#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_EVS_AA	i_EVS_All	i_EVS_EA	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ALPK1	80216	genome.wustl.edu	37	4	113362126	113362126	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr4:113362126C>G	ENST00000458497.1	+	15	3871	c.3592C>G	c.(3592-3594)Cac>Gac	p.H1198D	ALPK1_ENST00000177648.9_Missense_Mutation_p.H1198D|ALPK1_ENST00000504176.2_Missense_Mutation_p.H1120D	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1198	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCCCCAGATTCACTCCGTTGA	0.378																																						dbGAP											0													109.0	113.0	112.0					4																	113362126		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3592C>G	4.37:g.113362126C>G	ENSP00000398048:p.His1198Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.H1198D	ENST00000458497.1	37	c.3592	CCDS3697.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.170810	0.94807	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.09911	2.93;2.93;2.93	5.84	5.84	0.93424	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	M	0.91872	3.25	0.58432	D	0.999999	D;D;D	0.65815	0.982;0.995;0.986	P;D;P	0.63283	0.79;0.913;0.866	T	0.50972	-0.8764	10	0.87932	D	0	-12.1351	20.1379	0.98040	0.0:1.0:0.0:0.0	.	1120;1120;1198	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	D	1198;1198;1120	ENSP00000398048:H1198D;ENSP00000177648:H1198D;ENSP00000426044:H1120D	ENSP00000177648:H1198D	H	+	1	0	ALPK1	113581575	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.980000	0.76160	2.779000	0.95612	0.655000	0.94253	CAC	ALPK1	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000073331		0.378	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	193	0.00	0	C	NM_025144		113362126	113362126	+1	no_errors	ENST00000177648	ensembl	human	known	69_37n	missense	139	19.65	34	SNP	1.000	G
ANAPC1	64682	genome.wustl.edu	37	2	112566736	112566736	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr2:112566736C>T	ENST00000341068.3	-	29	4392	c.3620G>A	c.(3619-3621)gGa>gAa	p.G1207E		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1207					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AAGTAGCAGTCCAATGCTTGT	0.398																																						dbGAP											0													3.0	2.0	3.0					2																	112566736		1264	2608	3872	-	-	-	SO:0001583	missense	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.3620G>A	2.37:g.112566736C>T	ENSP00000339109:p.Gly1207Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3H8|Q9BSE6|Q9H8D0	Nonsense_Mutation	SNP	NULL	p.W741*	ENST00000341068.3	37	c.2223	CCDS2093.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.813606|4.813606	0.90790|0.90790	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	T|.	0.36520|.	1.25|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.000000|.	0.37437|.	U|.	0.002094|.	D|.	0.85478|.	0.5706|.	M|M	0.91459|0.91459	3.21|3.21	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|.	0.88781|.	0.3271|.	10|.	0.87932|.	D|.	0|.	-17.1805|-17.1805	18.0978|18.0978	0.89496|0.89496	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1207|.	Q9H1A4|.	APC1_HUMAN|.	E|X	1207|741	ENSP00000339109:G1207E|.	ENSP00000339109:G1207E|.	G|W	-|-	2|3	0|0	ANAPC1|ANAPC1	112283207|112283207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.651000|7.651000	0.83577|0.83577	2.491000|2.491000	0.84063|0.84063	0.563000|0.563000	0.77884|0.77884	GGA|TGG	ANAPC1	-	NULL	ENSG00000153107		0.398	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	124	0.00	0	C	NM_022662		112566736	112566736	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427997	ensembl	human	novel	69_37n	nonsense	99	16.81	20	SNP	1.000	T
ARFGAP3	26286	genome.wustl.edu	37	22	43227644	43227644	+	Splice_Site	SNP	T	T	G			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr22:43227644T>G	ENST00000263245.5	-	6	697		c.e6-2		ARFGAP3_ENST00000429508.2_Splice_Site|ARFGAP3_ENST00000437119.2_Splice_Site	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3						intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GTCACTCACCTGAAACAAGGC	0.413																																					GBM(58;544 1030 21460 27159 48838)	dbGAP											0													104.0	93.0	97.0					22																	43227644		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.478-2A>C	22.37:g.43227644T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Splice_Site	SNP	-	e6-2	ENST00000263245.5	37	c.478-2	CCDS14042.1	22	.	.	.	.	.	.	.	.	.	.	T	7.397	0.631930	0.14322	.	.	ENSG00000242247	ENST00000263245;ENST00000429508;ENST00000437119;ENST00000454099	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.743	0.57264	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARFGAP3	41557588	0.999000	0.42202	0.790000	0.31976	0.023000	0.10783	4.188000	0.58351	1.849000	0.53698	0.459000	0.35465	.	ARFGAP3	-	-	ENSG00000242247		0.413	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP3	HGNC	protein_coding	OTTHUMT00000319747.2	123	0.00	0	T	NM_014570	Intron	43227644	43227644	-1	no_errors	ENST00000263245	ensembl	human	known	69_37n	splice_site	86	30.65	38	SNP	0.984	G
BBS7	55212	genome.wustl.edu	37	4	122776652	122776652	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr4:122776652C>A	ENST00000264499.4	-	6	776	c.593G>T	c.(592-594)gGa>gTa	p.G198V	BBS7_ENST00000506636.1_Missense_Mutation_p.G198V	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	198					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACCGCCATTTCCATTGTGTAG	0.353									Bardet-Biedl syndrome																													dbGAP											0													122.0	122.0	122.0					4																	122776652		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.593G>T	4.37:g.122776652C>A	ENSP00000264499:p.Gly198Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.G198V	ENST00000264499.4	37	c.593	CCDS3724.1	4	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720536	0.68959	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.80994	-1.44;-1.44	5.08	5.08	0.68730	WD40 repeat-like-containing domain (1);	0.135352	0.53938	D	0.000060	T	0.82245	0.4995	M	0.68317	2.08	0.80722	D	1	D	0.54964	0.969	P	0.48921	0.595	T	0.79741	-0.1676	10	0.16420	T	0.52	-15.0923	17.4513	0.87593	0.0:1.0:0.0:0.0	.	198	Q8IWZ6	BBS7_HUMAN	V	198	ENSP00000264499:G198V;ENSP00000423626:G198V	ENSP00000264499:G198V	G	-	2	0	BBS7	122996102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.104000	0.64584	2.358000	0.79984	0.650000	0.86243	GGA	BBS7	-	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	ENSG00000138686		0.353	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	185	0.00	0	C			122776652	122776652	-1	no_errors	ENST00000264499	ensembl	human	known	69_37n	missense	140	23.91	44	SNP	1.000	A
BCAT2	587	genome.wustl.edu	37	19	49310293	49310293	+	Silent	SNP	C	C	G			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr19:49310293C>G	ENST00000316273.6	-	2	75	c.63G>C	c.(61-63)ctG>ctC	p.L21L	BCAT2_ENST00000601496.1_5'UTR|BCAT2_ENST00000402551.1_5'UTR|BCAT2_ENST00000598162.1_Silent_p.L21L|BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000599246.1_Intron|BCAT2_ENST00000597011.1_5'UTR	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	21					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	TGGGACCACACAGAAGCCAAG	0.587																																						dbGAP											0													70.0	65.0	66.0					19																	49310293		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.63G>C	19.37:g.49310293C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Silent	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.L21	ENST00000316273.6	37	c.63	CCDS12735.1	19																																																																																			BCAT2	-	NULL	ENSG00000105552		0.587	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAT2	HGNC	protein_coding	OTTHUMT00000466202.1	77	0.00	0	C			49310293	49310293	-1	no_errors	ENST00000316273	ensembl	human	known	69_37n	silent	67	27.17	25	SNP	0.739	G
CACNA1G	8913	genome.wustl.edu	37	17	48668853	48668853	+	Silent	SNP	C	C	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr17:48668853C>A	ENST00000359106.5	+	11	2511	c.2511C>A	c.(2509-2511)cgC>cgA	p.R837R	CACNA1G_ENST00000358244.5_Silent_p.R837R|CACNA1G_ENST00000510366.1_Silent_p.R837R|CACNA1G_ENST00000360761.4_Silent_p.R837R|CACNA1G_ENST00000515765.1_Silent_p.R837R|CACNA1G_ENST00000507896.1_Silent_p.R837R|CACNA1G_ENST00000352832.5_Silent_p.R837R|CACNA1G_ENST00000514181.1_Silent_p.R837R|CACNA1G_ENST00000514079.1_Silent_p.R837R|CACNA1G_ENST00000442258.2_Silent_p.R837R|CACNA1G_ENST00000505165.1_Silent_p.R837R|CACNA1G_ENST00000507336.1_Silent_p.R837R|CACNA1G_ENST00000354983.4_Silent_p.R837R|CACNA1G_ENST00000510115.1_Silent_p.R837R|CACNA1G_ENST00000416767.4_Silent_p.R837R|CACNA1G_ENST00000515411.1_Silent_p.R837R|CACNA1G_ENST00000514717.1_Silent_p.R837R|CACNA1G_ENST00000502264.1_Silent_p.R837R|CACNA1G_ENST00000512389.1_Silent_p.R837R|CACNA1G_ENST00000513964.1_Silent_p.R837R|CACNA1G_ENST00000507609.1_Silent_p.R837R|CACNA1G_ENST00000515165.1_Silent_p.R837R|CACNA1G_ENST00000503485.1_Silent_p.R837R|CACNA1G_ENST00000507510.2_Silent_p.R837R|CACNA1G_ENST00000429973.2_Silent_p.R837R|CACNA1G_ENST00000513689.2_Silent_p.R837R	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	837					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGACCTTCCGCCTGATGCGTG	0.677																																						dbGAP											0													39.0	43.0	42.0					17																	48668853		2191	4280	6471	-	-	-	SO:0001819	synonymous_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2511C>A	17.37:g.48668853C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.R837	ENST00000359106.5	37	c.2511	CCDS45730.1	17																																																																																			CACNA1G	-	pfam_Ion_trans_dom	ENSG00000006283		0.677	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	67	0.00	0	C	NM_018896		48668853	48668853	+1	no_errors	ENST00000359106	ensembl	human	known	69_37n	silent	38	19.15	9	SNP	1.000	A
CHD8	57680	genome.wustl.edu	37	14	21862192	21862192	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr14:21862192G>T	ENST00000557364.1	-	32	6025	c.5762C>A	c.(5761-5763)cCc>cAc	p.P1921H	CHD8_ENST00000399982.2_Missense_Mutation_p.P1921H|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.P1642H|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1921					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCACCATTTGGGCAATTCAGG	0.552																																						dbGAP											0													46.0	46.0	46.0					14																	21862192		1899	4117	6016	-	-	-	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5762C>A	14.37:g.21862192G>T	ENSP00000451601:p.Pro1921His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P1921H	ENST00000557364.1	37	c.5762	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966299	0.74131	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.90261	-2.64;-2.64;-2.64	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.95686	0.8597	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95822	0.8850	10	0.87932	D	0	-13.9533	18.1345	0.89614	0.0:0.0:1.0:0.0	.	1642	Q9HCK8-2	.	H	1642;1921;1641;1921	ENSP00000406288:P1642H;ENSP00000382863:P1921H;ENSP00000451601:P1921H	ENSP00000262707:P1641H	P	-	2	0	CHD8	20932032	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.657000	0.98554	2.816000	0.96949	0.563000	0.77884	CCC	CHD8	-	NULL	ENSG00000100888		0.552	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	42	0.00	0	G	NM_020920		21862192	21862192	-1	no_errors	ENST00000399982	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	1.000	T
CLEC10A	10462	genome.wustl.edu	37	17	6978532	6978532	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr17:6978532C>A	ENST00000254868.4	-	9	1120	c.792G>T	c.(790-792)aaG>aaT	p.K264N	CLEC10A_ENST00000576617.1_3'UTR|CLEC10A_ENST00000416562.2_Missense_Mutation_p.K237N|CLEC10A_ENST00000571664.1_Missense_Mutation_p.K240N	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	264	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GCTGGCCTGGCTTCCAGTTCC	0.597																																						dbGAP											0													34.0	34.0	34.0					17																	6978532		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"""C-type lectin domain containing"", ""CD molecules"""	16916	protein-coding gene	gene with protein product	"""macrophage lectin 2 (calcium dependent)"""	605999	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"""	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.792G>T	17.37:g.6978532C>A	ENSP00000254868:p.Lys264Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8J8|Q14538|Q6PIW3	Missense_Mutation	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.K264N	ENST00000254868.4	37	c.792	CCDS11087.1	17	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123844	0.56613	.	.	ENSG00000132514	ENST00000254868;ENST00000416562	T	0.16743	2.32	4.82	-9.65	0.00537	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.877750	0.02375	N	0.078187	T	0.05273	0.0140	N	0.05050	-0.12	0.09310	N	1	P;P	0.45902	0.837;0.868	B;B	0.42462	0.388;0.299	T	0.43360	-0.9396	10	0.06494	T	0.89	.	1.5847	0.02641	0.4251:0.1543:0.0905:0.3301	.	264;240	Q8IUN9;Q8IUN9-2	CLC10_HUMAN;.	N	264;240	ENSP00000254868:K264N	ENSP00000254868:K264N	K	-	3	2	CLEC10A	6919256	0.000000	0.05858	0.000000	0.03702	0.987000	0.75469	-2.218000	0.01219	-1.980000	0.00990	-0.142000	0.14014	AAG	CLEC10A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000132514		0.597	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	CLEC10A	HGNC	protein_coding	OTTHUMT00000439837.2	33	0.00	0	C	NM_006344		6978532	6978532	-1	no_errors	ENST00000254868	ensembl	human	known	69_37n	missense	11	33.33	6	SNP	0.000	A
CUBN	8029	genome.wustl.edu	37	10	16893319	16893322	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	ACAG	ACAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr10:16893319_16893322delACAG	ENST00000377833.4	-	60	9640_9643	c.9575_9578delCTGT	c.(9574-9579)cctgtafs	p.PV3192fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3192	CUB 24. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.V3193L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACTTTGTTTACAGGTGCAATTAT	0.377																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9575_9578delCTGT	10.37:g.16893319_16893322delACAG	ENSP00000367064:p.Pro3192fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.P3192fs	ENST00000377833.4	37	c.9578_9575	CCDS7113.1	10																																																																																			CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.377	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	232	0.00	0	ACAG	NM_001081		16893319	16893322	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	frame_shift_del	164	18.93	39	DEL	0.575:0.554:0.546:0.993	-
DCAF17	80067	genome.wustl.edu	37	2	172336674	172336674	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr2:172336674A>C	ENST00000375255.3	+	13	1720	c.1393A>C	c.(1393-1395)Agc>Cgc	p.S465R	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.S398R	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	465					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTACTTAAAAGCATTCCACT	0.388																																						dbGAP											0													117.0	115.0	116.0					2																	172336674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.1393A>C	2.37:g.172336674A>C	ENSP00000364404:p.Ser465Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	NULL	p.S465R	ENST00000375255.3	37	c.1393	CCDS2243.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.0|27.0	4.789423|4.789423	0.90367|0.90367	.|.	.|.	ENSG00000115827|ENSG00000115827	ENST00000339506;ENST00000431110|ENST00000375255;ENST00000539783;ENST00000429466	.|T;T	.|0.44482	.|0.92;0.93	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.231628	.|0.53938	.|D	.|0.000047	T|T	0.37461|0.37461	0.1004|0.1004	L|L	0.41236|0.41236	1.265|1.265	0.46954|0.46954	D|D	0.999263|0.999263	.|B;B	.|0.29301	.|0.241;0.234	.|B;B	.|0.30855	.|0.121;0.099	T|T	0.11941|0.11941	-1.0567|-1.0567	6|10	0.87932|0.24483	D|T	0|0.36	-13.116|-13.116	16.4447|16.4447	0.83919|0.83919	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|398;465	.|F5H7W1;Q5H9S7	.|.;DCA17_HUMAN	N|R	215;166|465;398;215	.|ENSP00000364404:S465R;ENSP00000442238:S398R	ENSP00000342160:K215N|ENSP00000364404:S465R	K|S	+|+	3|1	2|0	DCAF17|DCAF17	172044920|172044920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.920000|8.920000	0.92779|0.92779	2.284000|2.284000	0.76573|0.76573	0.528000|0.528000	0.53228|0.53228	AAA|AGC	DCAF17	-	NULL	ENSG00000115827		0.388	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF17	HGNC	protein_coding	OTTHUMT00000255342.2	373	0.00	0	A	NM_025000		172336674	172336674	+1	no_errors	ENST00000375255	ensembl	human	known	69_37n	missense	266	22.22	76	SNP	1.000	C
DCAF8L2	347442	genome.wustl.edu	37	X	27765438	27765438	+	Silent	SNP	G	G	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chrX:27765438G>A	ENST00000451261.2	+	5	825	c.426G>A	c.(424-426)gaG>gaA	p.E142E		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	142	Glu-rich.									central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggaggaggaggaggaggaag	0.592																																						dbGAP											0													16.0	15.0	15.0					X																	27765438		692	1590	2282	-	-	-	SO:0001819	synonymous_variant	0				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.426G>A	X.37:g.27765438G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXH9|J3KT06	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E142	ENST00000451261.2	37	c.426	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL	ENSG00000189186		0.592	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	25	0.00	0	G	XM_293354		27765438	27765438	+1	no_errors	ENST00000451261	ensembl	human	known	69_37n	silent	19	23.08	6	SNP	0.000	A
DDX11	1663	genome.wustl.edu	37	12	31256888	31256888	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr12:31256888G>A	ENST00000407793.2	+	27	3085	c.2834G>A	c.(2833-2835)aGa>aAa	p.R945K	DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.R945K|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	945					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCCAGGAGGAGAGTGTGGAGT	0.602										Multiple Myeloma(12;0.14)																												dbGAP											0													28.0	40.0	36.0					12																	31256888		1324	2304	3628	-	-	-	SO:0001583	missense	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2834G>A	12.37:g.31256888G>A	ENSP00000384703:p.Arg945Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.R945K	ENST00000407793.2	37	c.2834	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	G	1.444	-0.566764	0.03910	.	.	ENSG00000013573	ENST00000407793;ENST00000545668	T;T	0.72394	-0.65;-0.65	1.21	-1.29	0.09288	.	.	.	.	.	T	0.46852	0.1414	N	0.14661	0.345	0.09310	N	0.999999	B	0.12630	0.006	B	0.04013	0.001	T	0.22312	-1.0220	8	.	.	.	.	6.8966	0.24259	0.0:0.5304:0.4696:0.0	.	945	Q96FC9	DDX11_HUMAN	K	945	ENSP00000384703:R945K;ENSP00000440402:R945K	.	R	+	2	0	DDX11	31148155	0.008000	0.16893	0.000000	0.03702	0.048000	0.14542	0.177000	0.16801	-0.402000	0.07633	0.416000	0.27883	AGA	DDX11	-	NULL	ENSG00000013573		0.602	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	121	0.00	0	G	NM_030653		31256888	31256888	+1	no_errors	ENST00000407793	ensembl	human	known	69_37n	missense	73	29.81	31	SNP	0.000	A
DLG1	1739	genome.wustl.edu	37	3	196857476	196857476	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr3:196857476C>A	ENST00000419354.1	-	12	1472	c.1186G>T	c.(1186-1188)Gat>Tat	p.D396Y	DLG1_ENST00000443183.1_Missense_Mutation_p.D280Y|DLG1_ENST00000448528.2_Missense_Mutation_p.D396Y|DLG1_ENST00000357674.4_Missense_Mutation_p.D363Y|DLG1_ENST00000346964.2_Missense_Mutation_p.D396Y|DLG1_ENST00000452595.1_Missense_Mutation_p.D280Y|DLG1_ENST00000314062.3_Missense_Mutation_p.D345Y|DLG1_ENST00000392382.2_Missense_Mutation_p.D363Y|DLG1_ENST00000422288.1_Missense_Mutation_p.D345Y|DLG1_ENST00000450955.1_Missense_Mutation_p.D363Y			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	396	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TAAACAAAATCAGATGTGTTC	0.343																																						dbGAP											0													170.0	152.0	158.0					3																	196857476		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1186G>T	3.37:g.196857476C>A	ENSP00000407531:p.Asp396Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.D396Y	ENST00000419354.1	37	c.1186	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600592	0.87055	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.65	5.65	0.86999	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.80764	0.963;0.993;0.988;0.988;0.988;0.994;0.98	T	0.67325	-0.5699	10	0.87932	D	0	.	18.7045	0.91632	0.0:1.0:0.0:0.0	.	363;280;280;280;363;396;396	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	Y	396;396;363;396;345;396;280;345;396;280;363;363;205	ENSP00000345731:D396Y;ENSP00000350303:D363Y;ENSP00000321087:D345Y;ENSP00000407531:D396Y;ENSP00000398939:D280Y;ENSP00000413238:D345Y;ENSP00000391732:D396Y;ENSP00000396658:D280Y;ENSP00000376187:D363Y;ENSP00000411278:D363Y;ENSP00000398702:D205Y	ENSP00000321087:D345Y	D	-	1	0	DLG1	198341873	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.445000	0.80570	2.667000	0.90743	0.455000	0.32223	GAT	DLG1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000075711		0.343	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	330	0.00	0	C	NM_004087		196857476	196857476	-1	no_errors	ENST00000346964	ensembl	human	known	69_37n	missense	222	21.83	62	SNP	1.000	A
EDEM3	80267	genome.wustl.edu	37	1	184681731	184681731	+	Splice_Site	SNP	T	T	G			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr1:184681731T>G	ENST00000318130.8	-	14	1638	c.1372A>C	c.(1372-1374)Atg>Ctg	p.M458L	EDEM3_ENST00000466392.1_5'Flank|EDEM3_ENST00000367512.3_Splice_Site_p.M415L	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	458					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAAGAATCCATTCTAAAATAA	0.259																																						dbGAP											0													28.0	28.0	28.0					1																	184681731		2181	4275	6456	-	-	-	SO:0001630	splice_region_variant	0			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1371-1A>C	1.37:g.184681731T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.M458L	ENST00000318130.8	37	c.1372	CCDS1363.2	1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.271490	0.80469	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.75704	-0.96;-0.96	5.93	4.79	0.61399	.	0.070874	0.85682	N	0.000000	D	0.82337	0.5015	M	0.85041	2.73	0.80722	D	1	P	0.49447	0.924	P	0.50754	0.649	D	0.84437	0.0580	10	0.66056	D	0.02	.	13.3222	0.60438	0.0:0.0:0.1319:0.8681	.	458	Q9BZQ6	EDEM3_HUMAN	L	458;415	ENSP00000318147:M458L;ENSP00000356482:M415L	ENSP00000318147:M458L	M	-	1	0	EDEM3	182948354	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.867000	0.87062	1.050000	0.40346	0.533000	0.62120	ATG	EDEM3	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000116406		0.259	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3	206	0.00	0	T	NM_025191	Missense_Mutation	184681731	184681731	-1	no_errors	ENST00000318130	ensembl	human	known	69_37n	missense	259	16.99	53	SNP	1.000	G
ERBB2IP	55914	genome.wustl.edu	37	5	65372231	65372231	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr5:65372231G>A	ENST00000284037.5	+	24	4440	c.4051G>A	c.(4051-4053)Gat>Aat	p.D1351N	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.D1241N|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.D1241N|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.D1310N|ERBB2IP_ENST00000503913.1_3'UTR|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.D1306N|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.D1310N|ERBB2IP_ENST00000380936.1_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.D1358N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.D1299N|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.D549N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1351	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAGACCTGATGATGATGTAAG	0.343																																						dbGAP											0													134.0	133.0	134.0					5																	65372231		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.4051G>A	5.37:g.65372231G>A	ENSP00000284037:p.Asp1351Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.D1351N	ENST00000284037.5	37	c.4051	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.357210	0.95854	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.74002	1.55;1.55;1.55;1.55;1.55;-0.8;1.55;1.55;1.55	5.42	5.42	0.78866	PDZ/DHR/GLGF (4);	0.117745	0.53938	D	0.000043	T	0.82111	0.4966	L	0.38953	1.18	0.35381	D	0.789912	D;P;D;D;P;D;D;P	0.89917	0.997;0.948;0.998;0.996;0.855;1.0;1.0;0.894	D;P;D;D;P;D;D;P	0.91635	0.992;0.705;0.917;0.917;0.528;0.999;0.998;0.607	D	0.86208	0.1623	10	0.87932	D	0	.	19.5877	0.95496	0.0:0.0:1.0:0.0	.	549;1310;1358;1358;1306;1351;1241;1310	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	N	1351;1310;549;1299;1241;1310;1306;1358;1241	ENSP00000284037:D1351N;ENSP00000370330:D1310N;ENSP00000397833:D549N;ENSP00000370326:D1299N;ENSP00000370322:D1241N;ENSP00000370325:D1310N;ENSP00000422766:D1306N;ENSP00000426632:D1358N;ENSP00000422015:D1241N	ENSP00000284037:D1351N	D	+	1	0	ERBB2IP	65407987	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	8.744000	0.91596	2.712000	0.92718	0.557000	0.71058	GAT	ERBB2IP	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000112851		0.343	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	421	0.00	0	G	NM_018695		65372231	65372231	+1	no_errors	ENST00000284037	ensembl	human	known	69_37n	missense	286	23.53	88	SNP	1.000	A
ERF	2077	genome.wustl.edu	37	19	42753286	42753286	+	Silent	SNP	G	G	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr19:42753286G>A	ENST00000222329.4	-	4	1135	c.978C>T	c.(976-978)ctC>ctT	p.L326L	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Silent_p.L251L|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	326					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CGCGGGGGCTGAGGTGGTAGT	0.687																																						dbGAP											0													43.0	50.0	47.0					19																	42753286		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.978C>T	19.37:g.42753286G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Silent	SNP	pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.L326	ENST00000222329.4	37	c.978	CCDS12600.1	19																																																																																			ERF	-	NULL	ENSG00000105722		0.687	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1	78	0.00	0	G	NM_006494		42753286	42753286	-1	no_errors	ENST00000222329	ensembl	human	known	69_37n	silent	41	31.67	19	SNP	1.000	A
GATA3	2625	genome.wustl.edu	37	10	8115982	8115983	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr10:8115982_8115983insT	ENST00000346208.3	+	6	1783_1784	c.1328_1329insT	c.(1327-1332)ggttagfs	p.*444fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.*445fs			P23771	GATA3_HUMAN	GATA binding protein 3	0					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACCGCCATGGGTTAGAGCCCTG	0.609			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1330dupT	10.37:g.8115984_8115984dupT	ENSP00000341619:p.*444fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.*445fs	ENST00000346208.3	37	c.1331_1332	CCDS7083.1	10																																																																																			GATA3	-	NULL	ENSG00000107485		0.609	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	89	0.00	0	-	NM_001002295		8115982	8115983	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	57	17.39	12	INS	1.000:0.913	T
HERC1	8925	genome.wustl.edu	37	15	64017562	64017562	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr15:64017562T>A	ENST00000443617.2	-	18	3584	c.3497A>T	c.(3496-3498)gAa>gTa	p.E1166V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1166					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGTGTCCTGTTCCTCTGGAGA	0.483																																						dbGAP											0													91.0	91.0	91.0					15																	64017562		2047	4186	6233	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3497A>T	15.37:g.64017562T>A	ENSP00000390158:p.Glu1166Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.E1166V	ENST00000443617.2	37	c.3497	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892722	0.72524	.	.	ENSG00000103657	ENST00000443617	T	0.42513	0.97	5.44	5.44	0.79542	.	0.144334	0.44097	D	0.000489	T	0.47930	0.1472	L	0.58101	1.795	0.80722	D	1	P	0.52316	0.952	P	0.46585	0.521	T	0.53906	-0.8372	10	0.87932	D	0	.	15.8085	0.78534	0.0:0.0:0.0:1.0	.	1166	Q15751	HERC1_HUMAN	V	1166	ENSP00000390158:E1166V	ENSP00000390158:E1166V	E	-	2	0	HERC1	61804615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.950000	0.87804	2.199000	0.70637	0.528000	0.53228	GAA	HERC1	-	NULL	ENSG00000103657		0.483	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	113	0.00	0	T	NM_003922		64017562	64017562	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	131	20.83	35	SNP	1.000	A
IGF2R	3482	genome.wustl.edu	37	6	160500677	160500677	+	Silent	SNP	A	A	G			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr6:160500677A>G	ENST00000356956.1	+	38	5692	c.5544A>G	c.(5542-5544)ggA>ggG	p.G1848G		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1848					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CAGAACAAGGAGGCTGTAAGG	0.577																																						dbGAP											0													116.0	96.0	103.0					6																	160500677		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5544A>G	6.37:g.160500677A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z7G9|Q96PT5	Silent	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.G1848	ENST00000356956.1	37	c.5544	CCDS5273.1	6																																																																																			IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.577	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	160	0.00	0	A	NM_000876		160500677	160500677	+1	no_errors	ENST00000356956	ensembl	human	known	69_37n	silent	114	22.45	33	SNP	0.973	G
IGSF8	93185	genome.wustl.edu	37	1	160064882	160064882	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr1:160064882A>C	ENST00000368086.1	-	2	435	c.219T>G	c.(217-219)gaT>gaG	p.D73E	IGSF8_ENST00000314485.7_Missense_Mutation_p.D73E|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	73	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGTGCAGTATCTGGGGCCT	0.587																																						dbGAP											0													74.0	72.0	73.0					1																	160064882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.219T>G	1.37:g.160064882A>C	ENSP00000357065:p.Asp73Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.D73E	ENST00000368086.1	37	c.219	CCDS1195.1	1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.450458	0.01080	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.64260	-0.09;-0.09;-0.09	5.36	-7.72	0.01250	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.340942	0.26991	N	0.021462	T	0.06462	0.0166	N	0.05280	-0.08	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40831	-0.9542	10	0.02654	T	1	-1.7249	0.2814	0.00245	0.3576:0.1545:0.222:0.2658	.	73	Q969P0	IGSF8_HUMAN	E	73	ENSP00000316664:D73E;ENSP00000357065:D73E;ENSP00000397464:D73E	ENSP00000316664:D73E	D	-	3	2	IGSF8	158331506	0.000000	0.05858	0.035000	0.18076	0.086000	0.17979	-0.463000	0.06696	-1.080000	0.03109	-0.445000	0.05633	GAT	IGSF8	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000162729		0.587	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF8	HGNC	protein_coding	OTTHUMT00000060636.1	68	0.00	0	A	NM_052868		160064882	160064882	-1	no_errors	ENST00000314485	ensembl	human	known	69_37n	missense	50	23.08	15	SNP	0.001	C
JARID2	3720	genome.wustl.edu	37	6	15374373	15374373	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr6:15374373C>T	ENST00000341776.2	+	2	315	c.71C>T	c.(70-72)tCa>tTa	p.S24L	JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	24					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATTCCGTGGTCAGAAGAACGG	0.423																																						dbGAP											0													221.0	212.0	215.0					6																	15374373		2203	4300	6503	-	-	-	SO:0001583	missense	0			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.71C>T	6.37:g.15374373C>T	ENSP00000341280:p.Ser24Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.S24L	ENST00000341776.2	37	c.71	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.194909	0.94960	.	.	ENSG00000008083	ENST00000341776	T	0.43688	0.94	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	L	0.53249	1.67	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.57312	-0.7833	10	0.66056	D	0.02	-3.8485	18.4212	0.90591	0.0:1.0:0.0:0.0	.	24	Q92833	JARD2_HUMAN	L	24	ENSP00000341280:S24L	ENSP00000341280:S24L	S	+	2	0	JARID2	15482352	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.339000	0.79563	0.655000	0.94253	TCA	JARID2	-	NULL	ENSG00000008083		0.423	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	362	0.00	0	C	NM_004973		15374373	15374373	+1	no_errors	ENST00000341776	ensembl	human	known	69_37n	missense	250	23.31	76	SNP	1.000	T
KIAA1919	91749	genome.wustl.edu	37	6	111587599	111587599	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr6:111587599T>G	ENST00000368847.4	+	4	1187	c.834T>G	c.(832-834)ttT>ttG	p.F278L		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	278					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GGGGGACATTTGCAGCCTGCA	0.463																																						dbGAP											0													83.0	87.0	85.0					6																	111587599		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.834T>G	6.37:g.111587599T>G	ENSP00000357840:p.Phe278Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.F278L	ENST00000368847.4	37	c.834	CCDS5090.1	6	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956472	0.73902	.	.	ENSG00000173214	ENST00000368847	T	0.57107	0.42	6.05	-0.634	0.11516	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	M	0.79693	2.465	0.51767	D	0.999935	D	0.56746	0.977	D	0.73380	0.98	T	0.61148	-0.7121	10	0.41790	T	0.15	-27.9877	10.9286	0.47205	0.0:0.278:0.0:0.722	.	278	Q5TF39	NAGT1_HUMAN	L	278	ENSP00000357840:F278L	ENSP00000357840:F278L	F	+	3	2	KIAA1919	111694292	1.000000	0.71417	0.959000	0.39883	0.698000	0.40448	0.529000	0.23019	-0.309000	0.08779	0.523000	0.50628	TTT	KIAA1919	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000173214		0.463	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1	239	0.83	2	T	NM_153369		111587599	111587599	+1	no_errors	ENST00000368847	ensembl	human	known	69_37n	missense	172	24.56	56	SNP	0.998	G
KRTAP9-7	100505724	genome.wustl.edu	37	17	39432019	39432019	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr17:39432019G>A	ENST00000391354.1	+	1	109	c.70G>A	c.(70-72)Gtg>Atg	p.V24M		NM_001277332.1	NP_001264261.1	A8MTY7	KRA97_HUMAN	keratin associated protein 9-7	24	17 X 5 AA repeats of C-C-[VGSREQH]- [SQTPN]-[STPAI].					keratin filament (GO:0045095)				ovary(1)	1						GCCCACCACTGTGACCACCTG	0.617																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AC006070	CCDS59287.1	17q21.2	2013-06-25			ENSG00000180386	ENSG00000180386		"""Keratin associated proteins"""	18915	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 1"""	KRTAP9L1			Standard	NM_001277332		Approved	KAP9.7	uc031rah.1	A8MTY7	OTTHUMG00000133605	ENST00000391354.1:c.70G>A	17.37:g.39432019G>A	ENSP00000375149:p.Val24Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.V24M	ENST00000391354.1	37	c.70	CCDS59287.1	17	.	.	.	.	.	.	.	.	.	.	.	6.093	0.385523	0.11524	.	.	ENSG00000180386	ENST00000391354	T	0.01438	4.89	1.81	-0.642	0.11486	.	.	.	.	.	T	0.01489	0.0048	L	0.32530	0.975	0.09310	N	1	.	.	.	.	.	.	T	0.47995	-0.9073	7	0.40728	T	0.16	.	4.3297	0.11057	0.1663:0.2366:0.5971:0.0	.	.	.	.	M	24	ENSP00000375149:V24M	ENSP00000375149:V24M	V	+	1	0	KRTAP9-7	36685545	0.638000	0.27225	0.016000	0.15963	0.045000	0.14185	0.872000	0.28037	-0.099000	0.12263	0.430000	0.28490	GTG	KRTAP9-7	-	NULL	ENSG00000180386		0.617	KRTAP9-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-7	HGNC	protein_coding	OTTHUMT00000257713.1	126	0.79	1	G	XM_003118738		39432019	39432019	+1	no_errors	ENST00000391354	ensembl	human	known	69_37n	missense	125	25.60	43	SNP	0.028	A
KPNB1	3837	genome.wustl.edu	37	17	45754386	45754386	+	Splice_Site	SNP	G	G	C			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr17:45754386G>C	ENST00000290158.4	+	17	2403	c.1996G>C	c.(1996-1998)Gtt>Ctt	p.V666L	KPNB1_ENST00000540627.1_Splice_Site_p.V521L|KPNB1_ENST00000535458.2_Splice_Site_p.V521L|KPNB1_ENST00000537679.1_Splice_Site_p.V450L	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	666					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TTCTTGGCAGGTTTGTTTGGC	0.453																																						dbGAP											0													113.0	105.0	108.0					17																	45754386		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1996-1G>C	17.37:g.45754386G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.V666L	ENST00000290158.4	37	c.1996	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114679	0.56505	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.31	5.31	0.75309	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	L	0.52126	1.63	0.41066	D	0.985418	P;P	0.49185	0.92;0.851	P;B	0.48227	0.571;0.233	T	0.73369	-0.4004	8	.	.	.	-15.9625	18.9759	0.92736	0.0:0.0:1.0:0.0	.	450;666	F5H4R7;Q14974	.;IMB1_HUMAN	L	521;666;521;450	ENSP00000438253:V521L;ENSP00000290158:V666L;ENSP00000438964:V521L;ENSP00000445006:V450L	.	V	+	1	0	KPNB1	43109385	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.699000	0.98703	2.496000	0.84212	0.557000	0.71058	GTT	KPNB1	-	superfamily_ARM-type_fold	ENSG00000108424		0.453	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	HGNC	protein_coding	OTTHUMT00000089755.2	355	0.00	0	G	NM_002265	Missense_Mutation	45754386	45754386	+1	no_errors	ENST00000290158	ensembl	human	known	69_37n	missense	303	23.68	94	SNP	1.000	C
LAS1L	81887	genome.wustl.edu	37	X	64734716	64734716	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chrX:64734716T>A	ENST00000374811.3	-	13	2105	c.2065A>T	c.(2065-2067)Aca>Tca	p.T689S	LAS1L_ENST00000374807.5_Missense_Mutation_p.T672S|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374804.5_Missense_Mutation_p.T630S	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	689					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GTCTTGCATGTTGAGGGTTCC	0.567																																						dbGAP											0													72.0	55.0	61.0					X																	64734716		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.2065A>T	X.37:g.64734716T>A	ENSP00000363944:p.Thr689Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	pfam_Las1	p.T689S	ENST00000374811.3	37	c.2065	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	t	0.540	-0.854002	0.02630	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.15	-3.05	0.05396	.	1.643330	0.04225	N	0.334160	T	0.19046	0.0457	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.12013	0.005;0.002;0.003;0.005	B;B;B;B	0.12156	0.002;0.004;0.001;0.007	T	0.11567	-1.0582	9	0.14656	T	0.56	.	0.3305	0.00317	0.3836:0.2243:0.1458:0.2464	.	630;672;689;202	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2;B3KNR6	.;.;LAS1L_HUMAN;.	S	672;689;630	.	ENSP00000363937:T630S	T	-	1	0	LAS1L	64651441	0.047000	0.20315	0.004000	0.12327	0.700000	0.40528	0.306000	0.19279	-0.273000	0.09246	0.347000	0.21830	ACA	LAS1L	-	NULL	ENSG00000001497		0.567	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	80	0.00	0	T	NM_031206		64734716	64734716	-1	no_errors	ENST00000374811	ensembl	human	known	69_37n	missense	46	28.12	18	SNP	0.000	A
LINC00479	150135	genome.wustl.edu	37	21	43133777	43133777	+	lincRNA	SNP	G	G	T			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr21:43133777G>T	ENST00000412102.1	-	0	485				LINC00112_ENST00000432830.1_RNA	NR_027272.1		Q96M42	CU129_HUMAN	long intergenic non-protein coding RNA 479																		TGAGGCCAGGGCTTGAAGGAG	0.582																																						dbGAP											0													46.0	58.0	54.0					21																	43133777		692	1591	2283	-	-	-			0			AK057397		21q22.3	2012-10-12	2011-08-31	2011-08-31	ENSG00000236384	ENSG00000236384		"""Long non-coding RNAs"""	19727	non-coding RNA	RNA, long non-coding			"""chromosome 21 open reading frame 129"""	C21orf129			Standard	NR_027272		Approved	PRED76, FLJ32835	uc010got.1	Q96M42	OTTHUMG00000086773		21.37:g.43133777G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSJ3	RNA	SNP	-	NULL	ENST00000412102.1	37	NULL		21																																																																																			LINC00479	-	-	ENSG00000236384		0.582	LINC00479-001	KNOWN	basic	lincRNA	LINC00479	HGNC	lincRNA	OTTHUMT00000195207.3	31	0.00	0	G			43133777	43133777	-1	no_errors	ENST00000412102	ensembl	human	known	69_37n	rna	29	12.12	4	SNP	0.002	T
LRIG3	121227	genome.wustl.edu	37	12	59283825	59283825	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr12:59283825G>C	ENST00000320743.3	-	5	898	c.612C>G	c.(610-612)atC>atG	p.I204M	LRIG3_ENST00000379141.4_Missense_Mutation_p.I144M	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	204					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GGATAGCTGAGATTCGGTTCC	0.443			T	ROS1	NSCLC																																	dbGAP		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													258.0	254.0	256.0					12																	59283825		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.612C>G	12.37:g.59283825G>C	ENSP00000326759:p.Ile204Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXL7|Q8NC72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I204M	ENST00000320743.3	37	c.612	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249002	0.39797	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.63255	-0.03;-0.03;0.23	5.44	1.22	0.21188	.	0.208186	0.23668	N	0.045750	T	0.64994	0.2649	M	0.82193	2.58	0.49051	D	0.999746	B;P	0.39624	0.133;0.681	B;P	0.46629	0.366;0.522	T	0.58725	-0.7586	9	.	.	.	.	3.6811	0.08310	0.2967:0.0:0.4233:0.28	.	144;204	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	M	144;204;111	ENSP00000368436:I144M;ENSP00000326759:I204M;ENSP00000449109:I111M	.	I	-	3	3	LRIG3	57570092	0.795000	0.28851	0.013000	0.15412	0.989000	0.77384	-0.125000	0.10579	-0.061000	0.13110	0.563000	0.77884	ATC	LRIG3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000139263		0.443	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	450	0.22	1	G	NM_153377		59283825	59283825	-1	no_errors	ENST00000320743	ensembl	human	known	69_37n	missense	364	26.17	129	SNP	0.976	C
LRRC16B	90668	genome.wustl.edu	37	14	24538364	24538364	+	Missense_Mutation	SNP	G	G	A	rs576168984		TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr14:24538364G>A	ENST00000342740.5	+	39	4155	c.4001G>A	c.(4000-4002)cGg>cAg	p.R1334Q	CPNE6_ENST00000216775.2_5'Flank|CPNE6_ENST00000397016.2_5'Flank|CPNE6_ENST00000537691.1_5'Flank|LRRC16B_ENST00000334420.7_Missense_Mutation_p.R387Q	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1334						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GATCCAGGCCGGCGGACTGCC	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16223	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													37.0	40.0	39.0					14																	24538364		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.4001G>A	14.37:g.24538364G>A	ENSP00000340467:p.Arg1334Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R1334Q	ENST00000342740.5	37	c.4001	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308641	0.81247	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.60672	0.17;0.17	5.18	5.18	0.71444	.	0.000000	0.45361	D	0.000368	T	0.61160	0.2325	N	0.19112	0.55	0.32691	N	0.51414	D;D	0.71674	0.998;0.997	D;D	0.75484	0.986;0.968	T	0.66052	-0.6019	10	0.36615	T	0.2	-21.2991	14.0607	0.64797	0.0:0.0:1.0:0.0	.	387;1334	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	Q	1334;387	ENSP00000340467:R1334Q;ENSP00000334701:R387Q	ENSP00000334701:R387Q	R	+	2	0	LRRC16B	23608204	0.982000	0.34865	0.988000	0.46212	0.958000	0.62258	4.882000	0.63121	2.688000	0.91661	0.655000	0.94253	CGG	LRRC16B	-	NULL	ENSG00000186648		0.612	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	24	0.00	0	G	NM_138360		24538364	24538364	+1	no_errors	ENST00000342740	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	0.968	A
MAN2B1	4125	genome.wustl.edu	37	19	12768878	12768878	+	Splice_Site	SNP	G	G	C			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr19:12768878G>C	ENST00000456935.2	-	10	1348	c.1308C>G	c.(1306-1308)ctC>ctG	p.L436L	MAN2B1_ENST00000495617.1_Intron|MAN2B1_ENST00000221363.4_Splice_Site_p.L435L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	436					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACACTTACTGAGGGGTGCAC	0.582																																						dbGAP											0													22.0	26.0	25.0					19																	12768878		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1309+1C>G	19.37:g.12768878G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.L436	ENST00000456935.2	37	c.1308	CCDS32919.1	19																																																																																			MAN2B1	-	pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom	ENSG00000104774		0.582	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	14	0.00	0	G		Silent	12768878	12768878	-1	no_errors	ENST00000456935	ensembl	human	known	69_37n	silent	12	33.33	6	SNP	0.998	C
MAN2B1	4125	genome.wustl.edu	37	19	12769137	12769137	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr19:12769137G>C	ENST00000456935.2	-	9	1171	c.1131C>G	c.(1129-1131)ttC>ttG	p.F377L	MAN2B1_ENST00000495617.1_Intron|MAN2B1_ENST00000221363.4_Missense_Mutation_p.F376L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	377					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGTAAGGGAAGAAGTCGTCAT	0.612																																						dbGAP											0													67.0	70.0	69.0					19																	12769137		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1131C>G	19.37:g.12769137G>C	ENSP00000395473:p.Phe377Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.F377L	ENST00000456935.2	37	c.1131	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966940	0.74131	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.81247	-1.47;-1.47	5.33	4.29	0.51040	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.44688	D	0.000434	D	0.89660	0.6779	M	0.90198	3.095	0.54753	D	0.999981	D;P	0.71674	0.998;0.619	D;P	0.72338	0.977;0.759	D	0.89913	0.4053	10	0.87932	D	0	-21.881	8.248	0.31700	0.1801:0.0:0.8199:0.0	.	376;377	G5E928;O00754	.;MA2B1_HUMAN	L	377;316;376	ENSP00000395473:F377L;ENSP00000221363:F376L	ENSP00000221363:F376L	F	-	3	2	MAN2B1	12630137	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	4.568000	0.60857	1.258000	0.44101	0.460000	0.39030	TTC	MAN2B1	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000104774		0.612	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	60	0.00	0	G			12769137	12769137	-1	no_errors	ENST00000456935	ensembl	human	known	69_37n	missense	40	23.08	12	SNP	1.000	C
MAN2B1	4125	genome.wustl.edu	37	19	12769247	12769247	+	Silent	SNP	G	G	A	rs372217078		TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr19:12769247G>A	ENST00000456935.2	-	8	1144	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	MAN2B1_ENST00000495617.1_Intron|MAN2B1_ENST00000221363.4_Silent_p.L367L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	368					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AATACCAGGTGAGGTTGGCCT	0.602																																						dbGAP											0													63.0	58.0	60.0					19																	12769247		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1104C>T	19.37:g.12769247G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.L368	ENST00000456935.2	37	c.1104	CCDS32919.1	19																																																																																			MAN2B1	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000104774		0.602	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	80	0.00	0	G			12769247	12769247	-1	no_errors	ENST00000456935	ensembl	human	known	69_37n	silent	60	28.57	24	SNP	1.000	A
MCM4	4173	genome.wustl.edu	37	8	48878885	48878885	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr8:48878885A>T	ENST00000262105.2	+	8	1180	c.971A>T	c.(970-972)gAg>gTg	p.E324V	MCM4_ENST00000523944.1_Missense_Mutation_p.E324V	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	324					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CGCATTGCAGAGCCCAGTGTG	0.637																																						dbGAP											0													55.0	49.0	51.0					8																	48878885		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.971A>T	8.37:g.48878885A>T	ENSP00000262105:p.Glu324Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEH1|Q99658	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase	p.E324V	ENST00000262105.2	37	c.971	CCDS6143.1	8	.	.	.	.	.	.	.	.	.	.	A	16.72	3.200555	0.58126	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.04454	3.62;3.62	5.61	5.61	0.85477	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.89840	3.065	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.11616	-1.0580	10	0.87932	D	0	-35.6068	16.0967	0.81129	1.0:0.0:0.0:0.0	.	324;324	B3KMX0;P33991	.;MCM4_HUMAN	V	324;324;311;284	ENSP00000430194:E324V;ENSP00000262105:E324V	ENSP00000262105:E324V	E	+	2	0	MCM4	49041438	1.000000	0.71417	0.997000	0.53966	0.227000	0.25037	8.742000	0.91588	2.263000	0.75096	0.379000	0.24179	GAG	MCM4	-	superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase	ENSG00000104738		0.637	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM4	HGNC	protein_coding	OTTHUMT00000377791.1	19	0.00	0	A	NM_005914		48878885	48878885	+1	no_errors	ENST00000262105	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	1.000	T
MMAA	166785	genome.wustl.edu	37	4	146560633	146560633	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr4:146560633G>T	ENST00000281317.5	+	2	1552	c.342G>T	c.(340-342)agG>agT	p.R114S	MMAA_ENST00000541599.1_5'UTR|RP11-557J10.4_ENST00000504555.1_RNA	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	114					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCACAGCAGGAAAAAGGAGT	0.398																																						dbGAP											0													64.0	66.0	65.0					4																	146560633		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.342G>T	4.37:g.146560633G>T	ENSP00000281317:p.Arg114Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX40|Q495G7	Missense_Mutation	SNP	pfam_ArgK,pfam_Cbl_biosynth_CobW-like,tigrfam_ArgK	p.R114S	ENST00000281317.5	37	c.342	CCDS3766.1	4	.	.	.	.	.	.	.	.	.	.	g	14.88	2.666126	0.47677	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.91124	-2.79	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.86447	0.5935	L	0.39326	1.205	0.80722	D	1	B;B	0.29232	0.098;0.238	B;B	0.27715	0.048;0.082	T	0.82703	-0.0326	10	0.11794	T	0.64	-24.8083	19.6002	0.95559	0.0:0.0:1.0:0.0	.	114;114	Q8IVH4;D6RIS5	MMAA_HUMAN;.	S	114	ENSP00000281317:R114S	ENSP00000281317:R114S	R	+	3	2	MMAA	146780083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.237000	0.65360	2.691000	0.91804	0.655000	0.94253	AGG	MMAA	-	pfam_ArgK,tigrfam_ArgK	ENSG00000151611		0.398	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMAA	HGNC	protein_coding	OTTHUMT00000364668.2	125	0.00	0	G			146560633	146560633	+1	no_errors	ENST00000281317	ensembl	human	known	69_37n	missense	84	26.96	31	SNP	1.000	T
MUC16	94025	genome.wustl.edu	37	19	9091544	9091544	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr19:9091544A>G	ENST00000397910.4	-	1	474	c.271T>C	c.(271-273)Tct>Cct	p.S91P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	91	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTCCTCTAGAGGTTGACTCA	0.532																																						dbGAP											0													138.0	136.0	136.0					19																	9091544		1985	4158	6143	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.271T>C	19.37:g.9091544A>G	ENSP00000381008:p.Ser91Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S91P	ENST00000397910.4	37	c.271	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	3.640	-0.073708	0.07184	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.01	-1.73	0.08081	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.15719	0.014	B	0.08055	0.003	T	0.46205	-0.9208	8	0.87932	D	0	.	2.1646	0.03833	0.4205:0.3268:0.2527:0.0	.	91	B5ME49	.	P	91	ENSP00000381008:S91P	ENSP00000381008:S91P	S	-	1	0	MUC16	8952544	0.002000	0.14202	0.002000	0.10522	0.263000	0.26337	-0.210000	0.09345	-0.709000	0.05008	0.260000	0.18958	TCT	MUC16	-	NULL	ENSG00000181143		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	164	0.00	0	A	NM_024690		9091544	9091544	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	105	24.46	34	SNP	0.002	G
NIPAL4	348938	genome.wustl.edu	37	5	156899862	156899862	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr5:156899862C>A	ENST00000311946.7	+	6	1411	c.1295C>A	c.(1294-1296)cCc>cAc	p.P432H	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.P413H	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	432						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GCCCCGGAACCCACTGTTATT	0.498																																						dbGAP											0													39.0	39.0	39.0					5																	156899862		1908	4122	6030	-	-	-	SO:0001583	missense	0			AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1295C>A	5.37:g.156899862C>A	ENSP00000311687:p.Pro432His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.P432H	ENST00000311946.7	37	c.1295	CCDS47328.1	5	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911412	0.52439	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.90385	-2.62;-2.66	5.93	5.07	0.68467	.	0.534254	0.23038	N	0.052658	D	0.91613	0.7350	L	0.29908	0.895	0.33820	D	0.628964	D;D	0.76494	0.999;0.999	D;P	0.65443	0.935;0.862	D	0.94040	0.7308	10	0.48119	T	0.1	-41.4964	15.2287	0.73369	0.0:0.9327:0.0:0.0673	.	413;432	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	H	413;432	ENSP00000406456:P413H;ENSP00000311687:P432H	ENSP00000311687:P432H	P	+	2	0	NIPAL4	156832440	0.985000	0.35326	0.968000	0.41197	0.351000	0.29236	2.719000	0.47244	1.522000	0.49001	0.561000	0.74099	CCC	NIPAL4	-	NULL	ENSG00000172548		0.498	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL4	HGNC	protein_coding	OTTHUMT00000373789.1	42	0.00	0	C	NM_001099287		156899862	156899862	+1	no_errors	ENST00000311946	ensembl	human	known	69_37n	missense	33	34.62	18	SNP	0.991	A
NR2C2	7182	genome.wustl.edu	37	3	15065706	15065706	+	Silent	SNP	G	G	A	rs529430729		TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr3:15065706G>A	ENST00000425241.1	+	7	1151	c.789G>A	c.(787-789)acG>acA	p.T263T	NR2C2_ENST00000393102.3_Silent_p.T263T|NR2C2_ENST00000406272.2_Silent_p.T263T|NR2C2_ENST00000323373.6_Silent_p.T282T			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	263					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTGGCCACGGATTCTAAGG	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		21443	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													180.0	138.0	152.0					3																	15065706		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.789G>A	3.37:g.15065706G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3H5|B6ZGT8|P55092	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.T282	ENST00000425241.1	37	c.846		3																																																																																			NR2C2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000177463		0.458	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	143	0.00	0	G	NM_003298		15065706	15065706	+1	no_errors	ENST00000323373	ensembl	human	known	69_37n	silent	81	24.30	26	SNP	0.230	A
TENM1	10178	genome.wustl.edu	37	X	123630873	123630873	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chrX:123630873C>T	ENST00000371130.3	-	20	3751	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000422452.2_Missense_Mutation_p.E1230K	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1230					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TACCTTAATTCCAAAATACTA	0.393																																						dbGAP											0													47.0	49.0	48.0					X																	123630873		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3688G>A	X.37:g.123630873C>T	ENSP00000360171:p.Glu1230Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD	p.E1230K	ENST00000371130.3	37	c.3688	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701744	0.68501	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90261	-2.59;-2.64	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.055648	0.64402	D	0.000001	D	0.86451	0.5936	L	0.43152	1.355	0.80722	D	1	P;B;B	0.39665	0.682;0.022;0.033	B;B;B	0.31390	0.129;0.009;0.019	D	0.86138	0.1579	10	0.38643	T	0.18	.	18.7655	0.91871	0.0:1.0:0.0:0.0	.	1229;1230;1230	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	1230	ENSP00000360171:E1230K;ENSP00000403954:E1230K	ENSP00000360171:E1230K	E	-	1	0	ODZ1	123458554	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.376000	0.81061	0.600000	0.82982	GAA	ODZ1	-	NULL	ENSG00000009694		0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	HGNC	protein_coding	OTTHUMT00000058985.1	92	0.00	0	C	NM_014253		123630873	123630873	-1	no_errors	ENST00000422452	ensembl	human	known	69_37n	missense	56	30.00	24	SNP	1.000	T
OR13C8	138802	genome.wustl.edu	37	9	107331596	107331596	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr9:107331596A>G	ENST00000335040.1	+	1	148	c.148A>G	c.(148-150)Atc>Gtc	p.I50V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CTCAGTTATCATCTTTGATTC	0.443																																						dbGAP											0													335.0	311.0	319.0					9																	107331596		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.148A>G	9.37:g.107331596A>G	ENSP00000334068:p.Ile50Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVG0|Q96R44	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I50V	ENST00000335040.1	37	c.148	CCDS35090.1	9	.	.	.	.	.	.	.	.	.	.	A	6.369	0.436127	0.12104	.	.	ENSG00000186943	ENST00000335040	T	0.02916	4.11	4.97	1.09	0.20402	GPCR, rhodopsin-like superfamily (1);	0.211980	0.33005	N	0.005385	T	0.01489	0.0048	N	0.16233	0.39	0.09310	N	0.999996	B	0.12013	0.005	B	0.10450	0.005	T	0.47446	-0.9117	10	0.15066	T	0.55	.	2.1073	0.03694	0.4442:0.3163:0.0866:0.1529	.	50	Q8NGS7	O13C8_HUMAN	V	50	ENSP00000334068:I50V	ENSP00000334068:I50V	I	+	1	0	OR13C8	106371417	0.000000	0.05858	0.963000	0.40424	0.924000	0.55760	-2.012000	0.01451	0.082000	0.17018	0.533000	0.62120	ATC	OR13C8	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000186943		0.443	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C8	HGNC	protein_coding	OTTHUMT00000053480.1	589	0.17	1	A			107331596	107331596	+1	no_errors	ENST00000335040	ensembl	human	known	69_37n	missense	408	28.94	167	SNP	0.046	G
OR13C8	138802	genome.wustl.edu	37	9	107332384	107332385	+	Nonsense_Mutation	DNP	TA	TA	AG			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	T|A	T|A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr9:107332384_107332385TA>AG	ENST00000335040.1	+	1	936_937	c.936_937TA>AG	c.(934-939)tgTAgg>tgAGgg	p.312_313CR>*G		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACATACTGTGTAGGAAAAACTT	0.347																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	Exception_encountered	9.37:g.107332384_107332385delinsAG	ENSP00000334068:p.C312_R313delins*G	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVG0|Q96R44	Nonsense_Mutation|Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.C312*|p.R313G	ENST00000335040.1	37	c.936|c.937	CCDS35090.1	9																																																																																			OR13C8	-	NULL	ENSG00000186943		0.347	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C8	HGNC	protein_coding	OTTHUMT00000053480.1	51	0.00	0	T|A			107332384|107332385	107332384|107332385	+1	no_errors	ENST00000335040	ensembl	human	known	69_37n	nonsense|missense	44|45	29.03|28.57	18	SNP	0.000|0.126	A|G
OR8H2	390151	genome.wustl.edu	37	11	55872586	55872586	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr11:55872586A>G	ENST00000313503.1	+	1	68	c.68A>G	c.(67-69)gAg>gGg	p.E23G		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTTTCTGAAGAGATCCAGATG	0.428										HNSCC(53;0.14)																												dbGAP											0													242.0	234.0	237.0					11																	55872586		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.68A>G	11.37:g.55872586A>G	ENSP00000323982:p.Glu23Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFC1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E23G	ENST00000313503.1	37	c.68	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	a	2.766	-0.256804	0.05829	.	.	ENSG00000181767	ENST00000313503	T	0.00444	7.4	3.74	-0.22	0.13130	.	0.125696	0.36665	N	0.002463	T	0.00271	0.0008	L	0.42487	1.325	0.09310	N	1	B	0.22080	0.064	B	0.21151	0.033	T	0.48163	-0.9059	10	0.56958	D	0.05	.	3.3582	0.07177	0.5477:0.0:0.1689:0.2834	.	23	Q8N162	OR8H2_HUMAN	G	23	ENSP00000323982:E23G	ENSP00000323982:E23G	E	+	2	0	OR8H2	55629162	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.074000	0.11450	-0.158000	0.11040	-0.683000	0.03753	GAG	OR8H2	-	NULL	ENSG00000181767		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	402	0.25	1	A	NM_001005200		55872586	55872586	+1	no_errors	ENST00000313503	ensembl	human	known	69_37n	missense	319	22.20	91	SNP	0.000	G
PALM3	342979	genome.wustl.edu	37	19	14168164	14168164	+	Splice_Site	DEL	T	T	-			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr19:14168164delT	ENST00000340790.4	-	2	124	c.125delA	c.(124-126)aag>ag	p.K42fs		NM_001145028.1	NP_001138500.1	A6NDB9	PALM3_HUMAN	paralemmin 3	42					negative regulation of cytokine-mediated signaling pathway (GO:0001960)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)			endometrium(1)|kidney(2)|pancreas(1)|skin(1)	5						GCCCCCAACCTTGAGACGCTC	0.677																																						dbGAP											0													5.0	9.0	8.0					19																	14168164		664	1549	2213	-	-	-	SO:0001630	splice_region_variant	0				CCDS46001.1	19p13.12	2010-04-15			ENSG00000187867	ENSG00000187867			33274	protein-coding gene	gene with protein product							Standard	NM_001145028		Approved		uc010xnk.1	A6NDB9		ENST00000340790.4:c.126+1A>-	19.37:g.14168164delT		Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.K42fs	ENST00000340790.4	37	c.125	CCDS46001.1	19																																																																																			PALM3	-	NULL	ENSG00000187867		0.677	PALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM3	HGNC	protein_coding	OTTHUMT00000458540.1	8	0.00	0	T	NM_001145028	Frame_Shift_Del	14168164	14168164	-1	no_errors	ENST00000340790	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	1.000	-
PDE4DIP	9659	genome.wustl.edu	37	1	144882723	144882723	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr1:144882723T>G	ENST00000369354.3	-	24	3485	c.3296A>C	c.(3295-3297)cAg>cCg	p.Q1099P	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1099P|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q1236P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q1236P|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1099					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAACTCAGCCTGAAGGCTACT	0.483			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													270.0	255.0	260.0					1																	144882723		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3296A>C	1.37:g.144882723T>G	ENSP00000358360:p.Gln1099Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.Q1099P	ENST00000369354.3	37	c.3296	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239944	0.58995	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01629	4.72;4.72;4.72;4.72	5.84	4.72	0.59763	.	.	.	.	.	T	0.01092	0.0036	L	0.51422	1.61	0.80722	D	1	D	0.56521	0.976	P	0.44597	0.454	T	0.63301	-0.6668	9	0.39692	T	0.17	.	5.4194	0.16392	0.0:0.1431:0.0:0.8569	.	1099	Q5VU43	MYOME_HUMAN	P	1099;1099;1236;1236	ENSP00000358360:Q1099P;ENSP00000358363:Q1099P;ENSP00000435654:Q1236P;ENSP00000358366:Q1236P	ENSP00000358360:Q1099P	Q	-	2	0	PDE4DIP	143594080	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.769000	0.26604	2.241000	0.73720	0.533000	0.62120	CAG	PDE4DIP	-	NULL	ENSG00000178104		0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	713	0.00	0	T	NM_022359		144882723	144882723	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	missense	580	11.04	72	SNP	1.000	G
PGLS	25796	genome.wustl.edu	37	19	17627089	17627089	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr19:17627089G>A	ENST00000252603.2	+	2	440	c.396G>A	c.(394-396)caG>caA	p.Q132Q	CTD-3131K8.3_ENST00000596192.1_RNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	132					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						AGCTGAGACAGGTGAGCCCCG	0.627																																						dbGAP											0													61.0	49.0	53.0					19																	17627089		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.396+1G>A	19.37:g.17627089G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	tigrfam_6-phosphogluconolactonase_DevB	p.Q132	ENST00000252603.2	37	c.396	CCDS12361.1	19																																																																																			PGLS	-	tigrfam_6-phosphogluconolactonase_DevB	ENSG00000130313		0.627	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLS	HGNC	protein_coding	OTTHUMT00000464154.1	49	0.00	0	G		Silent	17627089	17627089	+1	no_errors	ENST00000252603	ensembl	human	known	69_37n	silent	39	23.53	12	SNP	1.000	A
PRDM15	63977	genome.wustl.edu	37	21	43291676	43291676	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr21:43291676delC	ENST00000269844.3	-	4	578	c.468delG	c.(466-468)gggfs	p.G156fs	AP001619.3_ENST00000458654.1_RNA|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	156					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(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACACCTCATTCCCTAGAGATG	0.582																																						dbGAP											0													144.0	117.0	126.0					21																	43291676		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.468delG	21.37:g.43291676delC	ENSP00000269844:p.Gly156fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.N157fs	ENST00000269844.3	37	c.468	CCDS13676.1	21																																																																																			PRDM15	-	NULL	ENSG00000141956		0.582	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		85	0.00	0	C	NM_022115		43291676	43291676	-1	no_errors	ENST00000269844	ensembl	human	known	69_37n	frame_shift_del	55	25.33	19	DEL	0.000	-
PTPRU	10076	genome.wustl.edu	37	1	29652166	29652166	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr1:29652166C>A	ENST00000345512.3	+	31	4463	c.4334C>A	c.(4333-4335)tCa>tAa	p.S1445*	PTPRU_ENST00000460170.2_Nonsense_Mutation_p.S1439*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.S1432*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.S1441*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.S1435*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.S1441*	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1445					canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGGCTGGAGTCAAGATAGCGG	0.612																																						dbGAP											0													124.0	111.0	116.0					1																	29652166		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.4334C>A	1.37:g.29652166C>A	ENSP00000334941:p.Ser1445*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S1445*	ENST00000345512.3	37	c.4334	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	41	9.004930	0.99033	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	.	.	.	3.73	2.79	0.32731	.	0.824402	0.10070	U	0.719765	.	.	.	.	.	.	0.36286	D	0.856096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0915	0.30803	0.0:0.8832:0.0:0.1168	.	.	.	.	X	1445;1435;1441;1441;1432;1439	.	.	S	+	2	0	PTPRU	29524753	0.000000	0.05858	0.994000	0.49952	0.988000	0.76386	0.098000	0.15189	0.884000	0.36064	0.561000	0.74099	TCA	PTPRU	-	NULL	ENSG00000060656		0.612	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	148	0.00	0	C			29652166	29652166	+1	no_errors	ENST00000345512	ensembl	human	known	69_37n	nonsense	92	29.23	38	SNP	0.974	A
RAB3GAP2	25782	genome.wustl.edu	37	1	220355687	220355687	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr1:220355687A>C	ENST00000358951.2	-	21	2338	c.2222T>G	c.(2221-2223)tTt>tGt	p.F741C		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	741					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)		CTTCCAAAAAAAGAAACTACC	0.388																																						dbGAP											0													75.0	77.0	76.0					1																	220355687		2203	4300	6503	-	-	-	SO:0001583	missense	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.2222T>G	1.37:g.220355687A>C	ENSP00000351832:p.Phe741Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.F741C	ENST00000358951.2	37	c.2222	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.484138	0.84854	.	.	ENSG00000118873	ENST00000358951	T	0.31769	1.48	5.82	5.82	0.92795	.	0.100361	0.64402	D	0.000001	T	0.46658	0.1404	L	0.40543	1.245	0.48632	D	0.999685	D	0.76494	0.999	D	0.65443	0.935	T	0.43442	-0.9391	10	0.72032	D	0.01	.	16.182	0.81915	1.0:0.0:0.0:0.0	.	741	Q9H2M9	RBGPR_HUMAN	C	741	ENSP00000351832:F741C	ENSP00000351832:F741C	F	-	2	0	RAB3GAP2	218422310	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	8.124000	0.89588	2.222000	0.72286	0.528000	0.53228	TTT	RAB3GAP2	-	NULL	ENSG00000118873		0.388	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	137	0.00	0	A	NM_012414		220355687	220355687	-1	no_errors	ENST00000358951	ensembl	human	known	69_37n	missense	197	15.45	36	SNP	1.000	C
RIF1	55183	genome.wustl.edu	37	2	152299782	152299782	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr2:152299782G>A	ENST00000243326.5	+	16	2227	c.1744G>A	c.(1744-1746)Gct>Act	p.A582T	RIF1_ENST00000430328.2_Missense_Mutation_p.A582T|RIF1_ENST00000453091.2_Missense_Mutation_p.A582T|RIF1_ENST00000428287.2_Missense_Mutation_p.A582T|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Missense_Mutation_p.A582T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GGGAACTCCAGCTTTGTTCTT	0.279																																						dbGAP											0													71.0	73.0	72.0					2																	152299782		2202	4292	6494	-	-	-	SO:0001583	missense	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1744G>A	2.37:g.152299782G>A	ENSP00000243326:p.Ala582Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.A582T	ENST00000243326.5	37	c.1744	CCDS2194.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.642517|4.642517	0.87859|0.87859	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T|.	0.24723|.	1.85;1.84;1.84;1.85;1.84|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73666|0.73666	0.3616|0.3616	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.997;0.998|.	T|T	0.73116|0.73116	-0.4084|-0.4084	10|5	0.59425|.	D|.	0.04|.	-15.7368|-15.7368	17.3108|17.3108	0.87210|0.87210	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	582;582|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	T|N	582|573	ENSP00000390181:A582T;ENSP00000414615:A582T;ENSP00000415691:A582T;ENSP00000243326:A582T;ENSP00000416123:A582T|.	ENSP00000243326:A582T|.	A|S	+|+	1|2	0|0	RIF1|RIF1	152008028|152008028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.284000|6.284000	0.72652|0.72652	2.412000|2.412000	0.81896|0.81896	0.655000|0.655000	0.94253|0.94253	GCT|AGC	RIF1	-	NULL	ENSG00000080345		0.279	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	346	0.00	0	G			152299782	152299782	+1	no_errors	ENST00000243326	ensembl	human	known	69_37n	missense	208	24.36	67	SNP	1.000	A
RPAP2	79871	genome.wustl.edu	37	1	92789908	92789908	+	Silent	SNP	C	C	T			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr1:92789908C>T	ENST00000610020.1	+	8	1540	c.1431C>T	c.(1429-1431)acC>acT	p.T477T		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	477					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		GTGAAGAAACCACCAAATCAC	0.393																																						dbGAP											0													45.0	46.0	46.0					1																	92789908		2122	4267	6389	-	-	-	SO:0001819	synonymous_variant	0			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1431C>T	1.37:g.92789908C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JKB5|Q49AS7|Q9H8Y2	Silent	SNP	pfam_DUF408	p.T477	ENST00000610020.1	37	c.1431	CCDS740.1	1																																																																																			RPAP2	-	NULL	ENSG00000122484		0.393	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	57	0.00	0	C	NM_024813		92789908	92789908	+1	no_errors	ENST00000370343	ensembl	human	known	69_37n	silent	24	46.67	21	SNP	0.034	T
RXRG	6258	genome.wustl.edu	37	1	165398094	165398094	+	Silent	SNP	T	T	G			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr1:165398094T>G	ENST00000359842.5	-	2	461	c.159A>C	c.(157-159)ccA>ccC	p.P53P		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	53	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TCAGAGTCCGTGGGGCACTCA	0.617																																						dbGAP											0													62.0	59.0	60.0					1																	165398094		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.159A>C	1.37:g.165398094T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIP1|Q6IBU7	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF	p.P53	ENST00000359842.5	37	c.159	CCDS1248.1	1																																																																																			RXRG	-	pfam_DUF3345	ENSG00000143171		0.617	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRG	HGNC	protein_coding	OTTHUMT00000083794.2	71	0.00	0	T	NM_006917		165398094	165398094	-1	no_errors	ENST00000359842	ensembl	human	known	69_37n	silent	64	20.99	17	SNP	0.287	G
SASH1	23328	genome.wustl.edu	37	6	148867225	148867225	+	Silent	SNP	C	C	T			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr6:148867225C>T	ENST00000367467.3	+	19	3898	c.3423C>T	c.(3421-3423)gtC>gtT	p.V1141V		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1141					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGCGGGACGTCGCCGCCAACA	0.597																																						dbGAP											0													72.0	66.0	68.0					6																	148867225		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3423C>T	6.37:g.148867225C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.V1141	ENST00000367467.3	37	c.3423	CCDS5212.1	6																																																																																			SASH1	-	NULL	ENSG00000111961		0.597	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	51	0.00	0	C	NM_015278		148867225	148867225	+1	no_errors	ENST00000367467	ensembl	human	known	69_37n	silent	26	27.03	10	SNP	0.102	T
SEC31A	22872	genome.wustl.edu	37	4	83795849	83795849	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr4:83795849G>A	ENST00000395310.2	-	6	736	c.554C>T	c.(553-555)gCa>gTa	p.A185V	SEC31A_ENST00000508479.1_Missense_Mutation_p.A185V|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505984.1_Missense_Mutation_p.A185V|SEC31A_ENST00000355196.2_Missense_Mutation_p.A185V|SEC31A_ENST00000505472.1_Missense_Mutation_p.A185V|SEC31A_ENST00000432794.1_Missense_Mutation_p.A185V|SEC31A_ENST00000448323.1_Missense_Mutation_p.A185V|SEC31A_ENST00000513858.1_Missense_Mutation_p.A185V|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000311785.7_Missense_Mutation_p.A185V|SEC31A_ENST00000508502.1_Missense_Mutation_p.A185V|SEC31A_ENST00000326950.5_Missense_Mutation_p.A185V|SEC31A_ENST00000509142.1_Missense_Mutation_p.A185V|SEC31A_ENST00000500777.2_Missense_Mutation_p.A185V|SEC31A_ENST00000348405.4_Missense_Mutation_p.A185V|SEC31A_ENST00000443462.2_Missense_Mutation_p.A180V	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	185	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACTGGCTGATGCTAAAATATG	0.413																																						dbGAP											0													115.0	119.0	117.0					4																	83795849		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.554C>T	4.37:g.83795849G>A	ENSP00000378721:p.Ala185Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A185V	ENST00000395310.2	37	c.554	CCDS3596.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.815232	0.96982	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000505984;ENST00000508479;ENST00000503058	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65916	1.55;1.55;1.55;1.43;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;-0.18	5.05	5.05	0.67936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80171	0.4574	M	0.77406	2.37	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.991;0.974;0.994;0.987;0.996;0.994;0.979;0.997;0.994	T	0.80977	-0.1141	10	0.51188	T	0.08	-15.1528	18.5892	0.91202	0.0:0.0:1.0:0.0	.	180;185;185;185;185;185;185;185;185	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979	.;.;.;.;.;.;.;.;SC31A_HUMAN	V	185;185;185;180;185;185;185;185;185;185;185;185;185;185;185;156	ENSP00000337602:A185V;ENSP00000426886:A185V;ENSP00000378721:A185V;ENSP00000408027:A180V;ENSP00000426569:A185V;ENSP00000407944:A185V;ENSP00000400926:A185V;ENSP00000325087:A185V;ENSP00000309070:A185V;ENSP00000421633:A185V;ENSP00000421464:A185V;ENSP00000424635:A185V;ENSP00000347329:A185V;ENSP00000424451:A185V;ENSP00000425999:A185V;ENSP00000425056:A156V	ENSP00000309070:A185V	A	-	2	0	SEC31A	84014873	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.533000	0.98059	2.631000	0.89168	0.655000	0.94253	GCA	SEC31A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000138674		0.413	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	166	0.00	0	G	NM_016211		83795849	83795849	-1	no_errors	ENST00000432794	ensembl	human	known	69_37n	missense	107	20.59	28	SNP	1.000	A
SLCO5A1	81796	genome.wustl.edu	37	8	70585135	70585135	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr8:70585135T>C	ENST00000260126.4	-	10	3222	c.2516A>G	c.(2515-2517)gAg>gGg	p.E839G	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.E784G|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	839						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGCGGGGCTCTCTTCCAGCCC	0.542																																						dbGAP											0													39.0	45.0	43.0					8																	70585135		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2516A>G	8.37:g.70585135T>C	ENSP00000260126:p.Glu839Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.E839G	ENST00000260126.4	37	c.2516	CCDS6205.1	8	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055379	0.36277	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	T;T	0.47177	0.91;0.85	5.41	1.7	0.24286	.	0.617146	0.15453	N	0.261578	T	0.37210	0.0995	L	0.48642	1.525	0.32839	D	0.505084	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37753	-0.9692	10	0.56958	D	0.05	.	6.5303	0.22324	0.0:0.1369:0.1315:0.7315	.	784;839	E9PKK5;Q9H2Y9	.;SO5A1_HUMAN	G	839;784	ENSP00000260126:E839G;ENSP00000431611:E784G	ENSP00000260126:E839G	E	-	2	0	SLCO5A1	70747689	1.000000	0.71417	0.789000	0.31954	0.842000	0.47809	1.484000	0.35508	0.147000	0.19030	0.533000	0.62120	GAG	SLCO5A1	-	NULL	ENSG00000137571		0.542	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3	89	0.00	0	T	NM_030958		70585135	70585135	-1	no_errors	ENST00000260126	ensembl	human	known	69_37n	missense	59	25.32	20	SNP	0.998	C
TEX26	122046	genome.wustl.edu	37	13	31543174	31543174	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr13:31543174T>C	ENST00000380473.3	+	6	812	c.799T>C	c.(799-801)Tcc>Ccc	p.S267P	TEX26_ENST00000530916.1_Intron	NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	267																	TCAGAGTCTTTCCTACAAAGG	0.383																																						dbGAP											0													106.0	106.0	106.0					13																	31543174		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.799T>C	13.37:g.31543174T>C	ENSP00000369840:p.Ser267Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S267P	ENST00000380473.3	37	c.799	CCDS9339.1	13	.	.	.	.	.	.	.	.	.	.	T	6.211	0.407020	0.11754	.	.	ENSG00000175664	ENST00000380473	T	0.46451	0.87	5.81	3.16	0.36331	.	0.183071	0.38164	N	0.001799	T	0.31482	0.0798	L	0.52266	1.64	0.36884	D	0.889547	B	0.32693	0.38	B	0.34242	0.178	T	0.15809	-1.0424	10	0.17832	T	0.49	-17.8319	5.7301	0.18034	0.0:0.2392:0.0:0.7608	.	267	Q8N6G2	CM026_HUMAN	P	267	ENSP00000369840:S267P	ENSP00000369840:S267P	S	+	1	0	C13orf26	30441174	0.999000	0.42202	0.887000	0.34795	0.104000	0.19210	1.454000	0.35178	1.133000	0.42147	-0.256000	0.11100	TCC	TEX26	-	NULL	ENSG00000175664		0.383	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX26	HGNC	protein_coding	OTTHUMT00000044380.2	227	0.44	1	T	NM_152325		31543174	31543174	+1	no_errors	ENST00000380473	ensembl	human	known	69_37n	missense	107	33.33	54	SNP	0.982	C
TEX33	339669	genome.wustl.edu	37	22	37387521	37387521	+	Splice_Site	DEL	C	C	-			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr22:37387521delC	ENST00000405091.2	-	6	997		c.e6+1		TEX33_ENST00000381821.1_Splice_Site|TEX33_ENST00000402860.3_Splice_Site			O43247	TEX33_HUMAN	testis expressed 33																		TCCTCACTTACCCAGATCATC	0.542																																						dbGAP											0													174.0	142.0	153.0					22																	37387521		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.745+1G>-	22.37:g.37387521delC		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Splice_Site	DEL	-	e4+1	ENST00000405091.2	37	c.745+1	CCDS54524.1	22																																																																																			TEX33	-	-	ENSG00000185264		0.542	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TEX33	HGNC	protein_coding	OTTHUMT00000318778.2	198	0.00	0	C	NM_178552	Intron	37387521	37387521	-1	no_errors	ENST00000381821	ensembl	human	known	69_37n	splice_site_del	136	20.47	35	DEL	1.000	-
TRIM38	10475	genome.wustl.edu	37	6	25973465	25973465	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr6:25973465G>T	ENST00000357085.3	+	7	1302	c.826G>T	c.(826-828)Gtt>Ttt	p.V276F	TRIM38_ENST00000349458.3_Missense_Mutation_p.V276F	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	276	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TATGTGCAATGTTTCCAAGCT	0.423																																						dbGAP											0													118.0	113.0	115.0					6																	25973465		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.826G>T	6.37:g.25973465G>T	ENSP00000349596:p.Val276Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R862	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V276F	ENST00000357085.3	37	c.826	CCDS4568.1	6	.	.	.	.	.	.	.	.	.	.	g	5.734	0.319800	0.10845	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.06768	3.26;3.26;3.26	4.2	3.33	0.38152	B30.2/SPRY domain (1);	0.340255	0.21371	N	0.075630	T	0.02533	0.0077	N	0.01640	-0.785	0.23043	N	0.998385	D;D	0.60160	0.987;0.987	P;D	0.63597	0.861;0.916	T	0.39603	-0.9606	10	0.37606	T	0.19	.	7.8519	0.29459	0.1116:0.0:0.8884:0.0	.	276;276	B2R862;O00635	.;TRI38_HUMAN	F	276	ENSP00000443976:V276F;ENSP00000230099:V276F;ENSP00000349596:V276F	ENSP00000230099:V276F	V	+	1	0	TRIM38	26081444	0.803000	0.28956	0.253000	0.24343	0.110000	0.19582	1.504000	0.35726	1.351000	0.45789	0.591000	0.81541	GTT	TRIM38	-	pfscan_B30.2/SPRY	ENSG00000112343		0.423	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM38	HGNC	protein_coding	OTTHUMT00000040076.2	262	0.00	0	G			25973465	25973465	+1	no_errors	ENST00000349458	ensembl	human	known	69_37n	missense	162	27.35	61	SNP	0.350	T
ULK2	9706	genome.wustl.edu	37	17	19700727	19700727	+	Silent	SNP	G	G	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr17:19700727G>A	ENST00000395544.4	-	18	2290	c.1791C>T	c.(1789-1791)atC>atT	p.I597I	ULK2_ENST00000361658.2_Silent_p.I597I|ULK2_ENST00000580130.1_5'Flank	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	597					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GAGAGCCAATGATTGTTGGCA	0.438																																						dbGAP											0													27.0	26.0	27.0					17																	19700727		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1791C>T	17.37:g.19700727G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY69|O75119	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I597	ENST00000395544.4	37	c.1791	CCDS11213.1	17																																																																																			ULK2	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000083290		0.438	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2	41	0.00	0	G	NM_014683		19700727	19700727	-1	no_errors	ENST00000361658	ensembl	human	known	69_37n	silent	33	21.43	9	SNP	1.000	A
VIPR1	7433	genome.wustl.edu	37	3	42567473	42567473	+	Silent	SNP	G	G	T	rs17074546	byFrequency	TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr3:42567473G>T	ENST00000325123.4	+	4	500	c.387G>T	c.(385-387)gcG>gcT	p.A129A	VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000438259.2_Missense_Mutation_p.R5L|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000543411.1_Silent_p.A82A|VIPR1_ENST00000433647.1_Silent_p.A88A|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	129					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACAAGGCAGCGAGTTTGGATG	0.642																																						dbGAP											0													74.0	59.0	64.0					3																	42567473		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.387G>T	3.37:g.42567473G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1	p.R5L	ENST00000325123.4	37	c.14	CCDS2698.1	3	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876787	0.33162	.	.	ENSG00000114812	ENST00000438259	T	0.57273	0.41	3.89	-2.75	0.05914	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31998	-0.9923	7	0.72032	D	0.01	.	1.0229	0.01522	0.4622:0.1646:0.2082:0.165	.	5	B4DEB5	.	L	5	ENSP00000415371:R5L	ENSP00000415371:R5L	R	+	2	0	VIPR1	42542477	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.503000	0.06383	-0.361000	0.08125	0.462000	0.41574	CGA	VIPR1	-	NULL	ENSG00000114812		0.642	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR1	HGNC	protein_coding	OTTHUMT00000254728.4	46	0.00	0	G	NM_004624		42567473	42567473	+1	no_errors	ENST00000438259	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	0.000	T
ZNF526	116115	genome.wustl.edu	37	19	42728940	42728940	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AZ-01A-21D-A12Q-09	TCGA-BH-A0AZ-11A-22D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f	4124d527-3ea7-43d5-81b7-0fc9172be9b0	g.chr19:42728940G>A	ENST00000301215.3	+	3	610	c.385G>A	c.(385-387)Gcc>Acc	p.A129T		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CCACCAGGATGCCCACCTCCG	0.652																																						dbGAP											0													73.0	75.0	74.0					19																	42728940		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.385G>A	19.37:g.42728940G>A	ENSP00000301215:p.Ala129Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A129T	ENST00000301215.3	37	c.385	CCDS12598.1	19	.	.	.	.	.	.	.	.	.	.	G	7.205	0.594313	0.13875	.	.	ENSG00000167625	ENST00000301215	T	0.26067	1.76	4.59	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.315138	0.30311	N	0.009908	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24476	-1.0159	9	.	.	.	-14.1384	4.617	0.12432	0.0806:0.2812:0.4935:0.1448	.	129	Q8TF50	ZN526_HUMAN	T	129	ENSP00000301215:A129T	.	A	+	1	0	ZNF526	47420780	0.000000	0.05858	0.352000	0.25734	0.744000	0.42396	0.003000	0.13083	0.246000	0.21394	0.462000	0.41574	GCC	ZNF526	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167625		0.652	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF526	HGNC	protein_coding	OTTHUMT00000463681.2	30	0.00	0	G	XM_057401		42728940	42728940	+1	no_errors	ENST00000301215	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	0.057	A
