000439776:Y298X	T|Y	+|+	2|3	0|2	MUC5B|MUC5B	1228245|1228245	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.038000|0.038000	0.13279|0.13279	0.040000|0.040000	0.13905|0.13905	0.202000|0.202000	0.20498|0.20498	0.184000|0.184000	0.17185|0.17185	ACC|TAC	MUC5B	-	NULL	ENSG00000117983		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0.00	129	0	C	XM_001126093		1271669	+1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	31.72	99	46	SNP	0.003	A
MXI1	4601	genome.wustl.edu	37	10	112038963	112038963	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr10:112038963G>A	ENST00000239007.7	+	4	480	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	MXI1_ENST00000361248.4_Missense_Mutation_p.E42K|MXI1_ENST00000332674.5_Missense_Mutation_p.E155K|MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000393134.1_Missense_Mutation_p.E78K|MXI1_ENST00000369612.1_Missense_Mutation_p.E52K	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	88	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CCTTTGTTTAGAACGCTTAAA	0.393																																																	0													141.0	131.0	134.0					10																	112038963		2203	4300	6503	SO:0001583	missense	0			BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.262G>A	10.37:g.112038963G>A	ENSP00000239007:p.Glu88Lys		B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.E155K	ENST00000239007.7	37	c.463	CCDS7564.2	10	.	.	.	.	.	.	.	.	.	.	G	34	5.389299	0.95988	.	.	ENSG00000119950	ENST00000332674;ENST00000453116;ENST00000361248;ENST00000239007;ENST00000369619;ENST00000393134;ENST00000369614;ENST00000369613;ENST00000442296;ENST00000369612	D;D;D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73	5.65	5.65	0.86999	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99007	0.9661	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	D;D;D;D	0.83275	0.992;0.991;0.996;0.994	D	0.99589	1.0975	10	0.87932	D	0	-22.6379	19.7215	0.96144	0.0:0.0:1.0:0.0	.	78;52;88;155	B1ANN8;P50539-2;P50539;P50539-3	.;.;MXI1_HUMAN;.	K	155;145;42;88;78;78;52;52;52;52	ENSP00000331152:E155K;ENSP00000398981:E145K;ENSP00000354606:E42K;ENSP00000239007:E88K;ENSP00000376842:E78K;ENSP00000407711:E52K;ENSP00000358625:E52K	ENSP00000239007:E88K	E	+	1	0	MXI1	112028953	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.828000	0.99408	2.672000	0.90937	0.591000	0.81541	GAA	MXI1	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000119950		0.393	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	MXI1	HGNC	protein_coding	OTTHUMT00000050316.1	-	0.00	86	0	G	NM_130439		112038963	+1	tier1	-	no_errors	ENST00000332674	ensembl	human	known	74_37	missense	20.00	68	17	SNP	1.000	A
MYRF	745	genome.wustl.edu	37	11	61537890	61537893	+	Frame_Shift_Del	DEL	CCCG	CCCG	-			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	CCCG	CCCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:61537890_61537893delCCCG	ENST00000278836.5	+	5	729_732	c.633_636delCCCG	c.(631-636)cccccgfs	p.PP211fs	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Del_p.PP202fs	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	211	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGCCGAGCCCCCGATCCCCCACT	0.686																																																	0																																										SO:0001589	frameshift_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.633_636delCCCG	11.37:g.61537890_61537893delCCCG	ENSP00000278836:p.Pro211fs		O43582|Q9P1Q6	Frame_Shift_Del	DEL	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.P212fs	ENST00000278836.5	37	c.633_636	CCDS44622.1	11																																																																																			MYRF	-	NULL	ENSG00000124920		0.686	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2		0.00	39	0	CCCG	NM_013279		61537893	+1	tier1		no_errors	ENST00000278836	ensembl	human	known	74_37	frame_shift_del	30.00	28	12	DEL	0.999:0.999:0.988:0.044	-
MYRF	745	genome.wustl.edu	37	11	61537912	61537912	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:61537912A>T	ENST00000278836.5	+	5	751	c.655A>T	c.(655-657)Atg>Ttg	p.M219L	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.M210L	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	219	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTACGCTGCCATGGGGCAGGG	0.672																																																	0													12.0	12.0	12.0					11																	61537912		2180	4267	6447	SO:0001583	missense	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.655A>T	11.37:g.61537912A>T	ENSP00000278836:p.Met219Leu		O43582|Q9P1Q6	Missense_Mutation	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.M219L	ENST00000278836.5	37	c.655	CCDS44622.1	11	.	.	.	.	.	.	.	.	.	.	A	4.832	0.154687	0.09236	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.27557	1.66;1.67	4.35	3.19	0.36642	.	0.169112	0.50627	D	0.000101	T	0.12008	0.0292	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10177	-1.0641	10	0.10636	T	0.68	-24.181	5.4744	0.16688	0.6938:0.1462:0.16:0.0	.	210;219	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	L	219;210	ENSP00000278836:M219L;ENSP00000265460:M210L	ENSP00000265460:M210L	M	+	1	0	C11orf9	61294488	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.363000	0.44178	0.803000	0.34113	0.402000	0.26972	ATG	MYRF	-	NULL	ENSG00000124920		0.672	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2	-	0.00	56	0	A	NM_013279		61537912	+1	tier1	-	no_errors	ENST00000278836	ensembl	human	known	74_37	missense	34.55	36	19	SNP	1.000	T
NASP	4678	genome.wustl.edu	37	1	46073323	46073323	+	Missense_Mutation	SNP	G	G	A	rs201683842		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:46073323G>A	ENST00000350030.3	+	6	827	c.740G>A	c.(739-741)gGa>gAa	p.G247E	NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.G183E|NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.G249E	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	247	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)	p.G249E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TCAGTTTCTGGAACTGATGTC	0.473																																																	1	Substitution - Missense(1)	lung(1)											43.0	46.0	45.0					1																	46073323		2203	4300	6503	SO:0001583	missense	0			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.740G>A	1.37:g.46073323G>A	ENSP00000255120:p.Gly247Glu		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G249E	ENST00000350030.3	37	c.746	CCDS524.1	1	.	.	.	.	.	.	.	.	.	.	G	0.121	-1.126170	0.01770	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69	5.19	-1.08	0.09936	.	0.955842	0.08790	N	0.893395	D	0.86657	0.5985	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.10296	0.001;0.001;0.003;0.001;0.001	B;B;B;B;B	0.09377	0.002;0.002;0.004;0.001;0.003	T	0.73990	-0.3808	9	.	.	.	-2.703	1.0065	0.01488	0.3429:0.1482:0.3567:0.1523	.	183;247;147;247;249	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	E	183;249;147;247;210	ENSP00000438871:G183E;ENSP00000384529:G249E;ENSP00000255120:G247E;ENSP00000436924:G210E	.	G	+	2	0	NASP	45845910	0.026000	0.19158	0.163000	0.22734	0.251000	0.25915	0.266000	0.18534	-0.078000	0.12730	-0.157000	0.13467	GGA	NASP	-	NULL	ENSG00000132780		0.473	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2		0.00	27	0	G	NM_002482		46073323	+1			no_errors	ENST00000402363	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.008	A
NBN	4683	genome.wustl.edu	37	8	90993677	90993677	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:90993677T>A	ENST00000265433.3	-	3	400	c.246A>T	c.(244-246)aaA>aaT	p.K82N	NBN_ENST00000409330.1_5'UTR	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	82	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CATTCTGCATTTTTTCCTCAT	0.313								Homologous recombination																																									0													97.0	110.0	105.0					8																	90993677		2203	4300	6503	SO:0001583	missense	0			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.246A>T	8.37:g.90993677T>A	ENSP00000265433:p.Lys82Asn		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	p.K82N	ENST00000265433.3	37	c.246	CCDS6249.1	8	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001610	0.74818	.	.	ENSG00000104320	ENST00000265433;ENST00000452387;ENST00000519426	D;D	0.88124	-2.34;-2.34	5.82	4.67	0.58626	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.155915	0.56097	D	0.000036	D	0.91998	0.7465	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.91485	0.5207	10	0.87932	D	0	-31.7627	8.0839	0.30760	0.0:0.2152:0.0:0.7848	.	82;82	A6H8Y5;O60934	.;NBN_HUMAN	N	82	ENSP00000265433:K82N;ENSP00000430983:K82N	ENSP00000265433:K82N	K	-	3	2	NBN	91062853	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.440000	0.35024	1.034000	0.39945	0.383000	0.25322	AAA	NBN	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	ENSG00000104320		0.313	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBN	HGNC	protein_coding	OTTHUMT00000331583.3	-	0.00	61	0	T	NM_001024688		90993677	-1	tier1	-	no_errors	ENST00000265433	ensembl	human	known	74_37	missense	30.36	78	34	SNP	1.000	A
NKPD1	284353	genome.wustl.edu	37	19	45656064	45656064	+	Missense_Mutation	SNP	G	G	A	rs373185063		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr19:45656064G>A	ENST00000438936.2	-	3	1176	c.965C>T	c.(964-966)gCg>gTg	p.A322V	NKPD1_ENST00000429338.1_Missense_Mutation_p.A322V|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000317951.4_Missense_Mutation_p.A544V|NKPD1_ENST00000589776.1_Missense_Mutation_p.A322V			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	322	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GCTCTGCACCGCATCGTGCAG	0.677																																																	0													11.0	12.0	11.0					19																	45656064		2075	4190	6265	SO:0001583	missense	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.965C>T	19.37:g.45656064G>A	ENSP00000401739:p.Ala322Val		B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	pfam_KAP_NTPase	p.A544V	ENST00000438936.2	37	c.1631		19	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548970	0.45383	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.34859	1.34;1.34;1.34	5.3	5.3	0.74995	KAP P-loop (1);	0.195990	0.44902	D	0.000403	T	0.31734	0.0806	L	0.39633	1.23	0.34393	D	0.694409	P	0.48640	0.913	B	0.41466	0.358	T	0.39742	-0.9599	10	0.22706	T	0.39	-29.3235	16.4297	0.83837	0.0:0.0:1.0:0.0	.	322	Q17RQ9	NKPD1_HUMAN	V	544;322;322	ENSP00000321976:A544V;ENSP00000401739:A322V;ENSP00000404706:A322V	ENSP00000321976:A544V	A	-	2	0	NKPD1	50347904	0.997000	0.39634	0.996000	0.52242	0.897000	0.52465	4.237000	0.58681	2.476000	0.83614	0.462000	0.41574	GCG	NKPD1	-	pfam_KAP_NTPase	ENSG00000179846		0.677	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	-	0.00	67	0	G	NM_198478		45656064	-1	tier1	-	no_errors	ENST00000317951	ensembl	human	known	74_37	missense	59.42	56	82	SNP	0.992	A
MPG	4350	genome.wustl.edu	37	16	136635	136635	+	IGR	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr16:136635G>A	ENST00000219431.4	+	0	1193				NPRL3_ENST00000399951.3_3'UTR|NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399953.3_3'UTR	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				AGCACGGGGGGAGCCCTGGGG	0.711								Base excision repair (BER), DNA glycosylases																																									0																																										SO:0001628	intergenic_variant	0				CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887		16.37:g.136635G>A			G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	RNA	SNP	-	NULL	ENST00000219431.4	37	NULL	CCDS32346.1	16																																																																																			NPRL3	-	-	ENSG00000103148		0.711	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPRL3	HGNC	protein_coding	OTTHUMT00000109121.4	-	0.00	19	0	G			136635	-1	tier1	-	no_errors	ENST00000405960	ensembl	human	known	74_37	rna	16.67	30	6	SNP	0.000	A
NXF3	56000	genome.wustl.edu	37	X	102347947	102347947	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chrX:102347947G>T	ENST00000395065.3	-	1	106	c.5C>A	c.(4-6)tCa>tAa	p.S2*	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	2					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGAAGGCAGTGACATTTTACC	0.562																																																	0													159.0	130.0	140.0					X																	102347947		2203	4300	6503	SO:0001587	stop_gained	0			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.5C>A	X.37:g.102347947G>T	ENSP00000378504:p.Ser2*		B4DYS7|Q5H9I1|Q9H1A9	Nonsense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.S2*	ENST00000395065.3	37	c.5	CCDS14503.1	X	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189219	0.57909	.	.	ENSG00000147206	ENST00000395065	.	.	.	2.94	-1.05	0.10036	.	3.167900	0.01386	U	0.013113	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3346	0.04244	0.2833:0.0:0.3163:0.4003	.	.	.	.	X	2	.	ENSP00000378504:S2X	S	-	2	0	NXF3	102234603	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.231000	0.09069	-0.411000	0.07530	0.600000	0.82982	TCA	NXF3	-	NULL	ENSG00000147206		0.562	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF3	HGNC	protein_coding	OTTHUMT00000057684.1	-	0.00	34	0	G	NM_022052		102347947	-1	tier1	-	no_errors	ENST00000395065	ensembl	human	known	74_37	nonsense	64.37	31	56	SNP	0.000	T
OR3A2	4995	genome.wustl.edu	37	17	3182035	3182035	+	Silent	SNP	G	G	A	rs529347635	byFrequency	TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr17:3182035G>A	ENST00000408891.2	-	1	233	c.195C>T	c.(193-195)caC>caT	p.H65H	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	65					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						ACATGGGGGCGTGGAGTTTGG	0.552													G|||	4	0.000798722	0.0	0.0	5008	,	,		20110	0.0		0.0	False		,,,				2504	0.0041				GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)												0													4.0	5.0	5.0					17																	3182035		1755	3670	5425	SO:0001819	synonymous_variant	0			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.195C>T	17.37:g.3182035G>A			Q6IFM3|Q9P1Q3	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H65	ENST00000408891.2	37	c.195	CCDS42233.1	17																																																																																			OR3A2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221882		0.552	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A2	HGNC	protein_coding	OTTHUMT00000438370.1	-	0.00	17	0	G			3182035	-1	tier1	-	no_errors	ENST00000408891	ensembl	human	known	74_37	silent	50.00	7	7	SNP	0.858	A
PARM1	25849	genome.wustl.edu	37	4	75937793	75937793	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr4:75937793G>A	ENST00000307428.7	+	2	414	c.202G>A	c.(202-204)Gtt>Att	p.V68I	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	68					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						GGTGCTCCCAGTTACAGCATC	0.517																																																	0													146.0	141.0	143.0					4																	75937793		2107	4228	6335	SO:0001583	missense	0			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.202G>A	4.37:g.75937793G>A	ENSP00000370224:p.Val68Ile		B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	NULL	p.V68I	ENST00000307428.7	37	c.202	CCDS47077.1	4	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660494	0.29515	.	.	ENSG00000169116	ENST00000307428	T	0.74947	-0.89	5.34	1.9	0.25705	.	0.953926	0.08694	N	0.907521	T	0.60248	0.2254	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.45323	-0.9269	10	0.34782	T	0.22	-3.0E-4	6.9595	0.24590	0.3669:0.0:0.6331:0.0	.	68	Q6UWI2	PARM1_HUMAN	I	68	ENSP00000370224:V68I	ENSP00000370224:V68I	V	+	1	0	PARM1	76156817	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.552000	0.23376	0.041000	0.15688	0.563000	0.77884	GTT	PARM1	-	NULL	ENSG00000169116		0.517	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARM1	HGNC	protein_coding	OTTHUMT00000362494.1	-	0.00	46	0	G	NM_015393		75937793	+1	tier1	-	no_errors	ENST00000307428	ensembl	human	known	74_37	missense	49.32	37	36	SNP	0.000	A
PCSK9	255738	genome.wustl.edu	37	1	55512211	55512211	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:55512211C>T	ENST00000302118.5	+	3	705	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.H139Y	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	139					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GAAGTTGCCCCATGTCGACTA	0.582																																					Pancreas(137;1454 1827 5886 22361 42375)												0													96.0	97.0	96.0					1																	55512211		2203	4300	6503	SO:0001583	missense	0			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.415C>T	1.37:g.55512211C>T	ENSP00000303208:p.His139Tyr		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.H139Y	ENST00000302118.5	37	c.415	CCDS603.1	1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.301916	0.60195	.	.	ENSG00000169174	ENST00000302118;ENST00000452118	T;T	0.72051	-0.62;-0.62	4.62	4.62	0.57501	Proteinase inhibitor, propeptide (1);Proteinase inhibitor I9, subtilisin propeptide (1);	0.140405	0.47093	D	0.000249	T	0.76399	0.3982	L	0.57536	1.79	0.80722	D	1	P	0.49696	0.927	P	0.52109	0.69	T	0.78760	-0.2078	10	0.51188	T	0.08	-0.2283	17.0464	0.86504	0.0:1.0:0.0:0.0	.	139	Q8NBP7	PCSK9_HUMAN	Y	139	ENSP00000303208:H139Y;ENSP00000401598:H139Y	ENSP00000303208:H139Y	H	+	1	0	PCSK9	55284799	1.000000	0.71417	0.525000	0.27900	0.389000	0.30415	4.672000	0.61597	2.072000	0.62099	0.561000	0.74099	CAT	PCSK9	-	pfam_Inhibitor_I9,superfamily_Prot_inh_propept	ENSG00000169174		0.582	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK9	HGNC	protein_coding	OTTHUMT00000022280.1	-	0.00	55	0	C	NM_174936		55512211	+1	tier1	-	no_errors	ENST00000302118	ensembl	human	known	74_37	missense	56.92	28	37	SNP	0.998	T
PELI2	57161	genome.wustl.edu	37	14	56645145	56645145	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr14:56645145G>T	ENST00000267460.4	+	2	456	c.170G>T	c.(169-171)aGc>aTc	p.S57I		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	57	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GTCAAACCCAGCACCGTCCAT	0.517																																																	0													119.0	109.0	113.0					14																	56645145		2203	4300	6503	SO:0001583	missense	0			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.170G>T	14.37:g.56645145G>T	ENSP00000267460:p.Ser57Ile		B2RDY5	Missense_Mutation	SNP	pfam_Pellino_fam	p.S57I	ENST00000267460.4	37	c.170	CCDS9726.1	14	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401632	0.62288	.	.	ENSG00000139946	ENST00000267460	T	0.51574	0.7	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	M	0.82323	2.585	0.54753	D	0.999981	D	0.53462	0.96	P	0.59424	0.857	T	0.68176	-0.5478	10	0.39692	T	0.17	-41.1626	19.1026	0.93279	0.0:0.0:1.0:0.0	.	57	Q9HAT8	PELI2_HUMAN	I	57	ENSP00000267460:S57I	ENSP00000267460:S57I	S	+	2	0	PELI2	55714898	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	7.749000	0.85096	2.803000	0.96430	0.650000	0.86243	AGC	PELI2	-	pfam_Pellino_fam	ENSG00000139946		0.517	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI2	HGNC	protein_coding	OTTHUMT00000276925.1	-	0.00	110	0	G			56645145	+1	tier1	-	no_errors	ENST00000267460	ensembl	human	known	74_37	missense	22.38	111	32	SNP	1.000	T
PEX5L	51555	genome.wustl.edu	37	3	179592166	179592166	+	Silent	SNP	G	G	A	rs139208096		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr3:179592166G>A	ENST00000467460.1	-	7	1005	c.675C>T	c.(673-675)agC>agT	p.S225S	PEX5L_ENST00000464614.1_Silent_p.S117S|PEX5L_ENST00000465751.1_Silent_p.S201S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000263962.8_Silent_p.S223S|PEX5L_ENST00000468741.1_Silent_p.S33S|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000392649.3_Silent_p.S117S|PEX5L_ENST00000476138.1_Silent_p.S182S|PEX5L_ENST00000485199.1_Silent_p.S190S|PEX5L_ENST00000472994.1_Silent_p.S166S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	225					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AGTTGAGGGCGCTTTTTCCAC	0.393																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	121.0	117.0	118.0		675	-5.4	1.0	3	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	PEX5L	NM_016559.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		225/627	179592166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.675C>T	3.37:g.179592166G>A			B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S225	ENST00000467460.1	37	c.675	CCDS3236.1	3																																																																																			PEX5L	-	NULL	ENSG00000114757		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	-	0.00	86	0	G	NM_016559		179592166	-1	tier1	rs139208096	no_errors	ENST00000467460	ensembl	human	known	74_37	silent	16.16	83	16	SNP	0.812	A
JADE2	23338	genome.wustl.edu	37	5	133895550	133895550	+	Silent	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr5:133895550C>T	ENST00000402835.1	+	5	597	c.342C>T	c.(340-342)gcC>gcT	p.A114A	PHF15_ENST00000395003.1_Silent_p.A114A|PHF15_ENST00000361895.2_Silent_p.A114A|PHF15_ENST00000282605.4_Silent_p.A114A																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCCCCTGCCCAGGCATCCC	0.632																																																	0													43.0	42.0	42.0					5																	133895550		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000402835.1:c.342C>T	5.37:g.133895550C>T				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A114	ENST00000402835.1	37	c.342		5																																																																																			PHF15	-	pfam_Enhancer_polycomb-like_N	ENSG00000043143		0.632	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	-	0.00	52	0	C			133895550	+1	tier1	-	no_errors	ENST00000395003	ensembl	human	known	74_37	silent	14.74	81	14	SNP	0.012	T
PIKFYVE	200576	genome.wustl.edu	37	2	209198070	209198070	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:209198070C>T	ENST00000264380.4	+	24	4153	c.3995C>T	c.(3994-3996)tCc>tTc	p.S1332F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1332					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCCAATGAGTCCTGGTCTATG	0.393																																																	0													145.0	135.0	139.0					2																	209198070		2203	4300	6503	SO:0001583	missense	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3995C>T	2.37:g.209198070C>T	ENSP00000264380:p.Ser1332Phe		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.S1332F	ENST00000264380.4	37	c.3995	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657879	0.88154	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.42131	0.98;0.98	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.78314	0.991;0.982	T	0.66064	-0.6016	10	0.87932	D	0	-10.5754	18.5277	0.90978	0.0:1.0:0.0:0.0	.	1332;1276	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	F	1332;908;1276	ENSP00000264380:S1332F;ENSP00000405736:S1276F	ENSP00000264380:S1332F	S	+	2	0	PIKFYVE	208906315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.387000	0.81309	0.555000	0.69702	TCC	PIKFYVE	-	NULL	ENSG00000115020		0.393	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	-	0.00	63	0	C	NM_015040		209198070	+1	tier1	-	no_errors	ENST00000264380	ensembl	human	known	74_37	missense	17.65	70	15	SNP	1.000	T
PID1	55022	genome.wustl.edu	37	2	229890645	229890645	+	Silent	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:229890645C>T	ENST00000354069.6	-	3	486	c.456G>A	c.(454-456)ggG>ggA	p.G152G	PID1_ENST00000409462.1_Silent_p.G70G|PID1_ENST00000482518.2_Intron|PID1_ENST00000392054.3_Silent_p.G150G|PID1_ENST00000392055.3_Silent_p.G119G			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	152	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CTGTGGCCTCCCCTTTGTGGT	0.597																																																	0													116.0	111.0	113.0					2																	229890645		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.456G>A	2.37:g.229890645C>T			B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.G152	ENST00000354069.6	37	c.456		2																																																																																			PID1	-	smart_PTB/PI_dom	ENSG00000153823		0.597	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	-	0.00	109	0	C	NM_017933		229890645	-1	tier1	-	no_errors	ENST00000354069	ensembl	human	known	74_37	silent	14.19	133	22	SNP	0.073	T
PKD1L1	168507	genome.wustl.edu	37	7	47851429	47851429	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr7:47851429G>A	ENST00000289672.2	-	50	7617	c.7567C>T	c.(7567-7569)Ctc>Ttc	p.L2523F	PKD1L1_ENST00000462350.1_5'Flank|C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2523					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAAGCATGAGGTGGTACTGC	0.617																																																	0													39.0	31.0	33.0					7																	47851429		2203	4300	6503	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7567C>T	7.37:g.47851429G>A	ENSP00000289672:p.Leu2523Phe		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.L2523F	ENST00000289672.2	37	c.7567	CCDS34633.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.82|10.82	1.457571|1.457571	0.26161|0.26161	.|.	.|.	ENSG00000158683|ENSG00000158683	ENST00000289672|ENST00000433506	T|.	0.72394|.	-0.65|.	5.3|5.3	-0.252|-0.252	0.12999|0.12999	Polycystin cation channel, PKD1/PKD2 (1);|.	1.559650|.	0.04342|.	N|.	0.354294|.	T|T	0.26268|0.26268	0.0641|0.0641	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	D|.	0.60160|.	0.987|.	P|.	0.55508|.	0.777|.	T|T	0.27157|0.27157	-1.0082|-1.0082	10|5	0.59425|.	D|.	0.04|.	-10.1303|-10.1303	3.796|3.796	0.08740|0.08740	0.0861:0.1228:0.2656:0.5255|0.0861:0.1228:0.2656:0.5255	.|.	2523|.	Q8TDX9|.	PK1L1_HUMAN|.	F|L	2523|113	ENSP00000289672:L2523F|.	ENSP00000289672:L2523F|.	L|P	-|-	1|2	0|0	PKD1L1|PKD1L1	47817954|47817954	0.009000|0.009000	0.17119|0.17119	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.921000|0.921000	0.28718|0.28718	0.214000|0.214000	0.20742|0.20742	-0.380000|-0.380000	0.06706|0.06706	CTC|CCT	PKD1L1	-	pfam_PKD1_2_channel	ENSG00000158683		0.617	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	-	0.00	52	0	G	NM_138295		47851429	-1	tier1	-	no_errors	ENST00000289672	ensembl	human	known	74_37	missense	16.92	54	11	SNP	0.000	A
PLEKHA3	65977	genome.wustl.edu	37	2	179346638	179346638	+	Intron	SNP	A	A	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:179346638A>G	ENST00000234453.5	+	1	442				PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TGCCAAAAGTATCACATCCCT	0.428																																																	0													110.0	92.0	98.0					2																	179346638		692	1591	2283	SO:0001627	intron_variant	0			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.40+1002A>G	2.37:g.179346638A>G			Q4ZG69|Q86TQ1|Q9NXT3	RNA	SNP	-	NULL	ENST00000234453.5	37	NULL	CCDS33336.1	2																																																																																			PLEKHA3	-	-	ENSG00000116095		0.428	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA3	HGNC	protein_coding	OTTHUMT00000335241.2	-	0.00	23	0	A	NM_019091		179346638	+1	tier1	-	no_errors	ENST00000461474	ensembl	human	known	74_37	rna	25.00	33	11	SNP	0.000	G
POPDC3	64208	genome.wustl.edu	37	6	105606536	105606536	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr6:105606536G>A	ENST00000254765.3	-	4	963	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	229					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.R229S(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GAAAAAAGGCGGGAGATGTAG	0.393																																																	1	Substitution - Missense(1)	kidney(1)											205.0	210.0	208.0					6																	105606536		2203	4300	6503	SO:0001583	missense	0			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.685C>T	6.37:g.105606536G>A	ENSP00000254765:p.Arg229Cys		B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.R229C	ENST00000254765.3	37	c.685	CCDS5052.1	6	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134178	0.56828	.	.	ENSG00000132429	ENST00000254765;ENST00000429112	T;T	0.34667	1.35;1.35	5.99	5.99	0.97316	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.226336	0.38164	N	0.001789	T	0.51584	0.1683	M	0.75447	2.3	0.52501	D	0.999952	D	0.89917	1.0	D	0.67231	0.95	T	0.50065	-0.8871	10	0.51188	T	0.08	0.119	15.2061	0.73180	0.0:0.0:0.8592:0.1408	.	229	Q9HBV1	POPD3_HUMAN	C	229;75	ENSP00000254765:R229C;ENSP00000414409:R75C	ENSP00000254765:R229C	R	-	1	0	POPDC3	105713229	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	3.042000	0.49815	2.843000	0.97960	0.591000	0.81541	CGC	POPDC3	-	pfam_Popeye_prot,superfamily_cNMP-bd-like	ENSG00000132429		0.393	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POPDC3	HGNC	protein_coding	OTTHUMT00000041651.1	-	0.00	32	0	G	NM_022361		105606536	-1	tier1	-	no_errors	ENST00000254765	ensembl	human	known	74_37	missense	44.23	29	23	SNP	1.000	A
PRB2	653247	genome.wustl.edu	37	12	11546795	11546795	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr12:11546795G>A	ENST00000389362.4	-	3	252	c.217C>T	c.(217-219)Cct>Tct	p.P73S	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	73	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTGGAGGAGGTGGGGGACCT	0.607																																																	0													125.0	143.0	137.0					12																	11546795		2161	4241	6402	SO:0001583	missense	0			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.217C>T	12.37:g.11546795G>A	ENSP00000374013:p.Pro73Ser		O00599|P02811|P04281	Missense_Mutation	SNP	NULL	p.P73S	ENST00000389362.4	37	c.217	CCDS41757.2	12	.	.	.	.	.	.	.	.	.	.	.	1.997	-0.430328	0.04669	.	.	ENSG00000121335	ENST00000389362	T	0.05925	3.37	1.03	-0.17	0.13335	.	0.000000	0.35646	U	0.003069	T	0.04861	0.0131	M	0.67625	2.065	0.09310	N	1	P	0.50710	0.938	B	0.37943	0.261	T	0.38950	-0.9637	10	0.18276	T	0.48	.	2.3807	0.04353	0.2459:0.338:0.416:0.0	.	73	P02812	PRB2_HUMAN	S	73	ENSP00000374013:P73S	ENSP00000374013:P73S	P	-	1	0	PRB2	11438062	0.003000	0.15002	0.003000	0.11579	0.067000	0.16453	-1.111000	0.03303	-0.045000	0.13468	0.418000	0.28097	CCT	PRB2	-	NULL	ENSG00000121335		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2		0.00	87	0	G	NM_006248		11546795	-1			no_errors	ENST00000389362	ensembl	human	known	74_37	missense	11.32	47	6	SNP	0.003	A
PPFIA2	8499	genome.wustl.edu	37	12	81991809	81991809	+	Intron	SNP	C	C	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr12:81991809C>G	ENST00000549396.1	-	4	464				PPFIA2_ENST00000333447.7_Intron|PPFIA2_ENST00000550584.2_Intron|PPFIA2_ENST00000443686.3_Start_Codon_SNP_p.M1I|PPFIA2_ENST00000552948.1_Intron|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000407050.4_Start_Codon_SNP_p.M1I|PPFIA2_ENST00000548586.1_Intron|PPFIA2_ENST00000549325.1_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCGAGAAAATCATTTCTGATC	0.438																																																	0																																										SO:0001627	intron_variant	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.303+78760G>C	12.37:g.81991809C>G			B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.M1I	ENST00000549396.1	37	c.3	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843187	0.51057	.	.	ENSG00000139220	ENST00000407050;ENST00000443686	T;T	0.21191	2.05;2.02	5.87	5.87	0.94306	.	.	.	.	.	T	0.48333	0.1494	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41556	-0.9502	6	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	I	1	ENSP00000385093:M1I;ENSP00000388373:M1I	ENSP00000385093:M1I	M	-	3	0	PPFIA2	80515940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.957000	0.70323	2.941000	0.99782	0.655000	0.94253	ATG	PPFIA2	-	NULL	ENSG00000139220		0.438	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0.00	39	0	C			81991809	-1	tier1	-	no_errors	ENST00000407050	ensembl	human	putative	74_37	missense	18.57	57	13	SNP	1.000	G
PRDM14	63978	genome.wustl.edu	37	8	70964528	70964528	+	Silent	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:70964528G>A	ENST00000276594.2	-	8	1701	c.1500C>T	c.(1498-1500)gcC>gcT	p.A500A		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	500					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GTATGCTGGAGGCTGTGAACC	0.468																																					NSCLC(129;99 1813 5906 40656 46114)												0													98.0	93.0	95.0					8																	70964528		2203	4300	6503	SO:0001819	synonymous_variant	0			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1500C>T	8.37:g.70964528G>A			Q86UX9	Silent	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A500	ENST00000276594.2	37	c.1500	CCDS6206.1	8																																																																																			PRDM14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000147596		0.468	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	HGNC	protein_coding	OTTHUMT00000318505.1	-	0.00	74	0	G			70964528	-1	tier1	-	no_errors	ENST00000276594	ensembl	human	known	74_37	silent	24.03	117	37	SNP	1.000	A
PSMA3	5684	genome.wustl.edu	37	14	58738592	58738592	+	Silent	SNP	A	A	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr14:58738592A>G	ENST00000216455.4	+	11	837	c.747A>G	c.(745-747)gaA>gaG	p.E249E	RP11-349A22.5_ENST00000556400.1_RNA|CTD-2002H8.2_ENST00000557322.1_RNA|RP11-349A22.5_ENST00000555162.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|RP11-349A22.5_ENST00000557660.1_RNA|RP11-349A22.5_ENST00000556225.1_RNA|RP11-349A22.5_ENST00000553657.1_RNA|PSMA3_ENST00000557508.1_Silent_p.E174E|RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000554360.1_RNA|RP11-349A22.5_ENST00000555707.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA|PSMA3_ENST00000412908.2_Silent_p.E242E	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	249					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						AAGAAGATGAATCAGATGATG	0.323																																																	0													75.0	73.0	74.0					14																	58738592		2200	4297	6497	SO:0001819	synonymous_variant	0				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.747A>G	14.37:g.58738592A>G			B2RCK6|Q86U83|Q8N1D8|Q9BS70	Silent	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.E249	ENST00000216455.4	37	c.747	CCDS9731.1	14																																																																																			PSMA3	-	NULL	ENSG00000100567		0.323	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1		0.00	20	0	A	NM_002788		58738592	+1			no_errors	ENST00000216455	ensembl	human	known	74_37	silent	7.14	26	2	SNP	1.000	G
RAB3GAP2	25782	genome.wustl.edu	37	1	220440106	220440106	+	Intron	SNP	T	T	C			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:220440106T>C	ENST00000358951.2	-	1	232				RAB3GAP2_ENST00000462353.1_5'UTR	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ATGAATTTGCTGTGATCCAGG	0.463																																																	0																																										SO:0001627	intron_variant	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.115+5458A>G	1.37:g.220440106T>C			A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	RNA	SNP	-	NULL	ENST00000358951.2	37	NULL	CCDS31028.1	1																																																																																			RAB3GAP2	-	-	ENSG00000118873		0.463	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	-	0.00	87	0	T	NM_012414		220440106	-1	tier1	-	no_errors	ENST00000462353	ensembl	human	known	74_37	rna	24.78	85	28	SNP	0.944	C
RANBP2	5903	genome.wustl.edu	37	2	109381161	109381161	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:109381161C>T	ENST00000283195.6	+	20	4292	c.4166C>T	c.(4165-4167)cCa>cTa	p.P1389L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1389					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTTGGCCCACCATTAGCTGAA	0.408																																																	0													96.0	97.0	96.0					2																	109381161		2203	4300	6503	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4166C>T	2.37:g.109381161C>T	ENSP00000283195:p.Pro1389Leu		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.P1389L	ENST00000283195.6	37	c.4166	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099314	0.37048	.	.	ENSG00000153201	ENST00000283195	T	0.35789	1.29	5.48	4.6	0.57074	.	.	.	.	.	T	0.28067	0.0692	L	0.29908	0.895	0.41204	D	0.986396	P	0.50272	0.933	B	0.39419	0.299	T	0.12400	-1.0549	9	0.87932	D	0	-3.3943	14.446	0.67349	0.1484:0.8516:0.0:0.0	.	1389	P49792	RBP2_HUMAN	L	1389	ENSP00000283195:P1389L	ENSP00000283195:P1389L	P	+	2	0	RANBP2	108747593	0.434000	0.25570	0.988000	0.46212	0.133000	0.20885	2.782000	0.47758	1.286000	0.44565	-0.169000	0.13324	CCA	RANBP2	-	NULL	ENSG00000153201		0.408	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1		0.00	29	0	C	NM_006267		109381161	+1			no_errors	ENST00000283195	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.992	T
AVL9	23080	genome.wustl.edu	37	7	32957147	32957147	+	Intron	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr7:32957147G>T	ENST00000404479.1	+	11	1215				RP9P_ENST00000381639.3_RNA			Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)						cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGTTTTAACTGCTGTATCCTA	0.348																																																	0																																										SO:0001627	intron_variant	0			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000404479.1:c.1216-112075G>T	7.37:g.32957147G>T			Q92573	RNA	SNP	-	NULL	ENST00000404479.1	37	NULL		7																																																																																			RP9P	-	-	ENSG00000205763		0.348	AVL9-201	KNOWN	basic	protein_coding	RP9P	HGNC	protein_coding		-	0.00	32	0	G	NM_015060		32957147	-1	tier1	-	no_errors	ENST00000381639	ensembl	human	known	74_37	rna	9.52	38	4	SNP	1.000	T
SEL1L3	23231	genome.wustl.edu	37	4	25760579	25760579	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr4:25760579G>T	ENST00000399878.3	-	21	3189	c.3067C>A	c.(3067-3069)Cag>Aag	p.Q1023K	SEL1L3_ENST00000264868.5_Missense_Mutation_p.Q988K|SEL1L3_ENST00000502949.1_Missense_Mutation_p.Q870K	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	1023						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TACAGTTCCTGGAGAATGGAG	0.448																																																	0													119.0	114.0	116.0					4																	25760579		1863	4108	5971	SO:0001583	missense	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.3067C>A	4.37:g.25760579G>T	ENSP00000382767:p.Gln1023Lys		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.Q1023K	ENST00000399878.3	37	c.3067	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	G	5.108	0.205494	0.09704	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949;ENST00000507618	T;T;T	0.12255	2.9;2.9;2.7	5.67	5.67	0.87782	.	0.837734	0.11113	N	0.598297	T	0.13200	0.0320	L	0.51422	1.61	0.33412	D	0.578794	B;B	0.19445	0.003;0.036	B;B	0.12837	0.004;0.008	T	0.19321	-1.0309	10	0.02654	T	1	-1.8509	13.0246	0.58808	0.0734:0.0:0.9266:0.0	.	430;1023	B4DTH5;Q68CR1	.;SE1L3_HUMAN	K	1023;988;870;114	ENSP00000382767:Q1023K;ENSP00000264868:Q988K;ENSP00000425438:Q870K	ENSP00000264868:Q988K	Q	-	1	0	SEL1L3	25369677	1.000000	0.71417	0.966000	0.40874	0.964000	0.63967	5.102000	0.64572	2.665000	0.90641	0.591000	0.81541	CAG	SEL1L3	-	NULL	ENSG00000091490		0.448	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	-	0.00	49	0	G	NM_015187		25760579	-1	tier1	-	no_errors	ENST00000399878	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.979	T
SELE	6401	genome.wustl.edu	37	1	169696946	169696946	+	Missense_Mutation	SNP	G	G	T	rs5368	byFrequency	TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:169696946G>T	ENST00000333360.7	-	9	1541	c.1402C>A	c.(1402-1404)Cat>Aat	p.H468N	SELE_ENST00000367776.1_Missense_Mutation_p.H405N|SELE_ENST00000367775.1_Missense_Mutation_p.H343N|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.H343N|SELE_ENST00000367774.1_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367777.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.H405N	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	468	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.		H -> Y (in dbSNP:rs5368). {ECO:0000269|PubMed:10391210, ECO:0000269|Ref.4}.		actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.H468Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GTTGATCCATGTAATTCAAAT	0.488																																																	1	Substitution - Missense(1)	stomach(1)	GRCh37	CM025889	SELE	M	rs5368						130.0	124.0	126.0					1																	169696946		2203	4300	6503	SO:0001583	missense	0			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1402C>A	1.37:g.169696946G>T	ENSP00000331736:p.His468Asn		A2RRD6|P16111	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.H468N	ENST00000333360.7	37	c.1402	CCDS1283.1	1	.	.	.	.	.	.	.	.	.	.	G	6.551	0.469987	0.12461	.	.	ENSG00000007908	ENST00000367781;ENST00000367780;ENST00000333360;ENST00000367775;ENST00000367776	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.67	5.67	0.87782	Complement control module (2);Sushi/SCR/CCP (3);	0.564738	0.14950	N	0.288970	T	0.21186	0.0510	N	0.03304	-0.355	0.19300	N	0.99998	P	0.40731	0.728	B	0.39706	0.307	T	0.05037	-1.0910	10	0.14252	T	0.57	-2.4227	13.4055	0.60911	0.0:0.2572:0.7428:0.0	.	468	P16581	LYAM2_HUMAN	N	405;343;468;343;405	ENSP00000356755:H405N;ENSP00000356754:H343N;ENSP00000331736:H468N;ENSP00000356749:H343N;ENSP00000356750:H405N	ENSP00000331736:H468N	H	-	1	0	SELE	167963570	0.000000	0.05858	0.006000	0.13384	0.914000	0.54420	0.684000	0.25364	2.675000	0.91044	0.650000	0.86243	CAT	SELE	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000007908		0.488	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELE	HGNC	protein_coding	OTTHUMT00000084333.1		0.00	26	0	G	NM_000450		169696946	-1			no_errors	ENST00000333360	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.002	T
SIK2	23235	genome.wustl.edu	37	11	111491117	111491117	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:111491117G>T	ENST00000304987.3	+	3	480	c.307G>T	c.(307-309)Gaa>Taa	p.E103*		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E103*(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CAAAAATGGAGAAATTTTTGG	0.284																																																	1	Substitution - Nonsense(1)	large_intestine(1)											72.0	78.0	76.0					11																	111491117		2201	4291	6492	SO:0001587	stop_gained	0			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.307G>T	11.37:g.111491117G>T	ENSP00000305976:p.Glu103*		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Nonsense_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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E103*	ENST00000304987.3	37	c.307	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	G	38	6.812793	0.97857	.	.	ENSG00000170145	ENST00000304987	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1569	0.89694	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000305976:E103X	E	+	1	0	SIK2	110996327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.567000	0.90737	2.575000	0.86900	0.650000	0.86243	GAA	SIK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000170145		0.284	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3		0.00	14	0	G	NM_015191		111491117	+1			no_errors	ENST00000304987	ensembl	human	known	74_37	nonsense	10.00	18	2	SNP	1.000	T
SLC16A4	9122	genome.wustl.edu	37	1	110921577	110921577	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:110921577G>C	ENST00000369779.4	-	6	1177	c.928C>G	c.(928-930)Ctc>Gtc	p.L310V	SLC16A4_ENST00000541986.1_Missense_Mutation_p.L248V|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.L262V|SLC16A4_ENST00000437429.2_Missense_Mutation_p.L200V|SLC16A4_ENST00000497687.1_5'UTR	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	310					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	AACTGACTGAGGAGAAAAGAC	0.408																																																	0													111.0	106.0	108.0					1																	110921577		2203	4300	6503	SO:0001583	missense	0			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.928C>G	1.37:g.110921577G>C	ENSP00000358794:p.Leu310Val		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L310V	ENST00000369779.4	37	c.928	CCDS823.1	1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.999419	0.74818	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986;ENST00000467986	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.99	1.28	0.21552	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.315746	0.34362	N	0.004033	T	0.75503	0.3858	M	0.74647	2.275	0.33672	D	0.611053	P;P;B;P	0.50066	0.768;0.931;0.299;0.722	P;P;P;B	0.49799	0.559;0.622;0.559;0.338	T	0.71069	-0.4699	10	0.40728	T	0.16	.	6.6285	0.22843	0.6006:0.0:0.3994:0.0	.	200;248;262;310	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	V	310;262;200;248;77	ENSP00000358794:L310V;ENSP00000432495:L262V;ENSP00000394790:L200V;ENSP00000446087:L248V;ENSP00000435768:L77V	ENSP00000358794:L310V	L	-	1	0	SLC16A4	110723100	1.000000	0.71417	0.966000	0.40874	0.897000	0.52465	4.249000	0.58766	0.347000	0.23924	-0.156000	0.13503	CTC	SLC16A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000168679		0.408	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A4	HGNC	protein_coding	OTTHUMT00000031115.3	-	0.00	30	0	G	NM_004696		110921577	-1	tier1	-	no_errors	ENST00000369779	ensembl	human	known	74_37	missense	13.16	33	5	SNP	1.000	C
SLC18A1	6570	genome.wustl.edu	37	8	20007219	20007219	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:20007219C>T	ENST00000276373.5	-	12	1380	c.1114G>A	c.(1114-1116)Ggg>Agg	p.G372R	SLC18A1_ENST00000265808.7_Missense_Mutation_p.G340R|SLC18A1_ENST00000437980.1_Missense_Mutation_p.G372R|SLC18A1_ENST00000440926.1_Missense_Mutation_p.G372R|SLC18A1_ENST00000519026.1_Missense_Mutation_p.G340R|SLC18A1_ENST00000381608.4_Missense_Mutation_p.G372R	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	372					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.G372R(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	ACCAGCATCCCGATTAGGGAA	0.542																																																	1	Substitution - Missense(1)	large_intestine(1)											82.0	82.0	82.0					8																	20007219		2203	4300	6503	SO:0001583	missense	0				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1114G>A	8.37:g.20007219C>T	ENSP00000276373:p.Gly372Arg		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	p.G372R	ENST00000276373.5	37	c.1114	CCDS6013.1	8	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873258	0.72180	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608	T;D;D;D;T;D	0.84589	-0.25;-1.87;-1.87;-1.87;-0.25;-1.87	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051961	0.85682	D	0.000000	D	0.94503	0.8230	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.998	D	0.95115	0.8241	10	0.87932	D	0	-17.0792	18.8623	0.92278	0.0:1.0:0.0:0.0	.	372;340;372	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	R	340;372;372;372;340;372	ENSP00000265808:G340R;ENSP00000276373:G372R;ENSP00000387549:G372R;ENSP00000413361:G372R;ENSP00000429664:G340R;ENSP00000371021:G372R	ENSP00000265808:G340R	G	-	1	0	SLC18A1	20051499	1.000000	0.71417	0.995000	0.50966	0.228000	0.25075	7.525000	0.81892	2.793000	0.96121	0.655000	0.94253	GGG	SLC18A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000036565		0.542	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	HGNC	protein_coding	OTTHUMT00000214106.1		0.00	22	0	C			20007219	-1			no_errors	ENST00000276373	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
SLC26A7	115111	genome.wustl.edu	37	8	92307786	92307786	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:92307786C>T	ENST00000276609.3	+	4	571	c.332C>T	c.(331-333)tCa>tTa	p.S111L	SLC26A7_ENST00000523719.1_Missense_Mutation_p.S111L|SLC26A7_ENST00000309536.2_Missense_Mutation_p.S111L	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCTTAATATCAGCCAACGCC	0.438																																																	0													130.0	113.0	119.0					8																	92307786		2203	4300	6503	SO:0001583	missense	0			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.332C>T	8.37:g.92307786C>T	ENSP00000276609:p.Ser111Leu			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.S111L	ENST00000276609.3	37	c.332	CCDS6254.1	8	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421471	0.83559	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	D	0.86552	0.5960	N	0.02296	-0.605	0.44000	D	0.996704	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.88206	0.2887	10	0.30078	T	0.28	.	18.3916	0.90485	0.0:1.0:0.0:0.0	.	111;111	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	L	111	ENSP00000428881:S111L;ENSP00000428849:S111L;ENSP00000276609:S111L;ENSP00000309504:S111L	ENSP00000276609:S111L	S	+	2	0	SLC26A7	92376962	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.759000	0.62227	2.644000	0.89710	0.655000	0.94253	TCA	SLC26A7	-	NULL	ENSG00000147606		0.438	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	HGNC	protein_coding	OTTHUMT00000377011.1	-	0.00	46	0	C			92307786	+1	tier1	-	no_errors	ENST00000309536	ensembl	human	known	74_37	missense	13.46	90	14	SNP	1.000	T
SLITRK2	84631	genome.wustl.edu	37	X	144905225	144905225	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chrX:144905225C>A	ENST00000370490.1	+	1	5537	c.1282C>A	c.(1282-1284)Ctt>Att	p.L428I	SLITRK2_ENST00000434188.2_Missense_Mutation_p.L428I|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L428I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L428I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L428I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	428					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TTTACGCAGACTTTATCTGAA	0.398																																																	0													131.0	132.0	131.0					X																	144905225		2203	4300	6503	SO:0001583	missense	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1282C>A	X.37:g.144905225C>A	ENSP00000359521:p.Leu428Ile		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L428I	ENST00000370490.1	37	c.1282	CCDS14680.1	X	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758573	0.69763	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90484	0.7019	M	0.85859	2.78	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	D	0.91880	0.5515	10	0.72032	D	0.01	-7.0935	15.6062	0.76672	0.0:1.0:0.0:0.0	.	428	Q9H156	SLIK2_HUMAN	I	428	ENSP00000334374:L428I;ENSP00000411681:L428I;ENSP00000359521:L428I;ENSP00000397015:L428I;ENSP00000407347:L428I;ENSP00000412010:L428I	ENSP00000334374:L428I	L	+	1	0	SLITRK2	144712917	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.276000	0.51646	2.280000	0.76307	0.594000	0.82650	CTT	SLITRK2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000185985		0.398	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	-	0.00	39	0	C	NM_032539		144905225	+1	tier1	-	no_errors	ENST00000370490	ensembl	human	known	74_37	missense	12.50	56	8	SNP	1.000	A
SNAP25	6616	genome.wustl.edu	37	20	10287391	10287391	+	3'UTR	SNP	A	A	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr20:10287391A>G	ENST00000254976.2	+	0	1378				SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_3'UTR	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AGAACTAAATAGATTTTTAGA	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.*546A>G	20.37:g.10287391A>G			B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	RNA	SNP	-	NULL	ENST00000254976.2	37	NULL	CCDS13110.1	20																																																																																			SNAP25	-	-	ENSG00000132639		0.323	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	HGNC	protein_coding	OTTHUMT00000077976.3	-	0.00	50	0	A	NM_130811		10287391	+1	tier1	-	no_errors	ENST00000495883	ensembl	human	known	74_37	rna	35.14	48	26	SNP	1.000	G
SLC3A2	6520	genome.wustl.edu	37	11	62622798	62622798	+	5'Flank	SNP	A	A	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:62622798A>G	ENST00000377890.2	+	0	0				SNHG1_ENST00000384706.1_RNA|SNHG1_ENST00000364799.1_RNA|SLC3A2_ENST00000535296.1_5'Flank|SLC3A2_ENST00000377891.2_5'Flank|SLC3A2_ENST00000377892.1_5'Flank|SNHG1_ENST00000363981.1_RNA|SNHG1_ENST00000384147.1_RNA|SLC3A2_ENST00000377889.2_5'Flank|SNHG1_ENST00000383926.1_RNA|SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000384756.1_RNA|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000516331.1_RNA	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CCACTAATCCATCAGAAAGAG	0.423																																																	0													84.0	79.0	80.0					11																	62622798		874	1990	2864	SO:0001631	upstream_gene_variant	0				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091		11.37:g.62622798A>G	Exception_encountered		Q13543	RNA	SNP	-	NULL	ENST00000377890.2	37	NULL	CCDS8039.2	11																																																																																			SNHG1	-	-	ENSG00000255717		0.423	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	SNHG1	HGNC	protein_coding	OTTHUMT00000157306.1	-	0.00	31	0	A	NM_001012661		62622798	-1	tier1	-	no_errors	ENST00000384147	ensembl	human	known	74_37	rna	23.26	33	10	SNP	0.931	G
KIAA1731	85459	genome.wustl.edu	37	11	93463755	93463755	+	IGR	SNP	G	G	C	rs11557555		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:93463755G>C	ENST00000325212.6	+	0	8055				SNORD5_ENST00000459342.1_RNA|SNORA8_ENST00000384574.1_RNA|SNORA18_ENST00000384416.1_RNA|SNORA1_ENST00000384107.1_RNA|SNORA32_ENST00000384072.1_RNA|SNORD6_ENST00000365444.1_RNA|SNORA25_ENST00000384384.1_RNA|TAF1D_ENST00000546088.1_Intron			Q9C0D2	K1731_HUMAN	KIAA1731							centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCATCTTTGGTCACAGCGTT	0.388																																																	0													123.0	117.0	119.0					11																	93463755		874	1989	2863	SO:0001628	intergenic_variant	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449		11.37:g.93463755G>C			C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	RNA	SNP	-	NULL	ENST00000325212.6	37	NULL	CCDS44708.1	11																																																																																			SNORA25	-	-	ENSG00000207112		0.388	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SNORA25	HGNC	protein_coding	OTTHUMT00000394640.1	-	0.00	72	0	G	NM_033395		93463755	-1	tier1	-	no_errors	ENST00000384384	ensembl	human	known	74_37	rna	21.92	57	16	SNP	1.000	C
SPECC1L	23384	genome.wustl.edu	37	22	24718567	24718567	+	Missense_Mutation	SNP	G	G	T	rs140698674		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr22:24718567G>T	ENST00000314328.9	+	5	1904	c.1619G>T	c.(1618-1620)cGc>cTc	p.R540L	SPECC1L_ENST00000541492.1_Missense_Mutation_p.R540L|SPECC1L_ENST00000416735.1_Intron|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.R540L|SPECC1L_ENST00000437398.1_Missense_Mutation_p.R540L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	540					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CTCAAAGAACGCAGTCACCAT	0.463																																																	0													53.0	51.0	52.0					22																	24718567		2203	4300	6503	SO:0001583	missense	0			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1619G>T	22.37:g.24718567G>T	ENSP00000325785:p.Arg540Leu		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain	p.R540L	ENST00000314328.9	37	c.1619	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602489	0.87157	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.64438	-0.1;2.4;-0.1;2.92	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	M	0.73217	2.22	0.80722	D	1	D;D	0.63880	0.982;0.993	P;D	0.74023	0.643;0.982	T	0.80612	-0.1305	10	0.72032	D	0.01	-15.733	18.3864	0.90468	0.0:0.0:1.0:0.0	.	540;540	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	L	568;540;540;540;540	ENSP00000393363:R540L;ENSP00000405671:R540L;ENSP00000325785:R540L;ENSP00000439633:R540L	ENSP00000325785:R540L	R	+	2	0	SPECC1L	23048567	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	9.647000	0.98478	2.597000	0.87782	0.655000	0.94253	CGC	SPECC1L	-	NULL	ENSG00000100014		0.463	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	-	0.00	33	0	G	NM_015330		24718567	+1	tier1	-	no_errors	ENST00000314328	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
SYNPO	11346	genome.wustl.edu	37	5	150029259	150029259	+	Silent	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr5:150029259C>T	ENST00000394243.1	+	3	2528	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	SYNPO_ENST00000519664.1_Silent_p.S474S|SYNPO_ENST00000307662.4_Silent_p.S474S|SYNPO_ENST00000522122.1_Silent_p.S718S	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	718					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAACCTCTCCGAGGCCTCTG	0.652																																																	0													39.0	44.0	42.0					5																	150029259		2203	4300	6503	SO:0001819	synonymous_variant	0			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2154C>T	5.37:g.150029259C>T			A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	NULL	p.S718	ENST00000394243.1	37	c.2154	CCDS54937.1	5																																																																																			SYNPO	-	NULL	ENSG00000171992		0.652	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	-	0.00	32	0	C	NM_007286		150029259	+1	tier1	-	no_errors	ENST00000394243	ensembl	human	known	74_37	silent	58.06	13	18	SNP	0.001	T
TCHH	7062	genome.wustl.edu	37	1	152081839	152081839	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:152081839C>T	ENST00000368804.1	-	2	3853	c.3854G>A	c.(3853-3855)cGc>cAc	p.R1285H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1285					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGCCAGCGCCTCCTCTC	0.567																																																	0													102.0	105.0	104.0					1																	152081839		2000	4152	6152	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3854G>A	1.37:g.152081839C>T	ENSP00000357794:p.Arg1285His		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R1285H	ENST00000368804.1	37	c.3854	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766576	0.31228	.	.	ENSG00000159450	ENST00000368804	T	0.08807	3.05	3.97	-0.388	0.12459	.	.	.	.	.	T	0.01287	0.0042	N	0.24115	0.695	0.09310	N	1	B	0.25351	0.124	B	0.12156	0.007	T	0.47071	-0.9145	9	0.39692	T	0.17	.	2.2739	0.04097	0.1521:0.5138:0.1483:0.1859	.	1285	Q07283	TRHY_HUMAN	H	1285	ENSP00000357794:R1285H	ENSP00000357794:R1285H	R	-	2	0	TCHH	150348463	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-0.176000	0.09811	-0.102000	0.12197	-0.309000	0.09137	CGC	TCHH	-	NULL	ENSG00000159450		0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0.00	38	0	C	NM_007113		152081839	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	24.53	40	13	SNP	0.000	T
TGFBR2	7048	genome.wustl.edu	37	3	30715678	30715678	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr3:30715678G>A	ENST00000295754.5	+	5	1718	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	TGFBR2_ENST00000359013.4_Missense_Mutation_p.D471N	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in LDS2). {ECO:0000269|PubMed:16251899}.		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)	p.D446N(2)		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						CAAGCAGACCGATGTCTACTC	0.473																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	GRCh37	CM060085|CM086981	TGFBR2	M							158.0	136.0	143.0					3																	30715678		2203	4300	6503	SO:0001583	missense	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.1336G>A	3.37:g.30715678G>A	ENSP00000295754:p.Asp446Asn		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_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.D471N	ENST00000295754.5	37	c.1411	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.893827	0.97074	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.99394	-5.82;-5.82	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97577	1.0108	10	0.87932	D	0	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	446;471	P37173;D2JYI1	TGFR2_HUMAN;.	N	446;471;276	ENSP00000295754:D446N;ENSP00000351905:D471N	ENSP00000295754:D446N	D	+	1	0	TGFBR2	30690682	1.000000	0.71417	0.970000	0.41538	0.993000	0.82548	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GAT	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,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	ENSG00000163513		0.473	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0.00	126	0	G			30715678	+1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	missense	18.03	99	22	SNP	1.000	A
TF	7018	genome.wustl.edu	37	3	133478024	133478024	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr3:133478024G>A	ENST00000402696.3	+	9	1539	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	TF_ENST00000264998.3_Missense_Mutation_p.E225K	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	352					blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CATAGGCCCAGAAGCCCCAAC	0.493																																																	0													149.0	152.0	151.0					3																	133478024		2203	4300	6503	SO:0001583	missense	0				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1054G>A	3.37:g.133478024G>A	ENSP00000385834:p.Glu352Lys		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.E352K	ENST00000402696.3	37	c.1054	CCDS3080.1	3	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696172	0.30052	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.02177	4.41;4.47	4.7	2.85	0.33270	.	1.212640	0.05604	N	0.576821	T	0.02929	0.0087	L	0.39020	1.185	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.46665	-0.9175	10	0.38643	T	0.18	-2.2942	8.1593	0.31190	0.0895:0.1587:0.7518:0.0	.	352	P02787	TRFE_HUMAN	K	352;225	ENSP00000385834:E352K;ENSP00000264998:E225K	ENSP00000264998:E225K	E	+	1	0	TF	134960714	0.099000	0.21834	0.006000	0.13384	0.095000	0.18619	2.035000	0.41155	0.553000	0.29044	0.313000	0.20887	GAA	TF	-	smart_Transferrin_fam,pirsf_Transferrin	ENSG00000091513		0.493	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	HGNC	protein_coding	OTTHUMT00000317775.1	-	0.00	24	0	G	NM_001063		133478024	+1	tier1	-	no_errors	ENST00000402696	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.068	A
THBS4	7060	genome.wustl.edu	37	5	79378262	79378263	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr5:79378262_79378263TG>GT	ENST00000350881.2	+	21	2908_2909	c.2718_2719TG>GT	c.(2716-2721)gcTGac>gcGTac	p.D907Y	THBS4_ENST00000511733.1_Missense_Mutation_p.D816Y|THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	907	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGTTGGTGGCTGACTCTGGCGT	0.55																																																	0																																										SO:0001583	missense	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	Exception_encountered	5.37:g.79378262_79378263delinsGT	ENSP00000339730:p.Asp907Tyr		B2R909|Q86TG2	Silent|Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A906|p.D907Y	ENST00000350881.2	37	c.2718|c.2719	CCDS4049.1	5																																																																																			THBS4	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf	ENSG00000113296		0.550	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1		0.00	68|69	0	T|G			79378262|79378263	+1			no_errors	ENST00000350881	ensembl	human	known	74_37	silent|missense	13.70|14.08	63|61	10	SNP	0.128|1.000	G|T
TMCC1	23023	genome.wustl.edu	37	3	129373823	129373823	+	Silent	SNP	G	G	C			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr3:129373823G>C	ENST00000393238.3	-	5	1975	c.1635C>G	c.(1633-1635)gcC>gcG	p.A545A	TMCC1_ENST00000426664.2_Silent_p.A431A|TMCC1_ENST00000329333.5_Silent_p.A366A|TMCC1_ENST00000432054.2_Silent_p.A221A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	545						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGATGTCCCGGGCCCGTTCAT	0.418																																																	0													141.0	143.0	143.0					3																	129373823		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1635C>G	3.37:g.129373823G>C			A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	pfam_Predicted_TM_coiled-coil_2	p.A545	ENST00000393238.3	37	c.1635	CCDS33855.1	3																																																																																			TMCC1	-	pfam_Predicted_TM_coiled-coil_2	ENSG00000172765		0.418	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC1	HGNC	protein_coding	OTTHUMT00000356418.2	-	0.00	39	0	G	NM_015008		129373823	-1	tier1	-	no_errors	ENST00000393238	ensembl	human	known	74_37	silent	27.69	47	18	SNP	0.979	C
TMEM132C	92293	genome.wustl.edu	37	12	129190651	129190651	+	Silent	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr12:129190651G>A	ENST00000435159.2	+	9	3138	c.3138G>A	c.(3136-3138)tcG>tcA	p.S1046S	TMEM132C_ENST00000537538.1_Silent_p.S431S|TMEM132C_ENST00000315208.8_Silent_p.S662S	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	1046						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CCCTGCACTCGCCCACCTCCA	0.602																																																	0													65.0	66.0	65.0					12																	129190651		692	1591	2283	SO:0001819	synonymous_variant	0			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.3138G>A	12.37:g.129190651G>A			Q69YX8	Silent	SNP	NULL	p.S1046	ENST00000435159.2	37	c.3138		12																																																																																			TMEM132C	-	NULL	ENSG00000181234		0.602	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		-	0.00	46	0	G	XM_044062		129190651	+1	tier1	-	no_errors	ENST00000435159	ensembl	human	known	74_37	silent	25.58	32	11	SNP	0.129	A
TMEM221	100130519	genome.wustl.edu	37	19	17556067	17556067	+	Missense_Mutation	SNP	C	C	T	rs558870960	byFrequency	TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr19:17556067C>T	ENST00000341130.5	-	2	451	c.347G>A	c.(346-348)cGc>cAc	p.R116H	CTD-2521M24.10_ENST00000594663.1_Missense_Mutation_p.R101H	NM_001190844.1	NP_001177773.1	A6NGB7	TM221_HUMAN	transmembrane protein 221	116						integral component of membrane (GO:0016021)											TCTGAGGAGGCGGCAGTCGTA	0.572													C|||	2	0.000399361	0.0	0.0	5008	,	,		19734	0.0		0.0	False		,,,				2504	0.002																0																																										SO:0001583	missense	0				CCDS54230.1	19p13.11	2014-08-12			ENSG00000188051	ENSG00000188051			21943	protein-coding gene	gene with protein product							Standard	NM_001190844		Approved		uc021uqh.1	A6NGB7	OTTHUMG00000182858	ENST00000341130.5:c.347G>A	19.37:g.17556067C>T	ENSP00000342162:p.Arg116His			Missense_Mutation	SNP	NULL	p.R116H	ENST00000341130.5	37	c.347	CCDS54230.1	19	.	.	.	.	.	.	.	.	.	.	.	19.20	3.782126	0.70222	.	.	ENSG00000188051	ENST00000341130	.	.	.	3.98	2.92	0.33932	.	0.088509	0.38005	N	0.001852	T	0.50616	0.1626	M	0.64997	1.995	0.32094	N	0.591483	.	.	.	.	.	.	T	0.60762	-0.7199	7	0.56958	D	0.05	.	6.9226	0.24397	0.0:0.8698:0.0:0.1302	.	.	.	.	H	116	.	ENSP00000342162:R116H	R	-	2	0	TMEM221	17417067	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.870000	0.48451	1.971000	0.57363	0.499000	0.49734	CGC	TMEM221	-	NULL	ENSG00000188051		0.572	TMEM221-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM221	HGNC	protein_coding	OTTHUMT00000464013.1	-	0.00	60	0	C			17556067	-1	tier1	-	no_errors	ENST00000341130	ensembl	human	known	74_37	missense	18.18	54	12	SNP	0.997	T
TMPO	7112	genome.wustl.edu	37	12	98931427	98931427	+	Intron	SNP	A	A	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr12:98931427A>G	ENST00000556029.1	+	4	1019				TMPO_ENST00000261210.5_Missense_Mutation_p.N247S|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTAGCCTTTAATGGTTGACAC	0.363																																																	0																																										SO:0001627	intron_variant	0				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.663+77A>G	12.37:g.98931427A>G			A2T926|Q14861	Missense_Mutation	SNP	pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom	p.N247S	ENST00000556029.1	37	c.740	CCDS31879.1	12	.	.	.	.	.	.	.	.	.	.	A	7.544	0.661228	0.14645	.	.	ENSG00000120802	ENST00000261210	T	0.72942	-0.7	5.03	-1.72	0.08107	.	.	.	.	.	T	0.47229	0.1434	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19910	-1.0291	7	.	.	.	.	4.0208	0.09665	0.3197:0.0:0.4297:0.2506	.	247	A2T926	.	S	247	ENSP00000261210:N247S	.	N	+	2	0	TMPO	97455558	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	0.848000	0.27710	-0.564000	0.06070	-0.341000	0.08007	AAT	TMPO	-	NULL	ENSG00000120802		0.363	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	-	0.00	15	0	A	NM_003276		98931427	+1	tier1	-	no_errors	ENST00000261210	ensembl	human	novel	74_37	missense	26.92	19	7	SNP	0.001	G
TOR1AIP2	163590	genome.wustl.edu	37	1	179815756	179815756	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:179815756G>A	ENST00000367612.3	-	6	1250	c.863C>T	c.(862-864)tCc>tTc	p.S288F	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.S288F	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						AGTGGGGTTGGAAGCATTGAG	0.517																																																	0													88.0	82.0	84.0					1																	179815756		2203	4300	6503	SO:0001583	missense	0				CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.863C>T	1.37:g.179815756G>A	ENSP00000356584:p.Ser288Phe		Q05BU2	Missense_Mutation	SNP	pfam_Lamina-ass_polypeptide_CLAP1C	p.S288F	ENST00000367612.3	37	c.863	CCDS1334.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989398	0.74589	.	.	ENSG00000169905	ENST00000367612	T	0.35605	1.3	5.63	5.63	0.86233	.	0.371554	0.24490	N	0.038066	T	0.65281	0.2676	M	0.80847	2.515	0.33977	D	0.647501	D	0.89917	1.0	D	0.87578	0.998	T	0.75314	-0.3361	10	0.87932	D	0	-10.2363	19.3046	0.94155	0.0:0.0:1.0:0.0	.	288	Q8NFQ8	TOIP2_HUMAN	F	288	ENSP00000356584:S288F	ENSP00000356584:S288F	S	-	2	0	TOR1AIP2	178082379	0.933000	0.31639	0.127000	0.21898	0.966000	0.64601	4.068000	0.57534	2.652000	0.90054	0.655000	0.94253	TCC	TOR1AIP2	-	pfam_Lamina-ass_polypeptide_CLAP1C	ENSG00000169905		0.517	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1AIP2	HGNC	protein_coding	OTTHUMT00000085304.1	-	0.00	71	0	G	NM_145034		179815756	-1	tier1	-	no_errors	ENST00000367612	ensembl	human	known	74_37	missense	19.10	72	17	SNP	0.682	A
TP53	7157	genome.wustl.edu	37	17	7577610	7577610	+	Splice_Site	SNP	T	T	C			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr17:7577610T>C	ENST00000269305.4	-	7	862		c.e7-2		TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	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						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.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	AGAGCCAACCTAGGAGATAAC	0.522		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"""	53	Unknown(43)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	lung(16)|liver(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|ovary(5)|breast(4)|bone(4)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|oesophagus(1)											88.0	74.0	79.0					17																	7577610		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.673-2A>G	17.37:g.7577610T>C			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	Splice_Site	SNP	-	e6-2	ENST00000269305.4	37	c.673-2	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468043	0.63625	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3302	0.43818	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518335	1.000000	0.71417	0.324000	0.25361	0.557000	0.35523	7.634000	0.83273	1.750000	0.51863	0.379000	0.24179	.	TP53	-	-	ENSG00000141510		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	69	0	T	NM_000546	Intron	7577610	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	48.08	54	50	SNP	0.999	C
TRIB3	57761	genome.wustl.edu	37	20	371973	371973	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr20:371973G>A	ENST00000217233.3	+	3	887	c.334G>A	c.(334-336)Gcg>Acg	p.A112T	TRIB3_ENST00000422053.2_Missense_Mutation_p.A139T	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	112	Interaction with DDIT3/CHOP.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GGAGCCCTATGCGCGGCTGCC	0.652																																					Melanoma(101;421 2374 19538)												0													48.0	53.0	51.0					20																	371973		2202	4300	6502	SO:0001583	missense	0			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.334G>A	20.37:g.371973G>A	ENSP00000217233:p.Ala112Thr		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.A139T	ENST00000217233.3	37	c.415	CCDS12997.1	20	.	.	.	.	.	.	.	.	.	.	G	3.383	-0.125962	0.06795	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.66460	-0.21;-0.21;-0.21	5.1	1.77	0.24775	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.820566	0.10554	N	0.661078	T	0.39627	0.1085	N	0.05031	-0.125	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.004	T	0.20505	-1.0273	10	0.31617	T	0.26	-0.872	3.7278	0.08481	0.2248:0.0:0.3114:0.4638	.	139;112	B4DMM9;Q96RU7	.;TRIB3_HUMAN	T	112;112;139	ENSP00000217233:A112T;ENSP00000391873:A112T;ENSP00000415416:A139T	ENSP00000217233:A112T	A	+	1	0	TRIB3	319973	0.000000	0.05858	0.002000	0.10522	0.137000	0.21094	0.547000	0.23299	0.164000	0.19529	0.561000	0.74099	GCG	TRIB3	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000101255		0.652	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB3	HGNC	protein_coding	OTTHUMT00000077441.2	-	0.00	45	0	G	NM_021158		371973	+1	tier1	-	no_errors	ENST00000422053	ensembl	human	known	74_37	missense	34.94	54	29	SNP	0.001	A
TTLL13	440307	genome.wustl.edu	37	15	90801306	90801306	+	Silent	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr15:90801306C>T	ENST00000339615.5	+	9	1262	c.972C>T	c.(970-972)caC>caT	p.H324H	TTLL13_ENST00000438251.1_Silent_p.H324H|RP11-697E2.6_ENST00000561573.1_Intron	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TGCAAGAGCACAGCTACAACC	0.557																																																	0													147.0	124.0	132.0					15																	90801306		2199	4298	6497	SO:0001819	synonymous_variant	0			BC036668		15q26.1	2013-02-14				ENSG00000213471		"""Tubulin tyrosine ligase-like family"""	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.972C>T	15.37:g.90801306C>T				Silent	SNP	pfam_TTL/TTLL_fam	p.H324	ENST00000339615.5	37	c.972	CCDS32328.1	15																																																																																			TTLL13	-	pfam_TTL/TTLL_fam	ENSG00000213471		0.557	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL13	HGNC	protein_coding	OTTHUMT00000435854.1	-	0.00	37	0	C	NM_001029964		90801306	+1	tier1	-	no_errors	ENST00000438251	ensembl	human	known	74_37	silent	46.67	24	21	SNP	0.967	T
UBR4	23352	genome.wustl.edu	37	1	19422060	19422060	+	Silent	SNP	G	G	C	rs2236378	byFrequency	TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:19422060G>C	ENST00000375254.3	-	93	13632	c.13605C>G	c.(13603-13605)gtC>gtG	p.V4535V	UBR4_ENST00000375217.2_Silent_p.V4528V|UBR4_ENST00000429347.2_Silent_p.V98V|UBR4_ENST00000375226.2_Silent_p.V4511V|UBR4_ENST00000375267.2_Silent_p.V4535V|UBR4_ENST00000375224.1_Silent_p.V242V|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000543981.1_Silent_p.V199V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4535					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCCCCAGCATGACGTTCAAGG	0.502																																																	0													175.0	132.0	147.0					1																	19422060		2203	4300	6503	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13605C>G	1.37:g.19422060G>C			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.V4535	ENST00000375254.3	37	c.13605	CCDS189.1	1																																																																																			UBR4	-	NULL	ENSG00000127481		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0.00	87	0	G	NM_020765		19422060	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	silent	20.41	78	20	SNP	1.000	C
UBR7	55148	genome.wustl.edu	37	14	93676302	93676302	+	Splice_Site	SNP	A	A	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr14:93676302A>T	ENST00000013070.6	+	2	519	c.283A>T	c.(283-285)Aga>Tga	p.R95*	C14orf142_ENST00000306954.4_5'Flank|RP11-371E8.4_ENST00000557574.1_Splice_Site_p.R114*|RP11-371E8.4_ENST00000557048.1_3'UTR|UBR7_ENST00000416753.1_Intron	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	95							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						ATACACAAAAAGGTAAACATA	0.363																																																	0													82.0	78.0	80.0					14																	93676302		2203	4300	6503	SO:0001630	splice_region_variant	0			AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.284+1A>T	14.37:g.93676302A>T			Q86U21|Q86UA9|Q96BY0|Q9NVV6	Nonsense_Mutation	SNP	pfam_Znf_N-recognin,superfamily_Znf_FYVE_PHD,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R95*	ENST00000013070.6	37	c.283	CCDS9909.1	14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	25.0|25.0|25.0	4.590433|4.590433|4.590433	0.86851|0.86851|0.86851	.|.|.	.|.|.	ENSG00000012963|ENSG00000012963|ENSG00000259066;ENSG00000012963;ENSG00000012963	ENST00000555113|ENST00000553857|ENST00000557574;ENST00000013070;ENST00000554232	D|D|.	0.84146|0.83591|.	-1.81|-1.74|.	4.89|4.89|4.89	4.89|4.89|4.89	0.63831|0.63831|0.63831	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|.	0.41190|0.41190|.	0.1148|0.1148|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.31420|0.31420|.	-0.9944|-0.9944|.	5|5|.	.|.|0.02654	.|.|T	.|.|1	-15.0504|-15.0504|-15.0504	14.1807|14.1807|14.1807	0.65572|0.65572|0.65572	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	M|N|X	94|20|114;95;95	ENSP00000451051:K94M|ENSP00000451785:K20N|.	.|.|ENSP00000013070:R95X	K|K|R	+|+|+	2|3|1	0|2|2	UBR7|UBR7|RP11-371E8.4;UBR7	92746055|92746055|92746055	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.973000|0.973000|0.973000	0.67179|0.67179|0.67179	6.439000|6.439000|6.439000	0.73430|0.73430|0.73430	1.830000|1.830000|1.830000	0.53286|0.53286|0.53286	0.448000|0.448000|0.448000	0.29417|0.29417|0.29417	AAG|AAA|AGA	UBR7	-	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	ENSG00000012963		0.363	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR7	HGNC	protein_coding	OTTHUMT00000412693.1	-	0.00	72	0	A	NM_175748	Nonsense_Mutation	93676302	+1	tier1	-	no_errors	ENST00000013070	ensembl	human	known	74_37	nonsense	25.49	76	26	SNP	1.000	T
VCP	7415	genome.wustl.edu	37	9	35059557	35059557	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr9:35059557G>T	ENST00000358901.6	-	14	2832	c.1937C>A	c.(1936-1938)cCa>cAa	p.P646Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	646					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)	p.P646Q(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATCAGGAAGTGGGATGTAGAT	0.522																																																	2	Substitution - Missense(2)	lung(2)											150.0	120.0	130.0					9																	35059557		2203	4300	6503	SO:0001583	missense	0			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1937C>A	9.37:g.35059557G>T	ENSP00000351777:p.Pro646Gln		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.P646Q	ENST00000358901.6	37	c.1937	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.454723	0.96223	.	.	ENSG00000165280	ENST00000358901	D	0.95238	-3.65	6.07	6.07	0.98685	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97868	1.0284	10	0.66056	D	0.02	-26.4201	20.6439	0.99570	0.0:0.0:1.0:0.0	.	646	P55072	TERA_HUMAN	Q	646	ENSP00000351777:P646Q	ENSP00000351777:P646Q	P	-	2	0	VCP	35049557	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CCA	VCP	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.522	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1		0.00	40	0	G	NM_007126		35059557	-1			no_errors	ENST00000358901	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T
UNC13B	10497	genome.wustl.edu	37	9	35396854	35396854	+	Missense_Mutation	SNP	G	G	A	rs140663072		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr9:35396854G>A	ENST00000378495.3	+	27	3427	c.3205G>A	c.(3205-3207)Gtg>Atg	p.V1069M	UNC13B_ENST00000396787.1_Missense_Mutation_p.V1081M|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Missense_Mutation_p.V1069M	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1069	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGCAGTTCGTGCTACAATG	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20903	0.0		0.0	False		,,,				2504	0.0																0								G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	233.0	215.0	221.0		3205	5.6	1.0	9	dbSNP_134	221	0,8600		0,0,4300	no	missense	UNC13B	NM_006377.3	21	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	1069/1592	35396854	2,13004	2203	4300	6503	SO:0001583	missense	0			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3205G>A	9.37:g.35396854G>A	ENSP00000367756:p.Val1069Met		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.V1069M	ENST00000378495.3	37	c.3205	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935300	0.92458	4.54E-4	0.0	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.89939	-2.46;-2.41;-2.59	5.57	5.57	0.84162	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.935	D	0.94869	0.8028	10	0.87932	D	0	-16.8819	19.5625	0.95378	0.0:0.0:1.0:0.0	.	1069;1069	F8W8M9;O14795	.;UN13B_HUMAN	M	1081;1069;1069;656	ENSP00000380006:V1081M;ENSP00000367756:V1069M;ENSP00000367757:V1069M	ENSP00000367756:V1069M	V	+	1	0	UNC13B	35386854	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.760000	0.98935	2.620000	0.88729	0.563000	0.77884	GTG	UNC13B	-	NULL	ENSG00000198722		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	-	0.00	55	0	G	NM_006377		35396854	+1	tier1	rs140663072	no_errors	ENST00000378496	ensembl	human	known	74_37	missense	20.51	93	24	SNP	1.000	A
VMP1	81671	genome.wustl.edu	37	17	57889104	57889104	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr17:57889104G>A	ENST00000262291.4	+	9	1179	c.869G>A	c.(868-870)gGt>gAt	p.G290D	VMP1_ENST00000536180.1_Missense_Mutation_p.G193D|VMP1_ENST00000537567.1_Missense_Mutation_p.G156D|VMP1_ENST00000539763.1_Missense_Mutation_p.G98D|VMP1_ENST00000545362.1_Missense_Mutation_p.G234D	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	290					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						ACCTTCTTTGGTGCAACCCTA	0.378																																																	0													176.0	170.0	172.0					17																	57889104		2203	4300	6503	SO:0001583	missense	0				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.869G>A	17.37:g.57889104G>A	ENSP00000262291:p.Gly290Asp		B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	NULL	p.G290D	ENST00000262291.4	37	c.869	CCDS11619.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.329475	0.95733	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	T;T	0.41400	1.0;1.0	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.89968	3.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;0.999	T	0.77078	-0.2721	10	0.66056	D	0.02	-7.1261	20.0324	0.97544	0.0:0.0:1.0:0.0	.	156;193;234;290	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	D	290;156;98;193;234	ENSP00000445130:G156D;ENSP00000439959:G98D	ENSP00000262291:G290D	G	+	2	0	VMP1	55243886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.706000	0.98722	2.832000	0.97577	0.655000	0.94253	GGT	VMP1	-	NULL	ENSG00000062716		0.378	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMP1	HGNC	protein_coding	OTTHUMT00000448793.1	-	0.00	60	0	G	NM_030938		57889104	+1	tier1	-	no_errors	ENST00000262291	ensembl	human	known	74_37	missense	16.25	67	13	SNP	1.000	A
VWF	7450	genome.wustl.edu	37	12	6062682	6062682	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr12:6062682C>T	ENST00000261405.5	-	48	8220	c.7966G>A	c.(7966-7968)Gga>Aga	p.G2656R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2656					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATGATCTGTCCTCCTCTTAGC	0.458																																																	0													171.0	137.0	149.0					12																	6062682		2203	4300	6503	SO:0001583	missense	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7966G>A	12.37:g.6062682C>T	ENSP00000261405:p.Gly2656Arg		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.G2656R	ENST00000261405.5	37	c.7966	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999453	0.35320	.	.	ENSG00000110799	ENST00000261405	T	0.37584	1.19	4.85	4.85	0.62838	.	0.000000	0.35040	N	0.003492	T	0.58864	0.2152	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59182	-0.7502	10	0.49607	T	0.09	.	13.6503	0.62308	0.0:1.0:0.0:0.0	.	2656	P04275	VWF_HUMAN	R	2656	ENSP00000261405:G2656R	ENSP00000261405:G2656R	G	-	1	0	VWF	5932943	0.996000	0.38824	1.000000	0.80357	0.535000	0.34838	3.024000	0.49674	2.679000	0.91253	0.655000	0.94253	GGA	VWF	-	pirsf_VWF	ENSG00000110799		0.458	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0.00	29	0	C	NM_000552		6062682	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	10.94	57	7	SNP	1.000	T
WNT9A	7483	genome.wustl.edu	37	1	228111888	228111888	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:228111888T>C	ENST00000272164.5	-	3	576	c.566A>G	c.(565-567)aAg>aGg	p.K189R		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	189					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TCGCAGATCCTTGCTTGACCG	0.612																																																	0													97.0	91.0	93.0					1																	228111888		2203	4300	6503	SO:0001583	missense	0			AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.566A>G	1.37:g.228111888T>C	ENSP00000272164:p.Lys189Arg		A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a	p.K189R	ENST00000272164.5	37	c.566	CCDS31045.1	1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.706108	0.30232	.	.	ENSG00000143816	ENST00000272164	T	0.75589	-0.95	4.78	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	N	0.17674	0.51	0.49582	D	0.999808	B	0.06786	0.001	B	0.15484	0.013	T	0.36915	-0.9728	10	0.05721	T	0.95	.	5.8182	0.18512	0.0:0.0856:0.1704:0.744	.	189	O14904	WNT9A_HUMAN	R	189	ENSP00000272164:K189R	ENSP00000272164:K189R	K	-	2	0	WNT9A	226178511	1.000000	0.71417	0.983000	0.44433	0.764000	0.43329	6.177000	0.71961	0.661000	0.30985	0.402000	0.26972	AAG	WNT9A	-	pfam_Wnt,smart_Wnt	ENSG00000143816		0.612	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT9A	HGNC	protein_coding	OTTHUMT00000091646.1	-	0.00	78	0	T	NM_003395		228111888	-1	tier1	-	no_errors	ENST00000272164	ensembl	human	known	74_37	missense	24.07	82	26	SNP	1.000	C
XIRP2	129446	genome.wustl.edu	37	2	168115690	168115690	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:168115690G>C	ENST00000409728.1	+	11	2822	c.2733G>C	c.(2731-2733)aaG>aaC	p.K911N	XIRP2_ENST00000409605.1_Missense_Mutation_p.K656N|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.K878N|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.K911N|XIRP2_ENST00000409043.1_Missense_Mutation_p.K878N|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATTTGGAAAGGATGTTAAAC	0.348																																																	0													85.0	77.0	80.0					2																	168115690		1850	4095	5945	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2733G>C	2.37:g.168115690G>C	ENSP00000386619:p.Lys911Asn		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K911N	ENST00000409728.1	37	c.2733	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655538	0.47467	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.80909	-1.4;-1.4;-1.4;-1.4;-1.43	5.78	-2.76	0.05896	.	.	.	.	.	T	0.54127	0.1839	.	.	.	0.09310	N	0.999999	B;B	0.17268	0.021;0.021	B;B	0.16722	0.016;0.016	T	0.45527	-0.9255	8	0.07030	T	0.85	.	5.1881	0.15195	0.3808:0.0:0.3234:0.2959	.	878;911	A4UGR9-4;A4UGR9-6	.;.	N	878;911;878;911;656	ENSP00000386454:K878N;ENSP00000386619:K911N;ENSP00000386724:K878N;ENSP00000415541:K911N;ENSP00000386981:K656N	ENSP00000386454:K878N	K	+	3	2	XIRP2	167823936	0.066000	0.20996	0.056000	0.19401	0.356000	0.29392	0.006000	0.13152	-0.319000	0.08652	-0.226000	0.12346	AAG	XIRP2	-	NULL	ENSG00000163092		0.348	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	-	0.00	83	0	G	NM_152381		168115690	+1	tier1	-	no_errors	ENST00000420519	ensembl	human	known	74_37	missense	16.98	88	18	SNP	0.002	C
ZNF441	126068	genome.wustl.edu	37	19	11891849	11891849	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr19:11891849T>G	ENST00000357901.4	+	4	1312	c.1210T>G	c.(1210-1212)Tat>Gat	p.Y404D	ZNF441_ENST00000454339.2_Missense_Mutation_p.Y337D	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAGTGATTTCTATTACTTTCG	0.373																																																	0													46.0	48.0	47.0					19																	11891849		2203	4300	6503	SO:0001583	missense	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1210T>G	19.37:g.11891849T>G	ENSP00000350576:p.Tyr404Asp			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y404D	ENST00000357901.4	37	c.1210	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	-	12.80	2.047758	0.36085	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.07327	3.2;3.2	1.06	-2.13	0.07144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.04588	0.0125	N	0.20845	0.615	0.09310	N	1	B	0.21753	0.06	B	0.24848	0.056	T	0.40664	-0.9551	9	0.62326	D	0.03	.	0.7202	0.00939	0.4709:0.1558:0.1622:0.2111	.	404	Q8N8Z8	ZN441_HUMAN	D	360;404;337	ENSP00000350576:Y404D;ENSP00000403738:Y337D	ENSP00000350576:Y404D	Y	+	1	0	ZNF441	11752849	0.000000	0.05858	0.000000	0.03702	0.931000	0.56810	-0.368000	0.07543	-1.624000	0.01556	0.248000	0.18094	TAT	ZNF441	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197044		0.373	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	-	0.00	51	0	T	NM_152355		11891849	+1	tier1	-	no_errors	ENST00000357901	ensembl	human	known	74_37	missense	25.37	50	17	SNP	0.000	G
ZNF479	90827	genome.wustl.edu	37	7	57187818	57187818	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr7:57187818C>T	ENST00000331162.4	-	5	1574	c.1304G>A	c.(1303-1305)aGa>aAa	p.R435K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTGTAGGGTCTCTCTCCAGT	0.438																																																	0													9.0	8.0	8.0					7																	57187818		1573	3581	5154	SO:0001583	missense	0			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1304G>A	7.37:g.57187818C>T	ENSP00000333776:p.Arg435Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R435K	ENST00000331162.4	37	c.1304	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.091812	0.00364	.	.	ENSG00000185177	ENST00000331162	T	0.12361	2.69	0.955	-1.91	0.07641	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	N	0.01522	-0.82	0.20764	N	0.99985	B	0.06786	0.001	B	0.06405	0.002	T	0.37220	-0.9715	9	0.02654	T	1	.	5.9969	0.19499	0.0:0.2446:0.0:0.7554	.	435	Q96JC4	ZN479_HUMAN	K	435	ENSP00000333776:R435K	ENSP00000333776:R435K	R	-	2	0	ZNF479	57191760	0.604000	0.26932	0.002000	0.10522	0.002000	0.02628	-0.010000	0.12743	-1.413000	0.02027	-1.417000	0.01113	AGA	ZNF479	-	pfscan_Znf_C2H2	ENSG00000185177		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1		0.00	65	0	C	XM_291202		57187818	-1			no_errors	ENST00000331162	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.990	T
