#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_ORegAnno_bin	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
ACSM2B	348158	genome.wustl.edu	37	16	20565132	20565132	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr16:20565132G>A	ENST00000329697.6	-	5	875	c.707C>T	c.(706-708)tCg>tTg	p.S236L	ACSM2B_ENST00000567001.1_Missense_Mutation_p.S236L|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S236L|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S157L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	236					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCCCAGGCTCGAGTAGGAATG	0.507																																						dbGAP											0													89.0	84.0	86.0					16																	20565132		2201	4297	6498	-	-	-	SO:0001583	missense	0			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.707C>T	16.37:g.20565132G>A	ENSP00000327453:p.Ser236Leu		Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S236L	ENST00000329697.6	37	c.707	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	G	5.155	0.214169	0.09810	.	.	ENSG00000066813	ENST00000329697	T	0.41065	1.01	3.36	1.03	0.20045	AMP-dependent synthetase/ligase (1);	2.210360	0.02346	N	0.075401	T	0.33614	0.0869	L	0.46670	1.46	0.19300	N	0.999972	P;P	0.40032	0.699;0.699	B;B	0.26614	0.071;0.071	T	0.39722	-0.9600	10	0.36615	T	0.2	-0.2976	9.93	0.41517	0.0:0.5736:0.4264:0.0	.	236;236	A8K051;Q68CK6	.;ACS2B_HUMAN	L	236	ENSP00000327453:S236L	ENSP00000327453:S236L	S	-	2	0	ACSM2B	20472633	0.127000	0.22367	0.005000	0.12908	0.003000	0.03518	1.027000	0.30115	0.700000	0.31782	0.609000	0.83330	TCG	ACSM2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066813		0.507	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	73	0.00	0	G	NM_182617		20565132	20565132	-1	no_errors	ENST00000329697	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	0.001	A
ADARB2	105	genome.wustl.edu	37	10	1284297	1284297	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr10:1284297G>T	ENST00000381312.1	-	5	1583	c.1258C>A	c.(1258-1260)Cac>Aac	p.H420N	ADARB2_ENST00000469464.1_5'Flank	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	420	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCACTGAGGTGCTCGCCGCTG	0.672																																						dbGAP											0													36.0	27.0	30.0					10																	1284297		2196	4292	6488	-	-	-	SO:0001583	missense	0			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1258C>A	10.37:g.1284297G>T	ENSP00000370713:p.His420Asn		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.H420N	ENST00000381312.1	37	c.1258	CCDS7058.1	10	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118692	0.56505	.	.	ENSG00000185736	ENST00000381312	D	0.93307	-3.2	5.7	2.43	0.29744	Adenosine deaminase/editase (3);	0.110796	0.64402	D	0.000005	D	0.87188	0.6115	L	0.31476	0.935	0.80722	D	1	B	0.16396	0.017	B	0.26614	0.071	T	0.78036	-0.2361	10	0.46703	T	0.11	-18.324	6.4333	0.21809	0.6187:0.0:0.3813:0.0	.	420	Q9NS39	RED2_HUMAN	N	420	ENSP00000370713:H420N	ENSP00000370713:H420N	H	-	1	0	ADARB2	1274297	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	2.518000	0.45537	0.224000	0.20940	0.462000	0.41574	CAC	ADARB2	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000185736		0.672	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	HGNC	protein_coding	OTTHUMT00000046426.1	15	0.00	0	G	NM_018702		1284297	1284297	-1	no_errors	ENST00000381312	ensembl	human	known	69_37n	missense	7	50.00	7	SNP	1.000	T
BAHCC1	57597	genome.wustl.edu	37	17	79409977	79409977	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr17:79409977delC	ENST00000307745.7	+	9	1602	c.1602delC	c.(1600-1602)ggcfs	p.G534fs																								CCCCGGCCGGCCCCCCAGGGG	0.687																																						dbGAP											0													12.0	16.0	15.0					17																	79409977		1849	4062	5911	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000307745.7:c.1602delC	17.37:g.79409977delC	ENSP00000303486:p.Gly534fs			Frame_Shift_Del	DEL	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P536fs	ENST00000307745.7	37	c.1602		17																																																																																			BAHCC1	-	NULL	ENSG00000171282		0.687	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		21	0.00	0	C			79409977	79409977	+1	no_errors	ENST00000307745	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	0.000	-
C10orf120	399814	genome.wustl.edu	37	10	124457832	124457833	+	Frame_Shift_Ins	INS	-	-	T	rs569498958		TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr10:124457832_124457833insT	ENST00000329446.4	-	3	455_456	c.424_425insA	c.(424-426)atafs	p.I142fs		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	142								p.I142K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGCTGTCCATATTTTTTCTAGG	0.46																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.425dupA	10.37:g.124457838_124457838dupT	ENSP00000331012:p.Ile142fs		B2RU17	Frame_Shift_Ins	INS	NULL	p.I142fs	ENST00000329446.4	37	c.425_424	CCDS31302.1	10																																																																																			C10orf120	-	NULL	ENSG00000183559		0.460	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf120	HGNC	protein_coding	OTTHUMT00000050803.1	88	0.00	0	-	NM_001010912		124457832	124457833	-1	no_errors	ENST00000329446	ensembl	human	known	69_37n	frame_shift_ins	10	54.55	12	INS	0.224:0.144	T
CACNA1C	775	genome.wustl.edu	37	12	2800273	2800273	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr12:2800273G>C	ENST00000347598.4	+	49	6469	c.6469G>C	c.(6469-6471)Ggg>Cgg	p.G2157R	CACNA1C_ENST00000399629.1_Missense_Mutation_p.G2126R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G2117R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G2109R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G2109R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G2128R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G2129R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G2150R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G2115R|CACNA1C_ENST00000399655.1_Missense_Mutation_p.G2109R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G2128R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G2117R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G2109R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G2109R|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G2180R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G2109R|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G2180R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G2134R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G2144R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G2128R|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G2144R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G2137R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2192					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGACCGAGCCGGGGGCGAAGA	0.701																																						dbGAP											0													16.0	21.0	20.0					12																	2800273		1928	4110	6038	-	-	-	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6469G>C	12.37:g.2800273G>C	ENSP00000266376:p.Gly2157Arg		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.G2180R	ENST00000347598.4	37	c.6538	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387723	0.42308	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	4.49	3.57	0.40892	.	0.998826	0.08102	N	0.997567	T	0.66137	0.2759	L	0.52573	1.65	0.26151	N	0.980149	B;P;B;B;D;P;B;B;B;B;B;P;B;B;B;B;B;B;P;B;B;P;B;B;P	0.54964	0.273;0.919;0.001;0.001;0.969;0.838;0.001;0.003;0.002;0.0;0.002;0.772;0.268;0.003;0.435;0.002;0.268;0.001;0.838;0.001;0.001;0.702;0.002;0.002;0.772	B;P;B;B;D;P;B;B;B;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B	0.64321	0.314;0.801;0.003;0.003;0.924;0.741;0.002;0.021;0.015;0.001;0.008;0.276;0.13;0.021;0.142;0.009;0.13;0.002;0.596;0.003;0.002;0.396;0.008;0.005;0.276	T	0.55010	-0.8207	10	0.38643	T	0.18	.	13.1208	0.59325	0.0:0.0:0.8387:0.1613	.	800;2150;2106;2192;2144;2128;2109;2126;2137;2109;2129;2109;2140;2157;2109;2144;2180;2117;2115;2117;2098;2128;2128;2109;2109	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	2134;2109;2109;2137;2109;2128;2128;2117;2109;2157;2129;2109;2150;2126;2144;2115;2128;2109;2180;2144;2180;2117;2010	ENSP00000336982:G2134R;ENSP00000382563:G2109R;ENSP00000382552:G2109R;ENSP00000382547:G2137R;ENSP00000382506:G2109R;ENSP00000382530:G2128R;ENSP00000382546:G2128R;ENSP00000382500:G2117R;ENSP00000382549:G2109R;ENSP00000266376:G2157R;ENSP00000382515:G2129R;ENSP00000382510:G2109R;ENSP00000341092:G2150R;ENSP00000382537:G2126R;ENSP00000329877:G2144R;ENSP00000382557:G2115R;ENSP00000385724:G2128R;ENSP00000382512:G2109R;ENSP00000382542:G2180R;ENSP00000382526:G2144R;ENSP00000385896:G2180R;ENSP00000382504:G2117R	ENSP00000323129:G2010R	G	+	1	0	CACNA1C	2670534	1.000000	0.71417	0.010000	0.14722	0.951000	0.60555	5.989000	0.70587	1.197000	0.43143	0.591000	0.81541	GGG	CACNA1C	-	NULL	ENSG00000151067		0.701	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	58	0.00	0	G	NM_000719		2800273	2800273	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	missense	25	41.86	18	SNP	0.687	C
CACNA1I	8911	genome.wustl.edu	37	22	39996592	39996592	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr22:39996592T>G	ENST00000402142.3	+	3	416	c.416T>G	c.(415-417)aTt>aGt	p.I139S	CACNA1I_ENST00000407673.1_Missense_Mutation_p.I139S|CACNA1I_ENST00000336649.4_Missense_Mutation_p.I139S|CACNA1I_ENST00000401624.1_Missense_Mutation_p.I139S|CACNA1I_ENST00000400164.3_Missense_Mutation_p.I139S|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I139S	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	139					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCCTGGGGATTTTTGGCAAG	0.557																																						dbGAP											0													90.0	88.0	89.0					22																	39996592		1935	4155	6090	-	-	-	SO:0001583	missense	0			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.416T>G	22.37:g.39996592T>G	ENSP00000385019:p.Ile139Ser		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.I139S	ENST00000402142.3	37	c.416	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598727	0.66332	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	4.71	4.71	0.59529	Ion transport (1);	0.329709	0.31747	N	0.007132	D	0.98826	0.9604	M	0.71581	2.175	0.53688	D	0.999973	P;P;P;D	0.76494	0.789;0.682;0.905;0.999	P;P;P;D	0.69824	0.636;0.625;0.742;0.966	D	0.99741	1.1015	10	0.72032	D	0.01	.	14.3329	0.66569	0.0:0.0:0.0:1.0	.	139;139;139;139	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	S	139	ENSP00000385019:I139S;ENSP00000384093:I139S;ENSP00000383887:I139S;ENSP00000385680:I139S;ENSP00000337829:I139S;ENSP00000383028:I139S	ENSP00000337829:I139S	I	+	2	0	CACNA1I	38326538	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.758000	0.85224	1.980000	0.57719	0.533000	0.62120	ATT	CACNA1I	-	pfam_Ion_trans_dom	ENSG00000100346		0.557	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	107	0.00	0	T	NM_001003406		39996592	39996592	+1	no_errors	ENST00000336649	ensembl	human	known	69_37n	missense	48	36.36	28	SNP	1.000	G
CCDC120	90060	genome.wustl.edu	37	X	48921458	48921458	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chrX:48921458C>T	ENST00000376396.3	+	5	469	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	CCDC120_ENST00000597275.1_Missense_Mutation_p.R84W|CCDC120_ENST00000603986.1_Missense_Mutation_p.R119W|CCDC120_ENST00000496529.2_Missense_Mutation_p.R84W|CCDC120_ENST00000536628.2_Missense_Mutation_p.R72W|CCDC120_ENST00000422185.2_Missense_Mutation_p.R84W	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	84										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GTTGGTCCGCCGGCGGCCCCC	0.677																																						dbGAP											0													17.0	18.0	18.0					X																	48921458		2199	4288	6487	-	-	-	SO:0001583	missense	0			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.250C>T	X.37:g.48921458C>T	ENSP00000365577:p.Arg84Trp		B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	pfam_DUF3338	p.R84W	ENST00000376396.3	37	c.250	CCDS14316.1	X	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772259	0.69992	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.6	3.67	0.42095	.	0.134965	0.33772	N	0.004578	T	0.71134	0.3304	M	0.69823	2.125	0.34943	D	0.750484	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.73708	0.966;0.981;0.966;0.966	T	0.78091	-0.2339	9	0.87932	D	0	-6.6765	9.2569	0.37588	0.4714:0.5286:0.0:0.0	.	72;119;72;84	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	W	84;84;72	.	ENSP00000365577:R84W	R	+	1	2	CCDC120	48808402	0.988000	0.35896	0.999000	0.59377	0.952000	0.60782	0.449000	0.21744	0.594000	0.29761	0.468000	0.43344	CGG	CCDC120	-	pfam_DUF3338	ENSG00000147144		0.677	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1	31	0.00	0	C	NM_033626		48921458	48921458	+1	no_errors	ENST00000422185	ensembl	human	known	69_37n	missense	10	47.37	9	SNP	1.000	T
CCDC18	343099	genome.wustl.edu	37	1	93671144	93671144	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr1:93671144T>G	ENST00000343253.7	+	8	1375	c.873T>G	c.(871-873)tgT>tgG	p.C291W	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.C291W|CCDC18_ENST00000557479.1_Missense_Mutation_p.C409W|CCDC18_ENST00000338949.4_Missense_Mutation_p.C90W			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	291										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAGAAAGGTGTGGTCTATATA	0.299																																						dbGAP											0													77.0	76.0	76.0					1																	93671144		1799	4056	5855	-	-	-	SO:0001583	missense	0					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.873T>G	1.37:g.93671144T>G	ENSP00000343377:p.Cys291Trp		Q6ZU17	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.C409W	ENST00000343253.7	37	c.1227		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.17|19.17	3.775961|3.775961	0.70107|0.70107	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64832|0.64832	0.2634|0.2634	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.64584|0.64584	-0.6373|-0.6373	9|5	0.38643|.	T|.	0.18|.	.|.	16.2194|16.2194	0.82247|0.82247	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	409|.	G3V388|.	.|.	W|G	291;291;409;90;11|345	.|.	ENSP00000344380:C90W|.	C|V	+|+	3|2	2|0	CCDC18|CCDC18	93443732|93443732	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.916000|0.916000	0.54674|0.54674	3.816000|3.816000	0.55658|0.55658	2.234000|2.234000	0.73211|0.73211	0.528000|0.528000	0.53228|0.53228	TGT|GTG	CCDC18	-	NULL	ENSG00000122483		0.299	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	56	0.00	0	T	NM_206886		93671144	93671144	+1	no_errors	ENST00000557479	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	1.000	G
CHCHD5	84269	genome.wustl.edu	37	2	113343586	113343586	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr2:113343586G>A	ENST00000324913.5	+	2	245	c.38G>A	c.(37-39)gGc>gAc	p.G13D	CHCHD5_ENST00000489052.1_3'UTR|CHCHD5_ENST00000409719.1_Missense_Mutation_p.G13D	NM_032309.2	NP_115685.1	Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	13						mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						CGCTACTGTGGCCGGGAGCTG	0.582																																						dbGAP											0													47.0	51.0	50.0					2																	113343586		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004498	CCDS2098.1	2q14.1	2012-10-15	2004-01-19	2004-01-21	ENSG00000125611	ENSG00000125611		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	17840	protein-coding gene	gene with protein product	"""mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog (S. cerevisiae)"""		"""chromosome 2 open reading frame 9"""	C2orf9		22842048	Standard	NM_032309		Approved	MGC11104, MIC14	uc002thz.1	Q9BSY4	OTTHUMG00000131312	ENST00000324913.5:c.38G>A	2.37:g.113343586G>A	ENSP00000325655:p.Gly13Asp		Q585T4|Q8N8C4	Missense_Mutation	SNP	pfam_CHCH	p.G13D	ENST00000324913.5	37	c.38	CCDS2098.1	2	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906180	0.52333	.	.	ENSG00000125611	ENST00000324913;ENST00000409719	T;T	0.17054	2.3;2.3	5.64	4.75	0.60458	.	0.472228	0.21184	N	0.078780	T	0.09949	0.0244	N	0.19112	0.55	0.26755	N	0.970121	B;B	0.29988	0.264;0.003	B;B	0.23852	0.049;0.006	T	0.20075	-1.0286	10	0.15952	T	0.53	-20.1562	11.9335	0.52860	0.0839:0.0:0.9161:0.0	.	13;13	Q8N8C4;Q9BSY4	.;CHCH5_HUMAN	D	13	ENSP00000325655:G13D;ENSP00000386994:G13D	ENSP00000325655:G13D	G	+	2	0	CHCHD5	113060057	0.996000	0.38824	0.971000	0.41717	0.951000	0.60555	4.455000	0.60075	2.833000	0.97629	0.650000	0.86243	GGC	CHCHD5	-	NULL	ENSG00000125611		0.582	CHCHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD5	HGNC	protein_coding	OTTHUMT00000254081.2	75	0.00	0	G	NM_032309		113343586	113343586	+1	no_errors	ENST00000324913	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	0.970	A
CKAP5	9793	genome.wustl.edu	37	11	46804907	46804907	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr11:46804907C>T	ENST00000529230.1	-	18	2212	c.2166G>A	c.(2164-2166)atG>atA	p.M722I	CKAP5_ENST00000312055.5_Missense_Mutation_p.M722I|CKAP5_ENST00000354558.3_Missense_Mutation_p.M722I|CKAP5_ENST00000415402.1_Missense_Mutation_p.M722I			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	722					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTGAGAAAGCCATTGACACAA	0.348																																					Ovarian(4;85 273 2202 4844 13323)	dbGAP											0													84.0	80.0	82.0					11																	46804907		2201	4299	6500	-	-	-	SO:0001583	missense	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2166G>A	11.37:g.46804907C>T	ENSP00000432768:p.Met722Ile		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.M722I	ENST00000529230.1	37	c.2166	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	C	9.798	1.179727	0.21787	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.25	4.33	0.51752	Armadillo-type fold (1);	0.279275	0.45867	D	0.000333	T	0.34919	0.0914	N	0.01874	-0.695	0.38892	D	0.957148	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.06405	0.001;0.002;0.001	T	0.15407	-1.0438	10	0.22109	T	0.4	-7.7925	14.2466	0.65993	0.0:0.8512:0.1487:0.0	.	722;722;722	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	I	722	ENSP00000432768:M722I;ENSP00000395302:M722I;ENSP00000310227:M722I;ENSP00000346566:M722I	ENSP00000310227:M722I	M	-	3	0	CKAP5	46761483	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	2.020000	0.41010	1.201000	0.43203	0.650000	0.86243	ATG	CKAP5	-	superfamily_ARM-type_fold	ENSG00000175216		0.348	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	105	0.00	0	C	NM_014756		46804907	46804907	-1	no_errors	ENST00000415402	ensembl	human	known	69_37n	missense	41	30.51	18	SNP	1.000	T
COBL	23242	genome.wustl.edu	37	7	51095731	51095731	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr7:51095731G>A	ENST00000265136.7	-	10	3227	c.3062C>T	c.(3061-3063)cCa>cTa	p.P1021L	COBL_ENST00000395542.2_Missense_Mutation_p.P1103L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1021	Poly-Pro.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGAGGGGGTGGGTCTGTACC	0.622																																					NSCLC(189;2119 2138 12223 30818 34679)	dbGAP											0													55.0	54.0	54.0					7																	51095731		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3062C>T	7.37:g.51095731G>A	ENSP00000265136:p.Pro1021Leu		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P1103L	ENST00000265136.7	37	c.3308	CCDS34637.1	7	.	.	.	.	.	.	.	.	.	.	G	9.412	1.080655	0.20309	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.12879	2.64;2.65;2.64;2.64	5.41	0.417	0.16421	.	0.719630	0.12069	N	0.502399	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.14805	0.001;0.001;0.0;0.003;0.011	B;B;B;B;B	0.16722	0.004;0.004;0.001;0.004;0.016	T	0.36383	-0.9750	10	0.36615	T	0.2	.	2.7629	0.05312	0.2116:0.1247:0.5349:0.1288	.	1021;1078;1021;1103;563	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	L	1021;913;906;1103	ENSP00000265136:P1021L;ENSP00000401204:P913L;ENSP00000413498:P906L;ENSP00000378912:P1103L	ENSP00000265136:P1021L	P	-	2	0	COBL	51063225	0.015000	0.18098	0.000000	0.03702	0.005000	0.04900	0.830000	0.27462	-0.001000	0.14495	-0.244000	0.11960	CCA	COBL	-	NULL	ENSG00000106078		0.622	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	67	0.00	0	G	NM_015198		51095731	51095731	-1	no_errors	ENST00000395542	ensembl	human	known	69_37n	missense	9	78.57	33	SNP	0.000	A
CLEC5A	23601	genome.wustl.edu	37	7	141631601	141631601	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr7:141631601G>A	ENST00000546910.1	-	6	567	c.371C>T	c.(370-372)gCt>gTt	p.A124V	CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000438351.1_Missense_Mutation_p.A101V|CLEC5A_ENST00000551012.2_Missense_Mutation_p.A101V|CLEC5A_ENST00000439991.1_Missense_Mutation_p.A20V|MGAM_ENST00000497554.1_3'UTR	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	124	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATACTTCTCAGCATCAGTTAT	0.378																																					GBM(154;1592 2613 3360 42983)	dbGAP											0													148.0	136.0	140.0					7																	141631601		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.371C>T	7.37:g.141631601G>A	ENSP00000449999:p.Ala124Val		Q52M11|Q9UKQ0	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.A124V	ENST00000546910.1	37	c.371	CCDS5870.1	7	.	.	.	.	.	.	.	.	.	.	G	7.443	0.641065	0.14386	.	.	ENSG00000258227	ENST00000546910;ENST00000551012;ENST00000439991;ENST00000438351	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.07	1.08	0.20341	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.462175	0.20486	N	0.091381	T	0.11707	0.0285	L	0.31926	0.97	0.09310	N	1	B;B;B;B	0.26512	0.001;0.02;0.151;0.095	B;B;B;B	0.11329	0.006;0.003;0.005;0.004	T	0.16748	-1.0392	10	0.39692	T	0.17	-3.3979	3.7281	0.08482	0.27:0.0:0.5567:0.1732	.	101;101;123;124	C9JPR7;Q14DL9;Q9NY25-2;Q9NY25	.;.;.;CLC5A_HUMAN	V	124;101;20;101	ENSP00000449999:A124V;ENSP00000446890:A101V;ENSP00000395258:A20V;ENSP00000414897:A101V	ENSP00000265306:A124V	A	-	2	0	CLEC5A	141278070	0.028000	0.19301	0.213000	0.23690	0.038000	0.13279	1.012000	0.29924	0.343000	0.23821	0.655000	0.94253	GCT	CLEC5A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000258227		0.378	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC5A	HGNC	protein_coding	OTTHUMT00000347756.1	66	0.00	0	G	NM_013252		141631601	141631601	-1	no_errors	ENST00000546910	ensembl	human	known	69_37n	missense	42	26.32	15	SNP	0.062	A
CSRNP3	80034	genome.wustl.edu	37	2	166514344	166514344	+	Silent	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr2:166514344C>T	ENST00000342316.4	+	3	494	c.222C>T	c.(220-222)taC>taT	p.Y74Y	CSRNP3_ENST00000314499.7_Silent_p.Y74Y|CSRNP3_ENST00000409420.1_Silent_p.Y106Y	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	74					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CCGTGTACTACTTCACCAGGA	0.507																																						dbGAP											0													86.0	76.0	79.0					2																	166514344		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.222C>T	2.37:g.166514344C>T			B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Silent	SNP	prints_Cys/Ser-rich_nuc_prot	p.Y74	ENST00000342316.4	37	c.222	CCDS2225.1	2																																																																																			CSRNP3	-	NULL	ENSG00000178662		0.507	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP3	HGNC	protein_coding	OTTHUMT00000255191.2	32	0.00	0	C	NM_024969		166514344	166514344	+1	no_errors	ENST00000314499	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	1.000	T
DHCR7	1717	genome.wustl.edu	37	11	71146439	71146439	+	Silent	SNP	C	C	A	rs375993195		TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr11:71146439C>A	ENST00000355527.3	-	9	1686	c.1410G>T	c.(1408-1410)ctG>ctT	p.L470L	DHCR7_ENST00000407721.2_Silent_p.L470L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	470					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						TTCCAGGCAGCAGGCGGTAAG	0.667									Smith-Lemli-Opitz syndrome																													dbGAP											0													47.0	50.0	49.0					11																	71146439		2191	4280	6471	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1410G>T	11.37:g.71146439C>A			B2R6Z2|O60492|O60717	Silent	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24	p.L470	ENST00000355527.3	37	c.1410	CCDS8200.1	11																																																																																			DHCR7	-	pfam_Ergosterol_biosynth_ERG4_ERG24	ENSG00000172893		0.667	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR7	HGNC	protein_coding	OTTHUMT00000394243.1	11	0.00	0	C	NM_001360		71146439	71146439	-1	no_errors	ENST00000355527	ensembl	human	known	69_37n	silent	10	28.57	4	SNP	1.000	A
DOT1L	84444	genome.wustl.edu	37	19	2191091	2191091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr19:2191091C>A	ENST00000398665.3	+	5	381	c.345C>A	c.(343-345)taC>taA	p.Y115*		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	115	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGGTCTACAACCACTCGG	0.637																																						dbGAP											0													55.0	63.0	61.0					19																	2191091		2140	4225	6365	-	-	-	SO:0001587	stop_gained	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.345C>A	19.37:g.2191091C>A	ENSP00000381657:p.Tyr115*		O60379|Q96JL1	Nonsense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.Y115*	ENST00000398665.3	37	c.345	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842411	0.71488	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000452696	.	.	.	4.75	-0.533	0.11887	.	0.061993	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.8196	9.7713	0.40591	0.0:0.606:0.0:0.394	.	.	.	.	X	115;115;91	.	ENSP00000221482:Y115X	Y	+	3	2	DOT1L	2142091	0.983000	0.35010	0.998000	0.56505	0.978000	0.69477	0.204000	0.17335	0.083000	0.17047	0.555000	0.69702	TAC	DOT1L	-	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.637	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	60	0.00	0	C	NM_032482		2191091	2191091	+1	no_errors	ENST00000398665	ensembl	human	known	69_37n	nonsense	4	71.43	10	SNP	0.999	A
EGFR	1956	genome.wustl.edu	37	7	55211097	55211097	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr7:55211097G>A	ENST00000275493.2	+	3	517	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	EGFR_ENST00000442591.1_Missense_Mutation_p.E114K|EGFR_ENST00000344576.2_Missense_Mutation_p.E114K|EGFR_ENST00000420316.2_Missense_Mutation_p.E114K|EGFR_ENST00000454757.2_Missense_Mutation_p.E61K|EGFR_ENST00000455089.1_Missense_Mutation_p.E114K|EGFR_ENST00000342916.3_Missense_Mutation_p.E114K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	114			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E114K(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TATGTACTACGAAAATTCCTA	0.458		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												dbGAP	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	2	Substitution - Missense(2)	large_intestine(2)											113.0	113.0	113.0					7																	55211097		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.340G>A	7.37:g.55211097G>A	ENSP00000275493:p.Glu114Lys		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E114K	ENST00000275493.2	37	c.340	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364338	0.41902	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.141063	0.64402	D	0.000006	T	0.69033	0.3066	L	0.37800	1.135	0.58432	D	0.999996	B;B;P;B;B	0.36249	0.142;0.019;0.545;0.04;0.036	B;B;B;B;B	0.28638	0.066;0.016;0.092;0.021;0.017	T	0.71652	-0.4528	10	0.52906	T	0.07	.	11.4126	0.49933	0.0839:0.0:0.9161:0.0	.	114;114;114;114;114	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	114;114;114;114;114;114;61;61	ENSP00000415559:E114K;ENSP00000342376:E114K;ENSP00000345973:E114K;ENSP00000413843:E114K;ENSP00000275493:E114K;ENSP00000410031:E114K;ENSP00000413354:E61K;ENSP00000395243:E61K	ENSP00000275493:E114K	E	+	1	0	EGFR	55178591	1.000000	0.71417	0.943000	0.38184	0.083000	0.17756	4.824000	0.62701	2.656000	0.90262	0.655000	0.94253	GAA	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000146648		0.458	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	69	0.00	0	G	NM_005228		55211097	55211097	+1	no_errors	ENST00000275493	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	1.000	A
ERAP2	64167	genome.wustl.edu	37	5	96244775	96244775	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr5:96244775A>G	ENST00000437043.3	+	14	2834	c.2123A>G	c.(2122-2124)cAc>cGc	p.H708R	ERAP2_ENST00000379904.4_Missense_Mutation_p.H663R|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	708					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TCGTTTTACCACATGATGGAC	0.403																																						dbGAP											0													111.0	104.0	107.0					5																	96244775		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2123A>G	5.37:g.96244775A>G	ENSP00000400376:p.His708Arg		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.H708R	ENST00000437043.3	37	c.2123	CCDS4086.1	5	.	.	.	.	.	.	.	.	.	.	A	7.710	0.694893	0.15039	.	.	ENSG00000164308	ENST00000437043;ENST00000379904	T;T	0.04706	3.57;3.57	4.73	-1.91	0.07641	.	0.675857	0.14645	N	0.306948	T	0.01523	0.0049	N	0.02225	-0.63	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.50466	-0.8825	10	0.14252	T	0.57	.	5.1066	0.14787	0.5528:0.0:0.3174:0.1298	.	663;708	Q6P179-3;Q6P179	.;ERAP2_HUMAN	R	708;663	ENSP00000400376:H708R;ENSP00000369235:H663R	ENSP00000369235:H663R	H	+	2	0	ERAP2	96270531	0.017000	0.18338	0.007000	0.13788	0.933000	0.57130	0.901000	0.28445	-0.198000	0.10333	-0.400000	0.06385	CAC	ERAP2	-	NULL	ENSG00000164308		0.403	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP2	HGNC	protein_coding	OTTHUMT00000250623.2	70	0.00	0	A	NM_022350		96244775	96244775	+1	no_errors	ENST00000437043	ensembl	human	known	69_37n	missense	19	38.71	12	SNP	0.996	G
FAM227A	646851	genome.wustl.edu	37	22	39024855	39024855	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr22:39024855A>C	ENST00000535113.1	-	7	1208	c.605T>G	c.(604-606)tTt>tGt	p.F202C	FAM227A_ENST00000355830.6_Missense_Mutation_p.F196C|FAM227A_ENST00000540952.1_5'UTR|FAM227A_ENST00000406767.2_Missense_Mutation_p.F196C	NM_001013647.1	NP_001013669.1	F5H4B4	F227A_HUMAN	family with sequence similarity 227, member A	202																	CCTCTCATGAAATATCCACCA	0.368																																						dbGAP											0													90.0	85.0	86.0					22																	39024855		692	1591	2283	-	-	-	SO:0001583	missense	0					22q13.1	2012-07-04			ENSG00000184949	ENSG00000184949			44197	protein-coding gene	gene with protein product							Standard	NM_001013647		Approved		uc011anw.1	F5H4B4	OTTHUMG00000151133	ENST00000535113.1:c.605T>G	22.37:g.39024855A>C	ENSP00000445093:p.Phe202Cys		B0QY52|B7Z7C6|Q5TG08	Missense_Mutation	SNP	superfamily_Staphylocoagulase_N	p.F196C	ENST00000535113.1	37	c.587		22	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582468	0.65992	.	.	ENSG00000184949	ENST00000535113;ENST00000355830;ENST00000406767;ENST00000466655	.	.	.	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000013	T	0.76751	0.4031	M	0.71581	2.175	0.39318	D	0.965204	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80520	-0.1346	9	0.87932	D	0	-21.8902	11.8018	0.52130	1.0:0.0:0.0:0.0	.	196;202	Q5TG08;F5H4B4	YV009_HUMAN;.	C	202;196;196;109	.	ENSP00000348086:F196C	F	-	2	0	RP1-199H16.5	37354801	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.656000	0.61483	2.041000	0.60428	0.374000	0.22700	TTT	FAM227A	-	NULL	ENSG00000184949		0.368	FAM227A-202	KNOWN	basic|appris_principal	protein_coding	FAM227A	HGNC	protein_coding		71	0.00	0	A	NM_001013647		39024855	39024855	-1	no_errors	ENST00000406767	ensembl	human	known	69_37n	missense	33	31.25	15	SNP	1.000	C
FLVCR1	28982	genome.wustl.edu	37	1	213046085	213046085	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr1:213046085G>A	ENST00000366971.4	+	3	1147	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	317					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CAGTCCCCCTGAAGAGTACTC	0.368																																					Esophageal Squamous(199;2235 2952 19233 26256)	dbGAP											0													69.0	76.0	73.0					1																	213046085		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.949G>A	1.37:g.213046085G>A	ENSP00000355938:p.Glu317Lys		Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E317K	ENST00000366971.4	37	c.949	CCDS1510.1	1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187153	0.38609	.	.	ENSG00000162769	ENST00000366971	T	0.56611	0.45	5.43	4.52	0.55395	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.277939	0.39985	N	0.001219	T	0.46718	0.1407	L	0.53729	1.69	0.50313	D	0.999863	B	0.16802	0.019	B	0.19946	0.027	T	0.36744	-0.9735	10	0.14252	T	0.57	-17.1817	13.8212	0.63322	0.0746:0.0:0.9254:0.0	.	317	Q9Y5Y0	FLVC1_HUMAN	K	317	ENSP00000355938:E317K	ENSP00000355938:E317K	E	+	1	0	FLVCR1	211112708	1.000000	0.71417	0.057000	0.19452	0.992000	0.81027	6.208000	0.72165	1.301000	0.44836	0.655000	0.94253	GAA	FLVCR1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000162769		0.368	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR1	HGNC	protein_coding	OTTHUMT00000089678.2	81	0.00	0	G	NM_014053		213046085	213046085	+1	no_errors	ENST00000366971	ensembl	human	known	69_37n	missense	54	17.91	12	SNP	0.921	A
GRIK2	2898	genome.wustl.edu	37	6	102266342	102266342	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr6:102266342T>A	ENST00000421544.1	+	9	1791	c.1301T>A	c.(1300-1302)aTt>aAt	p.I434N	GRIK2_ENST00000413795.1_Missense_Mutation_p.I434N|GRIK2_ENST00000369137.3_Missense_Mutation_p.I434N|GRIK2_ENST00000369138.1_Missense_Mutation_p.I434N|GRIK2_ENST00000369134.4_Missense_Mutation_p.I385N|GRIK2_ENST00000318991.6_Missense_Mutation_p.I434N	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	434					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CGTTCTTTGATTGTTACCACC	0.383																																						dbGAP											0													205.0	184.0	191.0					6																	102266342		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1301T>A	6.37:g.102266342T>A	ENSP00000397026:p.Ile434Asn		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I434N	ENST00000421544.1	37	c.1301	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	T	15.59	2.879566	0.51801	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.34275	2.72;2.72;2.72;2.72;2.72;2.72;1.37;2.72	5.81	5.81	0.92471	Ionotropic glutamate receptor (1);	0.452012	0.24952	N	0.034286	T	0.55305	0.1912	M	0.90759	3.145	0.36421	D	0.864317	D;P;D	0.57257	0.979;0.951;0.979	D;P;P	0.63488	0.915;0.843;0.868	T	0.68481	-0.5397	10	0.87932	D	0	.	11.2318	0.48916	0.0:0.0711:0.0:0.9289	.	434;434;434	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	N	434;434;434;434;434;434;385;396;147;33	ENSP00000397026:I434N;ENSP00000405596:I434N;ENSP00000358134:I434N;ENSP00000358133:I434N;ENSP00000313276:I434N;ENSP00000358130:I385N;ENSP00000391988:I147N;ENSP00000407140:I33N	ENSP00000313276:I434N	I	+	2	0	GRIK2	102373035	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	3.147000	0.50639	2.221000	0.72209	0.523000	0.50628	ATT	GRIK2	-	smart_Iontro_glu_rcpt	ENSG00000164418		0.383	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	141	0.00	0	T			102266342	102266342	+1	no_errors	ENST00000421544	ensembl	human	known	69_37n	missense	70	19.54	17	SNP	0.988	A
GYG2	8908	genome.wustl.edu	37	X	2761383	2761383	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chrX:2761383C>G	ENST00000381163.3	+	4	512	c.230C>G	c.(229-231)tCc>tGc	p.S77C	GYG2_ENST00000542787.1_Missense_Mutation_p.S77C|GYG2_ENST00000381161.1_Intron|GYG2_ENST00000398806.3_Missense_Mutation_p.S46C|GYG2_ENST00000338623.5_Missense_Mutation_p.S77C	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	77					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTCAGGTGTCCAGCCTGCTC	0.577																																						dbGAP											0													61.0	37.0	45.0					X																	2761383		2203	4298	6501	-	-	-	SO:0001583	missense	0			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.230C>G	X.37:g.2761383C>G	ENSP00000370555:p.Ser77Cys		B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.S77C	ENST00000381163.3	37	c.230	CCDS14121.1	X	.	.	.	.	.	.	.	.	.	.	c	17.40	3.379836	0.61845	.	.	ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787;ENST00000520904	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	2.79	2.79	0.32731	.	0.123460	0.36167	U	0.002747	D	0.86648	0.5983	H	0.96833	3.89	0.38434	D	0.946528	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;P;D	0.83275	0.994;0.996;0.989;0.903;0.995	D	0.91493	0.5213	10	0.87932	D	0	.	13.3612	0.60657	0.0:1.0:0.0:0.0	.	77;37;46;46;77	O15488-4;O15488-3;A8K8Y1;O15488-2;O15488	.;.;.;.;GLYG2_HUMAN	C	46;77;77;77;46	ENSP00000381786:S46C;ENSP00000370555:S77C;ENSP00000341273:S77C;ENSP00000446092:S77C;ENSP00000430764:S46C	ENSP00000341273:S77C	S	+	2	0	GYG2	2771383	1.000000	0.71417	0.844000	0.33320	0.960000	0.62799	5.365000	0.66116	1.169000	0.42739	0.287000	0.19450	TCC	GYG2	-	pfam_Glyco_trans_8	ENSG00000056998		0.577	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	42	0.00	0	C	NM_003918		2761383	2761383	+1	no_errors	ENST00000381163	ensembl	human	known	69_37n	missense	15	60.53	23	SNP	0.987	G
HM13	81502	genome.wustl.edu	37	20	30115323	30115323	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr20:30115323G>A	ENST00000340852.5	+	2	344	c.220G>A	c.(220-222)Gat>Aat	p.D74N	HM13_ENST00000376127.3_Missense_Mutation_p.D74N|HM13_ENST00000398174.3_Missense_Mutation_p.D74N|HM13_ENST00000335574.5_Missense_Mutation_p.D74N	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	74					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CACCAGCCGGGATGCCGCCCG	0.502																																						dbGAP											0													148.0	149.0	148.0					20																	30115323		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.220G>A	20.37:g.30115323G>A	ENSP00000343032:p.Asp74Asn		B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22	p.D74N	ENST00000340852.5	37	c.220	CCDS13182.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.920536	0.97105	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	M	0.91196	3.185	0.80722	D	1	P;D;P;D	0.89917	0.934;1.0;0.86;0.966	D;D;P;P	0.83275	0.928;0.996;0.661;0.881	T	0.59799	-0.7386	10	0.52906	T	0.07	-14.6332	18.5426	0.91035	0.0:0.0:1.0:0.0	.	74;74;74;74	Q8TCT9;Q8TCT9-4;Q8TCT9-2;Q8TCT9-5	HM13_HUMAN;.;.;.	N	74	ENSP00000335294:D74N;ENSP00000343032:D74N;ENSP00000381237:D74N;ENSP00000365296:D74N;ENSP00000341347:D74N	ENSP00000335294:D74N	D	+	1	0	HM13	29578984	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.529000	0.90602	2.719000	0.93026	0.555000	0.69702	GAT	HM13	-	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22	ENSG00000101294		0.502	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	HM13	HGNC	protein_coding	OTTHUMT00000078527.2	101	0.00	0	G	NM_178580		30115323	30115323	+1	no_errors	ENST00000398174	ensembl	human	known	69_37n	missense	6	72.73	16	SNP	1.000	A
IGHV4-31	28396	genome.wustl.edu	37	14	106805627	106805627	+	RNA	SNP	G	G	C			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr14:106805627G>C	ENST00000438142.2	-	0	89									immunoglobulin heavy variable 4-31																		GCAGGAGGAAGAACCACAGGT	0.517																																						dbGAP											0													48.0	66.0	60.0					14																	106805627		1797	4026	5823	-	-	-			0			L10098		14q32.33	2012-02-08			ENSG00000231475	ENSG00000231475		"""Immunoglobulins / IGH locus"""	5649	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152097		14.37:g.106805627G>C				Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.F6L	ENST00000438142.2	37	c.18		14																																																																																			IGHV4-31	-	NULL	ENSG00000231475		0.517	IGHV4-31-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV4-31	HGNC	IG_V_gene	OTTHUMT00000325194.1	187	0.53	1	G	NG_001019		106805627	106805627	-1	no_stop_codon	ENST00000438142	ensembl	human	known	69_37n	missense	82	27.43	31	SNP	0.000	C
ITGA3	3675	genome.wustl.edu	37	17	48156481	48156481	+	Silent	SNP	G	G	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr17:48156481G>T	ENST00000320031.8	+	20	2772	c.2442G>T	c.(2440-2442)ctG>ctT	p.L814L	ITGA3_ENST00000007722.7_Silent_p.L814L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	814					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGGGGACCCTGGTCCTAGGTC	0.597																																						dbGAP											0													68.0	68.0	68.0					17																	48156481		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2442G>T	17.37:g.48156481G>T			A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L814	ENST00000320031.8	37	c.2442	CCDS11558.1	17																																																																																			ITGA3	-	pfam_Integrin_alpha-2	ENSG00000005884		0.597	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	HGNC	protein_coding	OTTHUMT00000366298.1	67	0.00	0	G	NM_005501		48156481	48156481	+1	no_errors	ENST00000320031	ensembl	human	known	69_37n	silent	4	89.47	34	SNP	0.998	T
KCNV1	27012	genome.wustl.edu	37	8	110984916	110984916	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr8:110984916G>T	ENST00000524391.1	-	3	1594	c.562C>A	c.(562-564)Cct>Act	p.P188T	KCNV1_ENST00000297404.1_Missense_Mutation_p.P188T|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	188					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GTGGGACAAGGTCCTTGGGAG	0.473																																						dbGAP											0													130.0	122.0	124.0					8																	110984916		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.562C>A	8.37:g.110984916G>T	ENSP00000435954:p.Pro188Thr		Q9UHJ4	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.P188T	ENST00000524391.1	37	c.562	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	G	6.728	0.503005	0.12822	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97404	-4.37;-4.37	5.35	3.21	0.36854	.	0.384806	0.24089	N	0.041648	D	0.94172	0.8130	L	0.49778	1.585	0.24399	N	0.994711	B	0.14012	0.009	B	0.13407	0.009	D	0.85354	0.1103	10	0.21540	T	0.41	.	12.0192	0.53333	0.167:0.0:0.833:0.0	.	188	Q6PIU1	KCNV1_HUMAN	T	188;188;64	ENSP00000435954:P188T;ENSP00000297404:P188T	ENSP00000297404:P188T	P	-	1	0	KCNV1	111054092	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.528000	0.45624	1.259000	0.44117	-0.259000	0.10710	CCT	KCNV1	-	prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv4	ENSG00000164794		0.473	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	125	0.00	0	G	NM_014379		110984916	110984916	-1	no_errors	ENST00000297404	ensembl	human	known	69_37n	missense	66	38.32	41	SNP	0.821	T
KIAA1958	158405	genome.wustl.edu	37	9	115408031	115408031	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr9:115408031C>T	ENST00000337530.6	+	3	1569	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	KIAA1958_ENST00000536272.1_Missense_Mutation_p.R453W	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	425										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAAAGCCACGCGGTACGCCTT	0.423																																						dbGAP											0													149.0	114.0	126.0					9																	115408031		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1273C>T	9.37:g.115408031C>T	ENSP00000336940:p.Arg425Trp		B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	pfam_DUF3504,superfamily_Integrase_Lambda-type_N	p.R453W	ENST00000337530.6	37	c.1357	CCDS35108.1	9	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068148	0.55539	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	T	0.47528	0.84	5.5	2.56	0.30785	.	.	.	.	.	T	0.29684	0.0741	N	0.08118	0	0.09310	N	1	D;D	0.69078	0.997;0.983	P;B	0.47299	0.543;0.424	T	0.08576	-1.0715	9	0.72032	D	0.01	.	5.0187	0.14350	0.3207:0.5277:0.0:0.1517	.	453;425	B7ZKW6;Q8N8K9	.;K1958_HUMAN	W	425;453	ENSP00000336940:R425W	ENSP00000336940:R425W	R	+	1	2	KIAA1958	114447852	0.623000	0.27094	0.957000	0.39632	0.909000	0.53808	1.378000	0.34328	0.631000	0.30412	0.655000	0.94253	CGG	KIAA1958	-	superfamily_Integrase_Lambda-type_N	ENSG00000165185		0.423	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	KIAA1958	HGNC	protein_coding	OTTHUMT00000053690.1	50	0.00	0	C	NM_133465		115408031	115408031	+1	no_errors	ENST00000536272	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	0.152	T
L3MBTL4	91133	genome.wustl.edu	37	18	6171943	6171946	+	Splice_Site	DEL	TGTT	TGTT	-			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	TGTT	TGTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr18:6171943_6171946delTGTT	ENST00000284898.6	-	13	1182		c.e13-2		L3MBTL4_ENST00000400104.3_Splice_Site|L3MBTL4_ENST00000400105.2_Splice_Site|L3MBTL4_ENST00000535782.1_Splice_Site|L3MBTL4_ENST00000317931.7_Splice_Site	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)						chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AAAATGAACCTGTTAAAACGAGTT	0.392																																					Esophageal Squamous(41;748 902 17366 28959 43175)	dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.982-2AACA>-	18.37:g.6171943_6171946delTGTT			A8MTL8|Q8IXS3	Splice_Site	DEL	-	e11-2	ENST00000284898.6	37	c.982-5_982-2	CCDS11839.2	18																																																																																			L3MBTL4	-	-	ENSG00000154655		0.392	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	48	0.00	0	TGTT	NM_173464	Intron	6171943	6171946	-1	no_errors	ENST00000284898	ensembl	human	known	69_37n	splice_site_del	25	21.88	7	DEL	1.000:0.998:0.859:0.001	-
MAGEL2	54551	genome.wustl.edu	37	15	23889634	23889634	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr15:23889634C>T	ENST00000532292.1	-	1	1541	c.1447G>A	c.(1447-1449)Gcc>Acc	p.A483T		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	366	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ATAATATAGGCGTGGTTTTTG	0.423																																						dbGAP											0													93.0	86.0	88.0					15																	23889634		1885	4119	6004	-	-	-	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1447G>A	15.37:g.23889634C>T	ENSP00000433433:p.Ala483Thr			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.A483T	ENST00000532292.1	37	c.1447		15																																																																																			MAGEL2	-	pfam_MAGE,pfscan_MAGE	ENSG00000254585		0.423	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	83	0.00	0	C	NM_019066		23889634	23889634	-1	no_errors	ENST00000532292	ensembl	human	known	69_37n	missense	6	72.73	16	SNP	0.008	T
MAN2C1	4123	genome.wustl.edu	37	15	75652054	75652054	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr15:75652054G>C	ENST00000267978.5	-	16	1901	c.1855C>G	c.(1855-1857)Cca>Gca	p.P619A	MAN2C1_ENST00000563622.1_Missense_Mutation_p.P520A|MAN2C1_ENST00000565683.1_Missense_Mutation_p.P619A|MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000569482.1_Missense_Mutation_p.P619A	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	619					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TCAGGACCTGGCTCCCCAGCA	0.627																																						dbGAP											0													47.0	46.0	46.0					15																	75652054		2197	4294	6491	-	-	-	SO:0001583	missense	0			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.1855C>G	15.37:g.75652054G>C	ENSP00000267978:p.Pro619Ala		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,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.P619A	ENST00000267978.5	37	c.1855	CCDS32298.1	15	.	.	.	.	.	.	.	.	.	.	G	6.676	0.493299	0.12702	.	.	ENSG00000140400	ENST00000267978	T	0.17854	2.25	5.05	4.12	0.48240	Glycoside hydrolase-type carbohydrate-binding (1);	0.356597	0.29260	N	0.012678	T	0.11324	0.0276	L	0.41961	1.31	0.33112	D	0.540643	B;B;B	0.31581	0.033;0.329;0.087	B;B;B	0.27887	0.024;0.084;0.033	T	0.06826	-1.0805	10	0.08179	T	0.78	-3.1377	8.5498	0.33444	0.1721:0.0:0.8279:0.0	.	401;619;619	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	A	619	ENSP00000267978:P619A	ENSP00000267978:P619A	P	-	1	0	MAN2C1	73439107	1.000000	0.71417	0.997000	0.53966	0.377000	0.30045	3.439000	0.52878	2.356000	0.79943	0.455000	0.32223	CCA	MAN2C1	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000140400		0.627	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1	68	0.00	0	G			75652054	75652054	-1	no_errors	ENST00000267978	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	0.996	C
MANBA	4126	genome.wustl.edu	37	4	103556107	103556107	+	Silent	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr4:103556107C>T	ENST00000226578.4	-	16	2352	c.2253G>A	c.(2251-2253)gaG>gaA	p.E751E	MANBA_ENST00000505239.1_Silent_p.E694E	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	751					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		ACACTGGCTCCTCATAAAGGC	0.527																																						dbGAP											0													82.0	71.0	75.0					4																	103556107		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.2253G>A	4.37:g.103556107C>T			Q96BC3|Q9NYX9	Silent	SNP	pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like	p.E751	ENST00000226578.4	37	c.2253	CCDS3658.1	4																																																																																			MANBA	-	NULL	ENSG00000109323		0.527	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MANBA	HGNC	protein_coding	OTTHUMT00000253803.2	47	0.00	0	C			103556107	103556107	-1	no_errors	ENST00000226578	ensembl	human	known	69_37n	silent	31	35.42	17	SNP	0.187	T
MASP2	10747	genome.wustl.edu	37	1	11106966	11106966	+	Silent	SNP	G	G	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr1:11106966G>A	ENST00000400897.3	-	2	231	c.216C>T	c.(214-216)tgC>tgT	p.C72C	MASP2_ENST00000400898.3_Silent_p.C72C	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	72	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGTCGTACTCGCAGAGGTGGG	0.657																																					GBM(35;611 746 20780 22741 36496)	dbGAP											0													25.0	27.0	27.0					1																	11106966		2196	4295	6491	-	-	-	SO:0001819	synonymous_variant	0			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.216C>T	1.37:g.11106966G>A			A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.C72	ENST00000400897.3	37	c.216	CCDS123.1	1																																																																																			MASP2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000009724		0.657	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP2	HGNC	protein_coding	OTTHUMT00000006072.1	49	0.00	0	G	NM_006610		11106966	11106966	-1	no_errors	ENST00000400897	ensembl	human	known	69_37n	silent	9	55.00	11	SNP	1.000	A
MED31	51003	genome.wustl.edu	37	17	6554834	6554834	+	Silent	SNP	G	G	C			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr17:6554834G>C	ENST00000225728.3	-	1	120	c.15C>G	c.(13-15)gtC>gtG	p.V5V	MED31_ENST00000575197.1_Silent_p.V5V|MED31_ENST00000574128.1_5'Flank|CTC-281F24.1_ENST00000576138.1_RNA|C17orf100_ENST00000391428.2_5'Flank	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	5					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(1)	3						TCTCCATAGCGACAGCAGCGG	0.577																																						dbGAP											0													72.0	62.0	66.0					17																	6554834		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"""mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"""			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.15C>G	17.37:g.6554834G>C			B2R4L9	Silent	SNP	pfam_Mediator_Med31	p.V5	ENST00000225728.3	37	c.15	CCDS11078.1	17																																																																																			MED31	-	NULL	ENSG00000108590		0.577	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED31	HGNC	protein_coding	OTTHUMT00000219852.1	49	0.00	0	G	NM_016060		6554834	6554834	-1	no_errors	ENST00000225728	ensembl	human	known	69_37n	silent	10	56.52	13	SNP	1.000	C
NOTCH1	4851	genome.wustl.edu	37	9	139390623	139390623	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr9:139390623G>A	ENST00000277541.6	-	34	7643	c.7568C>T	c.(7567-7569)tCg>tTg	p.S2523L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2523	Poly-Ser.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S2524*(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGCGGGGACGAGCTGGACCA	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												dbGAP		Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	4	Substitution - Nonsense(4)	haematopoietic_and_lymphoid_tissue(4)											23.0	30.0	28.0					9																	139390623		2052	4171	6223	-	-	-	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7568C>T	9.37:g.139390623G>A	ENSP00000277541:p.Ser2523Leu		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_1,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.S2523L	ENST00000277541.6	37	c.7568	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040999	0.75732	.	.	ENSG00000148400	ENST00000277541	D	0.82526	-1.62	4.83	4.83	0.62350	Domain of unknown function DUF3454, notch (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.72353	2.195	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.91557	0.5261	10	0.72032	D	0.01	.	17.2612	0.87070	0.0:0.0:1.0:0.0	.	2523	P46531	NOTC1_HUMAN	L	2523	ENSP00000277541:S2523L	ENSP00000277541:S2523L	S	-	2	0	NOTCH1	138510444	1.000000	0.71417	0.939000	0.37840	0.950000	0.60333	7.627000	0.83176	2.385000	0.81259	0.462000	0.41574	TCG	NOTCH1	-	pirsf_Notch,pfam_DUF3454_notch	ENSG00000148400		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	27	0.00	0	G	NM_017617		139390623	139390623	-1	no_errors	ENST00000277541	ensembl	human	known	69_37n	missense	7	68.18	15	SNP	0.998	A
NR5A2	2494	genome.wustl.edu	37	1	200143150	200143150	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr1:200143150G>A	ENST00000367362.3	+	8	1684	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T	NR5A2_ENST00000236914.3_Missense_Mutation_p.A434T|NR5A2_ENST00000544748.1_Missense_Mutation_p.A408T	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	480					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AGTCAATGCCGCCCTGCTGGA	0.433																																					Melanoma(179;1138 2773 15678 26136)	dbGAP											0													42.0	38.0	39.0					1																	200143150		2203	4300	6503	-	-	-	SO:0001583	missense	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1438G>A	1.37:g.200143150G>A	ENSP00000356331:p.Ala480Thr		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A480T	ENST00000367362.3	37	c.1438	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637277	0.87760	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	D;D;D	0.97161	-4.27;-4.27;-4.27	5.88	5.88	0.94601	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98429	0.9477	M	0.81239	2.535	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68483	0.924;0.958	D	0.98344	1.0540	9	.	.	.	.	20.2381	0.98363	0.0:0.0:1.0:0.0	.	434;480	F1D8R9;O00482	.;NR5A2_HUMAN	T	480;434;408	ENSP00000356331:A480T;ENSP00000236914:A434T;ENSP00000439116:A408T	.	A	+	1	0	NR5A2	198409773	1.000000	0.71417	0.966000	0.40874	0.567000	0.35839	9.860000	0.99555	2.779000	0.95612	0.650000	0.86243	GCC	NR5A2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1	ENSG00000116833		0.433	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	24	0.00	0	G			200143150	200143150	+1	no_errors	ENST00000367362	ensembl	human	known	69_37n	missense	12	25.00	4	SNP	1.000	A
NUDT16L1	84309	genome.wustl.edu	37	16	4744071	4744071	+	Silent	SNP	G	G	C			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr16:4744071G>C	ENST00000304301.6	+	2	279	c.246G>C	c.(244-246)ctG>ctC	p.L82L	NUDT16L1_ENST00000586536.1_Silent_p.L82L|NUDT16L1_ENST00000586252.1_Silent_p.L82L|NUDT16L1_ENST00000405142.1_Silent_p.L82L	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	82						cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						ACCGGGTGCTGGGCCTGGGCC	0.716																																						dbGAP											0													17.0	22.0	20.0					16																	4744071		2184	4292	6476	-	-	-	SO:0001819	synonymous_variant	0			BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"""Nudix motif containing"""	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.246G>C	16.37:g.4744071G>C			Q8NAI2	Missense_Mutation	SNP	superfamily_NUDIX_hydrolase_dom-like	p.W69S	ENST00000304301.6	37	c.206	CCDS10519.1	16																																																																																			NUDT16L1	-	superfamily_NUDIX_hydrolase_dom-like	ENSG00000168101		0.716	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT16L1	HGNC	protein_coding	OTTHUMT00000251634.1	11	0.00	0	G	NM_032349		4744071	4744071	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000590460	ensembl	human	novel	69_37n	missense	3	57.14	4	SNP	1.000	C
OBSL1	23363	genome.wustl.edu	37	2	220428132	220428132	+	Silent	SNP	G	G	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr2:220428132G>A	ENST00000404537.1	-	7	2681	c.2625C>T	c.(2623-2625)ggC>ggT	p.G875G	OBSL1_ENST00000373873.4_Silent_p.G875G|OBSL1_ENST00000265318.4_Silent_p.G875G|OBSL1_ENST00000603926.1_Silent_p.G875G|OBSL1_ENST00000373876.1_Silent_p.G875G|OBSL1_ENST00000289656.3_Silent_p.G462G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	875	Ig-like 6.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACTGAAACTCGCCCCCGTCTG	0.667																																						dbGAP											0													36.0	43.0	41.0					2																	220428132		2066	4194	6260	-	-	-	SO:0001819	synonymous_variant	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2625C>T	2.37:g.220428132G>A			A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G875	ENST00000404537.1	37	c.2625	CCDS46520.1	2																																																																																			OBSL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000124006		0.667	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	40	0.00	0	G			220428132	220428132	-1	no_errors	ENST00000404537	ensembl	human	known	69_37n	silent	14	37.50	9	SNP	1.000	A
OPA3	80207	genome.wustl.edu	37	19	46087903	46087903	+	Silent	SNP	A	A	G			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr19:46087903A>G	ENST00000263275.4	-	1	174	c.120T>C	c.(118-120)taT>taC	p.Y40Y	OPA3_ENST00000544371.1_Intron|OPA3_ENST00000323060.3_Silent_p.Y40Y	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	40					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GGAGGCAGATATAGGTCTTGA	0.567																																						dbGAP											0													93.0	98.0	96.0					19																	46087903		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.120T>C	19.37:g.46087903A>G			Q6P384|Q8N784	Silent	SNP	pfam_OPA3-like	p.Y40	ENST00000263275.4	37	c.120	CCDS12668.1	19																																																																																			OPA3	-	pfam_OPA3-like	ENSG00000125741		0.567	OPA3-002	KNOWN	basic|CCDS	protein_coding	OPA3	HGNC	protein_coding	OTTHUMT00000459601.1	41	0.00	0	A			46087903	46087903	-1	no_errors	ENST00000323060	ensembl	human	known	69_37n	silent	24	27.27	9	SNP	1.000	G
OR51Q1	390061	genome.wustl.edu	37	11	5443794	5443794	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr11:5443794G>A	ENST00000300778.4	+	1	454	c.364G>A	c.(364-366)Gtt>Att	p.V122I	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTATGTCCGTTGACTGCTA	0.478																																						dbGAP											0													223.0	189.0	201.0					11																	5443794		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.364G>A	11.37:g.5443794G>A	ENSP00000300778:p.Val122Ile		B2RNN1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V122I	ENST00000300778.4	37	c.364	CCDS31381.1	11	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343069	0.24339	.	.	ENSG00000167360	ENST00000300778	T	0.00892	5.57	5.0	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.374552	0.23494	N	0.047575	T	0.00754	0.0025	N	0.08118	0	0.20196	N	0.999926	B	0.09022	0.002	B	0.01281	0.0	T	0.49688	-0.8913	10	0.62326	D	0.03	.	10.6278	0.45519	0.0:0.0:0.3051:0.6949	.	122	Q8NH59	O51Q1_HUMAN	I	122	ENSP00000300778:V122I	ENSP00000300778:V122I	V	+	1	0	OR51Q1	5400370	0.016000	0.18221	1.000000	0.80357	0.604000	0.37047	1.074000	0.30703	0.911000	0.36747	-2.108000	0.00357	GTT	OR51Q1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000167360		0.478	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	HGNC	protein_coding	OTTHUMT00000143373.1	109	0.00	0	G	NM_001004757		5443794	5443794	+1	no_errors	ENST00000300778	ensembl	human	known	69_37n	missense	46	28.12	18	SNP	1.000	A
P4HB	5034	genome.wustl.edu	37	17	79803835	79803835	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr17:79803835G>C	ENST00000331483.4	-	8	1311	c.1089C>G	c.(1087-1089)gaC>gaG	p.D363E	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.D319E|P4HB_ENST00000472244.1_5'Flank|RP11-498C9.2_ENST00000576784.1_RNA	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	363	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GCTTGTCCCAGTCCTCCGGCA	0.582																																					Colon(49;444 983 1296 7887 42561)	dbGAP											0													35.0	35.0	35.0					17																	79803835		2202	4296	6498	-	-	-	SO:0001583	missense	0			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1089C>G	17.37:g.79803835G>C	ENSP00000327801:p.Asp363Glu		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.D363E	ENST00000331483.4	37	c.1089	CCDS11787.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.160400|3.160400	0.57368|0.57368	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463|ENST00000415593;ENST00000439918	T|.	0.13901|.	2.55|.	5.7|5.7	1.51|1.51	0.23008|0.23008	Thioredoxin-like fold (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55609|0.55609	0.1931|0.1931	L|L	0.45698|0.45698	1.435|1.435	0.80722|0.80722	D|D	1|1	B|.	0.17268|.	0.021|.	B|.	0.18871|.	0.023|.	T|T	0.45264|0.45264	-0.9273|-0.9273	10|5	0.72032|.	D|.	0.01|.	.|.	10.4088|10.4088	0.44280|0.44280	0.2583:0.0:0.7417:0.0|0.2583:0.0:0.7417:0.0	.|.	363|.	P07237|.	PDIA1_HUMAN|.	E|V	363;306;347|129;150	ENSP00000327801:D363E|.	ENSP00000327801:D363E|.	D|L	-|-	3|1	2|2	P4HB|P4HB	77397124|77397124	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.770000|0.770000	0.43624|0.43624	4.065000|4.065000	0.57513|0.57513	0.074000|0.074000	0.16767|0.16767	0.655000|0.655000	0.94253|0.94253	GAC|CTG	P4HB	-	superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000185624		0.582	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HB	HGNC	protein_coding	OTTHUMT00000317250.3	50	0.00	0	G	NM_000918		79803835	79803835	-1	no_errors	ENST00000331483	ensembl	human	known	69_37n	missense	14	41.67	10	SNP	1.000	C
PKD1	5310	genome.wustl.edu	37	16	2158582	2158582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr16:2158582G>A	ENST00000262304.4	-	15	6794	c.6586C>T	c.(6586-6588)Cag>Tag	p.Q2196*	PKD1_ENST00000423118.1_Nonsense_Mutation_p.Q2196*|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2196	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCGGCCGCTGGCAGCTGGCG	0.711																																						dbGAP											0													10.0	9.0	10.0					16																	2158582		2083	4117	6200	-	-	-	SO:0001587	stop_gained	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6586C>T	16.37:g.2158582G>A	ENSP00000262304:p.Gln2196*		Q15140|Q15141	Nonsense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat	p.Q2196*	ENST00000262304.4	37	c.6586	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	32	5.162270	0.94727	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	.	.	.	5.49	4.33	0.51752	.	0.517050	0.21192	N	0.078625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	11.5984	0.50988	0.0764:0.0:0.7965:0.1271	.	.	.	.	X	2196;2196;1547;475	.	ENSP00000262304:Q2196X	Q	-	1	0	PKD1	2098583	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.150000	0.42254	2.597000	0.87782	0.544000	0.68410	CAG	PKD1	-	pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat	ENSG00000008710		0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	9	0.00	0	G			2158582	2158582	-1	no_errors	ENST00000262304	ensembl	human	known	69_37n	nonsense	3	57.14	4	SNP	0.859	A
PRKAR2A	5576	genome.wustl.edu	37	3	48802461	48802461	+	Silent	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr3:48802461C>T	ENST00000265563.8	-	8	1098	c.849G>A	c.(847-849)aaG>aaA	p.K283K	PRKAR2A_ENST00000454963.1_Silent_p.K283K|PRKAR2A_ENST00000296446.8_Silent_p.K283K	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	283					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GTTCTCCATCCTTATAGATCT	0.388																																						dbGAP											0													127.0	113.0	117.0					3																	48802461		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.849G>A	3.37:g.48802461C>T			Q16823|Q9BUB1	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.G52R	ENST00000265563.8	37	c.154	CCDS2778.1	3	.	.	.	.	.	.	.	.	.	.	C	9.527	1.109893	0.20714	.	.	ENSG00000114302	ENST00000438535	.	.	.	4.8	1.73	0.24493	.	.	.	.	.	T	0.45935	0.1367	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29822	-0.9999	4	.	.	.	-6.4851	3.62	0.08092	0.1792:0.4736:0.0:0.3473	.	.	.	.	R	52	.	.	G	-	1	0	PRKAR2A	48777465	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.572000	0.23684	0.615000	0.30124	0.563000	0.77884	GGA	PRKAR2A	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000114302		0.388	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2A	HGNC	protein_coding	OTTHUMT00000257518.1	93	0.00	0	C			48802461	48802461	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000438535	ensembl	human	putative	69_37n	missense	21	32.26	10	SNP	0.999	T
PTAFR	5724	genome.wustl.edu	37	1	28477350	28477350	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr1:28477350C>G	ENST00000373857.3	-	2	817	c.183G>C	c.(181-183)atG>atC	p.M61I	PTAFR_ENST00000539896.1_Missense_Mutation_p.M61I|PTAFR_ENST00000305392.3_Missense_Mutation_p.M61I	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	61					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GCATGTCCGCCATGGTGAGGT	0.502																																						dbGAP											0													109.0	95.0	100.0					1																	28477350		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.183G>C	1.37:g.28477350C>G	ENSP00000362965:p.Met61Ile		A3KMC8|A8K2H5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_PAF_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.M61I	ENST00000373857.3	37	c.183	CCDS318.1	1	.	.	.	.	.	.	.	.	.	.	C	9.953	1.220618	0.22457	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	T;T;T	0.31510	1.49;1.49;1.49	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.412865	0.27113	N	0.020873	T	0.08582	0.0213	N	0.01168	-0.975	0.38654	D	0.951902	B	0.06786	0.001	B	0.10450	0.005	T	0.33471	-0.9867	10	0.05833	T	0.94	.	5.9963	0.19495	0.1854:0.7019:0.0:0.1126	.	61	P25105	PTAFR_HUMAN	I	61	ENSP00000362965:M61I;ENSP00000442658:M61I;ENSP00000301974:M61I	ENSP00000301974:M61I	M	-	3	0	PTAFR	28349937	0.874000	0.30092	0.992000	0.48379	0.993000	0.82548	-0.055000	0.11807	2.699000	0.92147	0.655000	0.94253	ATG	PTAFR	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000169403		0.502	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTAFR	HGNC	protein_coding	OTTHUMT00000011258.1	89	0.00	0	C	NM_000952		28477350	28477350	-1	no_errors	ENST00000305392	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	1.000	G
RANBP2	5903	genome.wustl.edu	37	2	109380159	109380160	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr2:109380159_109380160CC>TA	ENST00000283195.6	+	20	3290_3291	c.3164_3165CC>TA	c.(3163-3165)cCC>cTA	p.P1055L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1055					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTGACACAGCCCCCTCCTGCAG	0.441																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	Exception_encountered	2.37:g.109380159_109380160delinsTA	ENSP00000283195:p.Pro1055Leu		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation|Silent	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.P1055L|p.P1055	ENST00000283195.6	37	c.3164|c.3165	CCDS2079.1	2																																																																																			RANBP2	-	NULL	ENSG00000153201		0.441	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	49|48	0.00	0	C	NM_006267		109380159|109380160	109380159|109380160	+1	no_errors	ENST00000283195	ensembl	human	known	69_37n	missense|silent	10	37.50|33.33	6|5	SNP	0.773|0.030	T|A
RB1CC1	9821	genome.wustl.edu	37	8	53586673	53586673	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr8:53586673delT	ENST00000025008.5	-	7	1257	c.734delA	c.(733-735)gatfs	p.D245fs	RB1CC1_ENST00000539297.1_Frame_Shift_Del_p.D245fs|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Frame_Shift_Del_p.D245fs	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	245					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCTAGGCATATCAGGAGAGAG	0.418																																					GBM(180;1701 2102 13475 42023 52570)	dbGAP											0													279.0	261.0	267.0					8																	53586673		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.734delA	8.37:g.53586673delT	ENSP00000025008:p.Asp245fs		Q86YR4|Q8WVU9|Q92601	Frame_Shift_Del	DEL	pfam_Autophagy-rel_p11	p.D245fs	ENST00000025008.5	37	c.734	CCDS34892.1	8																																																																																			RB1CC1	-	NULL	ENSG00000023287		0.418	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	124	0.00	0	T	NM_014781		53586673	53586673	-1	no_errors	ENST00000025008	ensembl	human	known	69_37n	frame_shift_del	68	20.69	18	DEL	1.000	-
RB1CC1	9821	genome.wustl.edu	37	8	53586674	53586675	+	Missense_Mutation	DNP	CA	CA	GG			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr8:53586674_53586675CA>GG	ENST00000025008.5	-	7	1255_1256	c.732_733TG>CC	c.(730-735)ccTGat>ccCCat	p.D245H	RB1CC1_ENST00000539297.1_Missense_Mutation_p.D245H|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D245H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	245					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTAGGCATATCAGGAGAGAGCA	0.416																																					GBM(180;1701 2102 13475 42023 52570)	dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.732_733delinsGG	8.37:g.53586674_53586675delinsGG	ENSP00000025008:p.Asp245His		Q86YR4|Q8WVU9|Q92601	Missense_Mutation|Silent	SNP	pfam_Autophagy-rel_p11	p.D245H|p.P244	ENST00000025008.5	37	c.733|c.732	CCDS34892.1	8																																																																																			RB1CC1	-	NULL	ENSG00000023287		0.416	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	129	0.00	0	C|A	NM_014781		53586674|53586675	53586674|53586675	-1	no_errors	ENST00000025008	ensembl	human	known	69_37n	missense|silent	68|69	23.60|23.33	21	SNP	1.000	G
RIMBP3	85376	genome.wustl.edu	37	22	20458076	20458076	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr22:20458076C>T	ENST00000426804.1	-	1	3710	c.3226G>A	c.(3226-3228)Gtc>Atc	p.V1076I	RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1076	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TCGAAGGTGACGGTGGAGGAC	0.667																																						dbGAP											0													40.0	59.0	53.0					22																	20458076		2075	4217	6292	-	-	-	SO:0001583	missense	0			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3226G>A	22.37:g.20458076C>T	ENSP00000391564:p.Val1076Ile		Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.V1076I	ENST00000426804.1	37	c.3226	CCDS46665.1	22	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.672449	0.00758	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.30448	1.53	3.56	-5.25	0.02781	Fibronectin, type III (2);	0.517985	0.18280	N	0.146057	T	0.05456	0.0144	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21965	-1.0230	10	0.02654	T	1	-2.4179	7.1761	0.25744	0.0:0.475:0.2882:0.2368	.	982	Q9UFD9	RIM3A_HUMAN	I	982;1076	ENSP00000391564:V1076I	ENSP00000347318:V982I	V	-	1	0	RIMBP3	18838076	0.000000	0.05858	0.034000	0.17996	0.516000	0.34256	-0.631000	0.05496	-1.524000	0.01764	-0.982000	0.02568	GTC	RIMBP3	-	superfamily_Fibronectin_type3	ENSG00000196622		0.667	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	HGNC	protein_coding	OTTHUMT00000318945.2	160	0.00	0	C	NM_015672		20458076	20458076	-1	no_errors	ENST00000426804	ensembl	human	known	69_37n	missense	84	18.45	19	SNP	0.003	T
RPLP0P2	113157	genome.wustl.edu	37	11	61405179	61405179	+	RNA	DEL	A	A	-			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr11:61405179delA	ENST00000496593.1	+	0	1783					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		ttacttctttaaaaaaaaaaa	0.299																																						dbGAP											0																																										-	-	-			0			BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405179delA				RNA	DEL	-	NULL	ENST00000496593.1	37	NULL		11																																																																																			RPLP0P2	-	-	ENSG00000243742		0.299	RPLP0P2-002	KNOWN	basic	processed_transcript	RPLP0P2	HGNC	pseudogene	OTTHUMT00000350911.1	16	0.00	0	A	NR_002775		61405179	61405179	+1	no_errors	ENST00000496593	ensembl	human	known	69_37n	rna	8	38.46	5	DEL	0.975	-
SLC23A3	151295	genome.wustl.edu	37	2	220029949	220029949	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr2:220029949C>T	ENST00000409878.3	-	8	1141	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	SLC23A3_ENST00000295738.7_Intron|SLC23A3_ENST00000455516.2_Missense_Mutation_p.G378E|SLC23A3_ENST00000396775.3_Intron	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	370					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGGGGCTTCCCAGCAGCCC	0.647																																						dbGAP											0													16.0	24.0	22.0					2																	220029949		691	1591	2282	-	-	-	SO:0001583	missense	0			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1109G>A	2.37:g.220029949C>T	ENSP00000386473:p.Gly370Glu		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.G378E	ENST00000409878.3	37	c.1133	CCDS46518.1	2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906039	0.92107	.	.	ENSG00000213901	ENST00000409878;ENST00000455516	T;T	0.37058	1.22;1.22	5.65	5.65	0.86999	.	.	.	.	.	T	0.67618	0.2912	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71013	-0.4715	8	.	.	.	.	19.7299	0.96177	0.0:1.0:0.0:0.0	.	370;378	Q6PIS1;B7Z512	S23A3_HUMAN;.	E	370;378	ENSP00000386473:G370E;ENSP00000406546:G378E	.	G	-	2	0	SLC23A3	219738193	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.091000	0.71406	2.671000	0.90904	0.650000	0.86243	GGA	SLC23A3	-	pfam_Xant/urac/vitC	ENSG00000213901		0.647	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC23A3	HGNC	protein_coding	OTTHUMT00000336331.2	23	0.00	0	C	NM_144712		220029949	220029949	-1	no_errors	ENST00000455516	ensembl	human	known	69_37n	missense	4	63.64	7	SNP	1.000	T
SLC29A4	222962	genome.wustl.edu	37	7	5330800	5330800	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr7:5330800C>T	ENST00000396872.3	+	4	508	c.347C>T	c.(346-348)gCa>gTa	p.A116V	SLC29A4_ENST00000297195.4_Missense_Mutation_p.A116V|SLC29A4_ENST00000406453.3_Missense_Mutation_p.A116V			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	116					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	ATCTTGGTGGCACTGGCAGCT	0.642																																						dbGAP											0													100.0	86.0	90.0					7																	5330800		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.347C>T	7.37:g.5330800C>T	ENSP00000380081:p.Ala116Val		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.A116V	ENST00000396872.3	37	c.347	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	.	22.5	4.295061	0.81025	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.25	4.25	0.50352	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.85130	0.997;0.871	T	0.60652	-0.7221	10	0.62326	D	0.03	-16.4267	14.4336	0.67266	0.0:1.0:0.0:0.0	.	116;116	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	V	116	ENSP00000406803:A116V;ENSP00000380081:A116V;ENSP00000413271:A116V;ENSP00000297195:A116V;ENSP00000385845:A116V	ENSP00000297195:A116V	A	+	2	0	SLC29A4	5297326	1.000000	0.71417	0.904000	0.35570	0.570000	0.35934	5.229000	0.65316	1.926000	0.55796	0.561000	0.74099	GCA	SLC29A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000164638		0.642	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	89	0.00	0	C	NM_153247		5330800	5330800	+1	no_errors	ENST00000297195	ensembl	human	known	69_37n	missense	21	29.03	9	SNP	0.998	T
SMYD1	150572	genome.wustl.edu	37	2	88396186	88396186	+	Missense_Mutation	SNP	C	C	A	rs372144239		TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr2:88396186C>A	ENST00000419482.2	+	6	856	c.771C>A	c.(769-771)aaC>aaA	p.N257K	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.N244K	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	257					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ACTTCCTCAACGTTAGTGAAG	0.488																																						dbGAP											0													109.0	102.0	105.0					2																	88396186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.771C>A	2.37:g.88396186C>A	ENSP00000393453:p.Asn257Lys		A0AV30|A6NE13	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.N257K	ENST00000419482.2	37	c.771	CCDS33240.1	2	.	.	.	.	.	.	.	.	.	.	C	2.493	-0.317056	0.05386	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.22945	1.94;1.93	5.62	-9.25	0.00666	SET domain (1);	0.134423	0.64402	D	0.000004	T	0.14227	0.0344	L	0.39245	1.2	0.30278	N	0.791571	B	0.02656	0.0	B	0.08055	0.003	T	0.13072	-1.0523	10	0.20046	T	0.44	-11.6586	13.2311	0.59945	0.0:0.5936:0.0884:0.318	.	257	Q8NB12	SMYD1_HUMAN	K	257;244;78	ENSP00000393453:N257K;ENSP00000407888:N244K	ENSP00000295833:N78K	N	+	3	2	SMYD1	88177301	0.000000	0.05858	0.094000	0.20943	0.000000	0.00434	-3.413000	0.00479	-1.651000	0.01504	-0.882000	0.02950	AAC	SMYD1	-	smart_SET_dom	ENSG00000115593		0.488	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	26	0.00	0	C	XM_097915		88396186	88396186	+1	no_errors	ENST00000419482	ensembl	human	known	69_37n	missense	17	29.17	7	SNP	0.010	A
SNTG1	54212	genome.wustl.edu	37	8	51363130	51363130	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr8:51363130C>A	ENST00000522124.1	+	7	953	c.292C>A	c.(292-294)Cta>Ata	p.L98I	SNTG1_ENST00000517473.1_Missense_Mutation_p.L98I|SNTG1_ENST00000276467.5_Missense_Mutation_p.L98I|SNTG1_ENST00000518864.1_Missense_Mutation_p.L98I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	98	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACTTTCAGGACTACTTTTTAT	0.308																																						dbGAP											0													169.0	160.0	163.0					8																	51363130		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.292C>A	8.37:g.51363130C>A	ENSP00000429842:p.Leu98Ile		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.L98I	ENST00000522124.1	37	c.292	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	C	9.531	1.110901	0.20714	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.32	3.38	0.38709	PDZ/DHR/GLGF (4);	0.065404	0.64402	N	0.000008	T	0.52996	0.1769	L	0.50919	1.6	0.49213	D	0.999769	P;D	0.57257	0.858;0.979	P;D	0.74023	0.491;0.982	T	0.44221	-0.9342	10	0.38643	T	0.18	.	8.7881	0.34835	0.0:0.7967:0.0:0.2033	.	98;98	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	I	98	ENSP00000429276:L98I;ENSP00000429842:L98I;ENSP00000431123:L98I;ENSP00000276467:L98I	ENSP00000276467:L98I	L	+	1	2	SNTG1	51525683	0.549000	0.26481	0.925000	0.36789	0.213000	0.24496	0.477000	0.22196	0.516000	0.28340	0.650000	0.86243	CTA	SNTG1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000147481		0.308	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	158	0.00	0	C			51363130	51363130	+1	no_errors	ENST00000518864	ensembl	human	known	69_37n	missense	92	30.08	40	SNP	0.995	A
SPICE1	152185	genome.wustl.edu	37	3	113164162	113164162	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr3:113164162C>T	ENST00000295872.4	-	18	2819	c.2560G>A	c.(2560-2562)Gta>Ata	p.V854I		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	854					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ACTTATGATACATGGGTAGAA	0.338																																						dbGAP											0													99.0	99.0	99.0					3																	113164162		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2560G>A	3.37:g.113164162C>T	ENSP00000295872:p.Val854Ile		D3DN72|Q8WUX6	Missense_Mutation	SNP	NULL	p.V854I	ENST00000295872.4	37	c.2560	CCDS2973.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.82|11.82	1.751513|1.751513	0.31046|0.31046	.|.	.|.	ENSG00000163611|ENSG00000163611	ENST00000467618|ENST00000295872	.|T	.|0.42900	.|0.96	5.78|5.78	2.26|2.26	0.28386|0.28386	.|.	.|0.400142	.|0.28414	.|N	.|0.015436	T|T	0.18800|0.18800	0.0451|0.0451	N|N	0.11560|0.11560	0.145|0.145	0.29017|0.29017	N|N	0.886523|0.886523	.|B	.|0.13594	.|0.008	.|B	.|0.13407	.|0.009	T|T	0.15009|0.15009	-1.0452|-1.0452	5|10	.|0.20519	.|T	.|0.43	-2.5662|-2.5662	4.8366|4.8366	0.13468|0.13468	0.3296:0.5473:0.0:0.1231|0.3296:0.5473:0.0:0.1231	.|.	.|854	.|Q8N0Z3	.|SPICE_HUMAN	I|I	187|854	.|ENSP00000295872:V854I	.|ENSP00000295872:V854I	M|V	-|-	3|1	0|0	SPICE1|SPICE1	114646852|114646852	0.977000|0.977000	0.34250|0.34250	0.949000|0.949000	0.38748|0.38748	0.933000|0.933000	0.57130|0.57130	0.002000|0.002000	0.13061|0.13061	0.167000|0.167000	0.19631|0.19631	0.591000|0.591000	0.81541|0.81541	ATG|GTA	SPICE1	-	NULL	ENSG00000163611		0.338	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	90	0.00	0	C	NM_144718		113164162	113164162	-1	no_errors	ENST00000295872	ensembl	human	known	69_37n	missense	42	16.00	8	SNP	0.996	T
SRCAP	10847	genome.wustl.edu	37	16	30733941	30733941	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr16:30733941delC	ENST00000262518.4	+	23	4149	c.3764delC	c.(3763-3765)gccfs	p.A1255fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1255	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCCAGCCTGCCCATGTGGCC	0.632																																						dbGAP											0													93.0	99.0	97.0					16																	30733941		2127	4233	6360	-	-	-	SO:0001589	frameshift_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3764delC	16.37:g.30733941delC	ENSP00000262518:p.Ala1255fs		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.H1256fs	ENST00000262518.4	37	c.3764	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	33	0.00	0	C	NM_006662		30733941	30733941	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	frame_shift_del	10	54.17	13	DEL	1.000	-
TBX3	6926	genome.wustl.edu	37	12	115112047	115112047	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr12:115112047C>T	ENST00000257566.3	-	7	2082	c.1693G>A	c.(1693-1695)Gct>Act	p.A565T	TBX3_ENST00000349155.2_Missense_Mutation_p.A545T	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	565	Transcription repression.				anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGCGCCGCAGCGGCAGAGGCC	0.701																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1693G>A	12.37:g.115112047C>T	ENSP00000257566:p.Ala565Thr		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.A565T	ENST00000257566.3	37	c.1693	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638626	0.47153	.	.	ENSG00000135111	ENST00000349155;ENST00000257566	D;D	0.87412	-2.25;-2.24	5.17	4.28	0.50868	.	7.046030	0.00166	N	0.000012	D	0.84515	0.5489	L	0.54323	1.7	0.09310	N	1	P;B	0.50710	0.938;0.138	B;B	0.39419	0.299;0.004	T	0.69647	-0.5089	10	0.27785	T	0.31	.	7.8143	0.29249	0.1602:0.7574:0.0:0.0824	.	545;565	O15119-2;O15119	.;TBX3_HUMAN	T	545;565	ENSP00000257567:A545T;ENSP00000257566:A565T	ENSP00000257566:A565T	A	-	1	0	TBX3	113596430	0.750000	0.28316	0.164000	0.22755	0.982000	0.71751	2.081000	0.41596	1.161000	0.42604	0.585000	0.79938	GCT	TBX3	-	NULL	ENSG00000135111		0.701	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	39	0.00	0	C	NM_016569, NM_005996		115112047	115112047	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	missense	0	91.67	11	SNP	0.129	T
TMEM132B	114795	genome.wustl.edu	37	12	125834062	125834062	+	Silent	SNP	C	C	A	rs570981472		TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr12:125834062C>A	ENST00000299308.3	+	2	125	c.117C>A	c.(115-117)ccC>ccA	p.P39P	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	39						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTACCTCCCCACGAACTTGC	0.507																																						dbGAP											0													137.0	136.0	136.0					12																	125834062		1945	4155	6100	-	-	-	SO:0001819	synonymous_variant	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.117C>A	12.37:g.125834062C>A			A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	NULL	p.P39	ENST00000299308.3	37	c.117	CCDS41859.1	12																																																																																			TMEM132B	-	NULL	ENSG00000139364		0.507	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	60	0.00	0	C	NM_052907		125834062	125834062	+1	no_errors	ENST00000299308	ensembl	human	known	69_37n	silent	17	39.29	11	SNP	0.000	A
TNFRSF10B	8795	genome.wustl.edu	37	8	22880477	22880477	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr8:22880477C>A	ENST00000276431.4	-	9	1314	c.1030G>T	c.(1030-1032)Gac>Tac	p.D344Y	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.D315Y|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.D164Y	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	344	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TCTGCAAAGTCATCGAAGCAC	0.557																																					GBM(94;1064 1342 1839 21060 42553)	dbGAP											0													53.0	46.0	49.0					8																	22880477		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.1030G>T	8.37:g.22880477C>A	ENSP00000276431:p.Asp344Tyr		O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pirsf_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10	p.D344Y	ENST00000276431.4	37	c.1030	CCDS6035.1	8	.	.	.	.	.	.	.	.	.	.	c	11.14	1.550499	0.27739	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	D;D;D	0.86230	-2.09;-2.09;-2.09	4.81	-9.63	0.00544	Death (2);DEATH-like (2);	19.986600	0.02286	N	0.069872	T	0.67627	0.2913	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.22003	0.006;0.001;0.001;0.063;0.007	B;B;B;B;B	0.14023	0.006;0.002;0.002;0.01;0.005	T	0.61922	-0.6963	10	0.35671	T	0.21	.	2.4755	0.04575	0.1093:0.3313:0.2638:0.2956	.	164;344;344;315;109	B7Z588;B5BU36;O14763;O14763-2;Q7Z2I8	.;.;TR10B_HUMAN;.;.	Y	344;315;164	ENSP00000276431:D344Y;ENSP00000317859:D315Y;ENSP00000443386:D164Y	ENSP00000276431:D344Y	D	-	1	0	TNFRSF10B	22936422	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.237000	0.00545	-3.074000	0.00252	-2.596000	0.00163	GAC	TNFRSF10B	-	pfam_Death,superfamily_DEATH-like,smart_Death,pirsf_TNFR_10	ENSG00000120889		0.557	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFRSF10B	HGNC	protein_coding	OTTHUMT00000215099.2	25	0.00	0	C	NM_147187		22880477	22880477	-1	no_errors	ENST00000276431	ensembl	human	known	69_37n	missense	3	70.00	7	SNP	0.000	A
TP53	7157	genome.wustl.edu	37	17	7577558	7577558	+	Frame_Shift_Del	DEL	G	G	-	rs397516437		TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr17:7577558delG	ENST00000269305.4	-	7	912	c.723delC	c.(721-723)tccfs	p.S241fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S241fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242fs*5(9)|p.0?(8)|p.?(5)|p.S241del(5)|p.S241F(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGCCCATGCAGGAACTGTTAC	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	50	Deletion - In frame(13)|Deletion - Frameshift(13)|Whole gene deletion(8)|Unknown(5)|Substitution - Missense(5)|Substitution - coding silent(3)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	large_intestine(8)|biliary_tract(6)|breast(5)|upper_aerodigestive_tract(4)|stomach(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|central_nervous_system(2)|urinary_tract(2)|oesophagus(2)|skin(2)|eye(2)|pancreas(2)|liver(1)											138.0	107.0	117.0					17																	7577558		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.723delC	17.37:g.7577558delG	ENSP00000269305:p.Ser241fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C242fs	ENST00000269305.4	37	c.723	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	59	0.00	0	G	NM_000546		7577558	7577558	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	4	77.78	14	DEL	1.000	-
TRIO	7204	genome.wustl.edu	37	5	14358322	14358322	+	Silent	SNP	G	G	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr5:14358322G>T	ENST00000344204.4	+	12	2106	c.2082G>T	c.(2080-2082)ctG>ctT	p.L694L	TRIO_ENST00000509967.2_Silent_p.L645L|TRIO_ENST00000537187.1_Silent_p.L694L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	694					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGAAGGAGCTGCTGGACGACG	0.677																																						dbGAP											0													59.0	49.0	53.0					5																	14358322		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2082G>T	5.37:g.14358322G>T			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.L694	ENST00000344204.4	37	c.2082	CCDS3883.1	5																																																																																			TRIO	-	smart_Spectrin/alpha-actinin	ENSG00000038382		0.677	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	43	0.00	0	G	NM_007118		14358322	14358322	+1	no_errors	ENST00000344204	ensembl	human	known	69_37n	silent	19	40.62	13	SNP	1.000	T
TSC22D2	9819	genome.wustl.edu	37	3	150128829	150128829	+	Silent	SNP	C	C	G			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr3:150128829C>G	ENST00000361875.3	+	1	2708	c.1692C>G	c.(1690-1692)ggC>ggG	p.G564G	TSC22D2_ENST00000361136.2_Silent_p.G564G	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	564					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TAGCGCCAGGCACACACAGCG	0.557																																						dbGAP											0													124.0	106.0	112.0					3																	150128829		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.1692C>G	3.37:g.150128829C>G			D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	NULL	p.A25G	ENST00000361875.3	37	c.74	CCDS3149.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.289|7.289	0.610602|0.610602	0.14066|0.14066	.|.	.|.	ENSG00000196428|ENSG00000196428	ENST00000480589|ENST00000466814	.|.	.|.	.|.	4.66|4.66	2.85|2.85	0.33270|0.33270	.|.	.|.	.|.	.|.	.|.	T|T	0.53302|0.53302	0.1788|0.1788	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42932|0.42932	-0.9422|-0.9422	4|4	.|.	.|.	.|.	.|.	5.0857|5.0857	0.14680|0.14680	0.1595:0.6225:0.0:0.218|0.1595:0.6225:0.0:0.218	.|.	.|.	.|.	.|.	G|D	25|12	.|.	.|.	A|H	+|+	2|1	0|0	TSC22D2|TSC22D2	151611519|151611519	0.084000|0.084000	0.21492|0.21492	0.970000|0.970000	0.41538|0.41538	0.892000|0.892000	0.51952|0.51952	0.353000|0.353000	0.20130|0.20130	0.403000|0.403000	0.25479|0.25479	-0.475000|-0.475000	0.04921|0.04921	GCA|CAC	TSC22D2	-	NULL	ENSG00000196428		0.557	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	TSC22D2	HGNC	protein_coding	OTTHUMT00000357123.2	50	0.00	0	C	NM_014779		150128829	150128829	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000480589	ensembl	human	putative	69_37n	missense	18	33.33	9	SNP	0.866	G
UTP14A	10813	genome.wustl.edu	37	X	129053383	129053383	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chrX:129053383C>T	ENST00000394422.3	+	8	698	c.670C>T	c.(670-672)Cga>Tga	p.R224*	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Nonsense_Mutation_p.R56*|UTP14A_ENST00000371051.5_Nonsense_Mutation_p.R170*|UTP14A_ENST00000425117.2_Nonsense_Mutation_p.R172*	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	224					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAGATGCGACGAGCAGAGCT	0.522																																						dbGAP											0													101.0	95.0	97.0					X																	129053383		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.670C>T	X.37:g.129053383C>T	ENSP00000377944:p.Arg224*		A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Nonsense_Mutation	SNP	pfam_SSU_processome_Utp14	p.R224*	ENST00000394422.3	37	c.670	CCDS14615.1	X	.	.	.	.	.	.	.	.	.	.	C	38	6.708305	0.97780	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	.	.	.	6.06	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7562	14.3957	0.67010	0.2746:0.7254:0.0:0.0	.	.	.	.	X	172;224;170;56;56	.	ENSP00000360081:R56X	R	+	1	2	UTP14A	128881064	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	3.705000	0.54823	0.602000	0.29896	0.600000	0.82982	CGA	UTP14A	-	pfam_SSU_processome_Utp14	ENSG00000156697		0.522	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	66	0.00	0	C	NM_006649		129053383	129053383	+1	no_errors	ENST00000394422	ensembl	human	known	69_37n	nonsense	27	30.77	12	SNP	1.000	T
XPO4	64328	genome.wustl.edu	37	13	21417184	21417184	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LR-01A-12D-A18P-09	TCGA-AR-A2LR-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed8d901f-d8ed-4c26-a7a0-a0baa383b0d2	8f2265a8-ea26-41f4-acf5-89c798d85e8f	g.chr13:21417184C>T	ENST00000255305.6	-	6	648	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	XPO4_ENST00000400602.2_Missense_Mutation_p.E193K			Q9C0E2	XPO4_HUMAN	exportin 4	193					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CGAAGGTCTTCTTCCTATAGT	0.338																																						dbGAP											0													35.0	34.0	34.0					13																	21417184		1872	4104	5976	-	-	-	SO:0001583	missense	0			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.577G>A	13.37:g.21417184C>T	ENSP00000255305:p.Glu193Lys		Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E193K	ENST00000255305.6	37	c.577	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890026	0.72524	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.21734	1.99;1.99	5.89	5.89	0.94794	Armadillo-type fold (1);	0.138441	0.64402	D	0.000004	T	0.12817	0.0311	N	0.11201	0.11	0.58432	D	0.999999	B	0.15930	0.015	B	0.10450	0.005	T	0.13045	-1.0524	10	0.06625	T	0.88	-10.6474	20.2576	0.98430	0.0:1.0:0.0:0.0	.	193	Q9C0E2	XPO4_HUMAN	K	193;63;193	ENSP00000383444:E193K;ENSP00000255305:E193K	ENSP00000255305:E193K	E	-	1	0	XPO4	20315184	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.487000	0.81328	2.783000	0.95769	0.655000	0.94253	GAA	XPO4	-	superfamily_ARM-type_fold	ENSG00000132953		0.338	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	28	0.00	0	C	NM_022459		21417184	21417184	-1	no_errors	ENST00000255305	ensembl	human	known	69_37n	missense	14	44.00	11	SNP	1.000	T
