#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
ABCC8	6833	genome.wustl.edu	37	11	17464360	17464360	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr11:17464360C>T	ENST00000389817.3	-	10	1605	c.1537G>A	c.(1537-1539)Gcc>Acc	p.A513T	ABCC8_ENST00000528202.1_5'Flank|ABCC8_ENST00000302539.4_Missense_Mutation_p.A513T			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	513	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TTCTCCCAGGCGTACAGCTTC	0.597																																						dbGAP											0													100.0	91.0	94.0					11																	17464360		2200	4293	6493	-	-	-	SO:0001583	missense	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1537G>A	11.37:g.17464360C>T	ENSP00000374467:p.Ala513Thr		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.A513T	ENST00000389817.3	37	c.1537	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.956298	0.97145	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.89939	-2.59;-2.59	6.02	6.02	0.97574	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95714	0.8606	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.981	D	0.95546	0.8616	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	512;513	B7Z4N0;Q09428	.;ABCC8_HUMAN	T	513;513;527	ENSP00000374467:A513T;ENSP00000303960:A513T	ENSP00000303960:A513T	A	-	1	0	ABCC8	17420936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.807000	0.86032	2.865000	0.98341	0.655000	0.94253	GCC	ABCC8	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000006071		0.597	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	118	0.00	0	C	NM_000352		17464360	17464360	-1	no_errors	ENST00000302539	ensembl	human	known	69_37n	missense	70	43.09	53	SNP	1.000	T
ABCF1	23	genome.wustl.edu	37	6	30558114	30558114	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr6:30558114C>T	ENST00000326195.8	+	24	2442	c.2330C>T	c.(2329-2331)tCt>tTt	p.S777F	ABCF1_ENST00000376545.3_Missense_Mutation_p.S739F|ABCF1_ENST00000396515.4_Missense_Mutation_p.S170F	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	777	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GACATAGAGTCTATTGATGCT	0.502																																						dbGAP											0													117.0	106.0	110.0					6																	30558114		1511	2709	4220	-	-	-	SO:0001583	missense	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.2330C>T	6.37:g.30558114C>T	ENSP00000313603:p.Ser777Phe		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S777F	ENST00000326195.8	37	c.2330	CCDS34380.1	6	.	.	.	.	.	.	.	.	.	.	c	18.14	3.557339	0.65425	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000396515	D;D;D	0.84223	-1.82;-1.82;-1.82	5.5	5.5	0.81552	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.055304	0.85682	D	0.000000	D	0.94440	0.8211	H	0.96048	3.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.987;0.982	D	0.95741	0.8783	10	0.87932	D	0	-15.6845	16.3211	0.82951	0.0:1.0:0.0:0.0	.	170;739;777	Q5STZ7;Q2L6I2;Q8NE71	.;.;ABCF1_HUMAN	F	777;739;465;170	ENSP00000313603:S777F;ENSP00000365728:S739F;ENSP00000379772:S170F	ENSP00000313603:S777F	S	+	2	0	ABCF1	30666093	1.000000	0.71417	0.887000	0.34795	0.117000	0.20001	7.482000	0.81143	2.600000	0.87896	0.651000	0.88453	TCT	ABCF1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000204574		0.502	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3	338	0.00	0	C			30558114	30558114	+1	no_errors	ENST00000326195	ensembl	human	known	69_37n	missense	326	36.87	191	SNP	1.000	T
ACSM2B	348158	genome.wustl.edu	37	16	20554293	20554293	+	Silent	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr16:20554293C>T	ENST00000329697.6	-	12	1620	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Silent_p.K484K|ACSM2B_ENST00000565232.1_Silent_p.K484K|ACSM2B_ENST00000565322.1_Silent_p.K405K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	484					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						CAGCAGGGTGCTTCATCAGTG	0.572																																						dbGAP											0													137.0	129.0	132.0					16																	20554293		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	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.1452G>A	16.37:g.20554293C>T			Q86YT1	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.K484	ENST00000329697.6	37	c.1452	CCDS10586.1	16																																																																																			ACSM2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066813		0.572	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	141	0.00	0	C	NM_182617		20554293	20554293	-1	no_errors	ENST00000329697	ensembl	human	known	69_37n	silent	167	37.82	104	SNP	0.998	T
AFAP1L1	134265	genome.wustl.edu	37	5	148702185	148702185	+	Missense_Mutation	SNP	G	G	A	rs559848026		TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr5:148702185G>A	ENST00000296721.4	+	15	1813	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R572H	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	572						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCCGAGCGCCCCACAGGG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		16506	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													23.0	22.0	22.0					5																	148702185		2197	4294	6491	-	-	-	SO:0001583	missense	0			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1715G>A	5.37:g.148702185G>A	ENSP00000296721:p.Arg572His		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R572H	ENST00000296721.4	37	c.1715	CCDS34274.1	5	.	.	.	.	.	.	.	.	.	.	G	10.15	1.272484	0.23221	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.17213	2.29;2.29	5.39	4.53	0.55603	.	0.261764	0.41097	D	0.000952	T	0.16041	0.0386	L	0.44542	1.39	0.50813	D	0.999894	B;B	0.15141	0.012;0.01	B;B	0.09377	0.004;0.003	T	0.03344	-1.1046	10	0.29301	T	0.29	-7.1717	13.9545	0.64140	0.0733:0.0:0.9267:0.0	.	572;572	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	H	572	ENSP00000296721:R572H;ENSP00000424427:R572H	ENSP00000296721:R572H	R	+	2	0	AFAP1L1	148682378	1.000000	0.71417	0.791000	0.31998	0.243000	0.25628	1.889000	0.39718	1.512000	0.48834	0.555000	0.69702	CGC	AFAP1L1	-	NULL	ENSG00000157510		0.602	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1L1	HGNC	protein_coding	OTTHUMT00000373443.1	11	0.00	0	G	NM_152406		148702185	148702185	+1	no_errors	ENST00000296721	ensembl	human	known	69_37n	missense	7	50.00	7	SNP	0.999	A
ALMS1	7840	genome.wustl.edu	37	2	73646388	73646388	+	Silent	SNP	G	G	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr2:73646388G>A	ENST00000264448.6	+	3	699	c.588G>A	c.(586-588)acG>acA	p.T196T	ALMS1_ENST00000409009.1_Silent_p.T154T|ALMS1_ENST00000377715.1_Silent_p.T196T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	196					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCATATTGACGCAATCAGAAA	0.418																																						dbGAP											0													138.0	134.0	135.0					2																	73646388		1840	4099	5939	-	-	-	SO:0001819	synonymous_variant	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.588G>A	2.37:g.73646388G>A			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.T196	ENST00000264448.6	37	c.588	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.418	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	358	0.28	1	G	NM_015120		73646388	73646388	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	silent	776	12.32	109	SNP	0.009	A
ANGPT4	51378	genome.wustl.edu	37	20	896809	896809	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr20:896809C>A	ENST00000381922.3	-	1	151	c.49G>T	c.(49-51)Gcc>Tcc	p.A17S	ANGPT4_ENST00000546022.1_Missense_Mutation_p.A17S	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	17					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GACATGGTGGCAACCACAAGG	0.592																																					Pancreas(181;481 2077 3259 31286 49856)	dbGAP											0													73.0	68.0	70.0					20																	896809		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.49G>T	20.37:g.896809C>A	ENSP00000371347:p.Ala17Ser		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.A17S	ENST00000381922.3	37	c.49	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388065	0.25118	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.52295	0.67;1.48	4.57	3.54	0.40534	.	0.640961	0.12806	N	0.437584	T	0.33962	0.0881	L	0.32530	0.975	0.09310	N	1	P;P	0.43024	0.798;0.798	B;B	0.39465	0.3;0.3	T	0.13629	-1.0502	10	0.45353	T	0.12	.	6.7488	0.23475	0.0:0.8697:0.0:0.1303	.	17;17	B4E3J9;Q9Y264	.;ANGP4_HUMAN	S	17	ENSP00000371347:A17S;ENSP00000439605:A17S	ENSP00000371347:A17S	A	-	1	0	ANGPT4	844809	0.931000	0.31567	0.923000	0.36655	0.306000	0.27790	1.816000	0.38992	2.376000	0.81061	0.305000	0.20034	GCC	ANGPT4	-	NULL	ENSG00000101280		0.592	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	223	0.00	0	C	NM_015985		896809	896809	-1	no_errors	ENST00000381922	ensembl	human	known	69_37n	missense	228	11.97	31	SNP	0.163	A
ANKFY1	51479	genome.wustl.edu	37	17	4085564	4085564	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr17:4085564C>G	ENST00000341657.4	-	15	2068	c.2033G>C	c.(2032-2034)gGa>gCa	p.G678A	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.G720A|ANKFY1_ENST00000573722.1_5'Flank|ANKFY1_ENST00000574367.1_Missense_Mutation_p.G679A	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	678	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CATGTCAGCTCCTCGGGTGCA	0.577																																						dbGAP											0													138.0	138.0	138.0					17																	4085564		2012	4172	6184	-	-	-	SO:0001583	missense	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2033G>C	17.37:g.4085564C>G	ENSP00000343362:p.Gly678Ala		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.G720A	ENST00000341657.4	37	c.2159		17	.	.	.	.	.	.	.	.	.	.	C	32	5.180613	0.94846	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.61	5.61	0.85477	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.87422	0.6173	H	0.94808	3.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	D	0.90523	0.4490	9	0.87932	D	0	-14.7108	18.6192	0.91315	0.0:1.0:0.0:0.0	.	620;678;679;720	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	A	679;620	.	ENSP00000343362:G679A	G	-	2	0	ANKFY1	4032313	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.783000	0.85696	2.641000	0.89580	0.650000	0.86243	GGA	ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000185722		0.577	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	145	0.68	1	C	NM_016376		4085564	4085564	-1	no_errors	ENST00000570535	ensembl	human	known	69_37n	missense	316	12.71	46	SNP	1.000	G
ATXN2L	11273	genome.wustl.edu	37	16	28843677	28843677	+	Silent	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr16:28843677C>T	ENST00000336783.4	+	11	1640	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	ATXN2L_ENST00000340394.8_Silent_p.S491S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Silent_p.S497S|ATXN2L_ENST00000570200.1_Silent_p.S491S|ATXN2L_ENST00000325215.6_Silent_p.S491S|ATXN2L_ENST00000382686.4_Silent_p.S491S|ATXN2L_ENST00000395547.2_Silent_p.S491S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	491					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAGTGGGCTCCATTTCTCCAG	0.532																																						dbGAP											0													81.0	86.0	84.0					16																	28843677		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1473C>T	16.37:g.28843677C>T			A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.S491	ENST00000336783.4	37	c.1473	CCDS10641.1	16																																																																																			ATXN2L	-	NULL	ENSG00000168488		0.532	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	45	0.00	0	C	NM_007245		28843677	28843677	+1	no_errors	ENST00000395547	ensembl	human	known	69_37n	silent	90	19.64	22	SNP	0.977	T
CABP5	56344	genome.wustl.edu	37	19	48542565	48542565	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr19:48542565C>T	ENST00000293255.2	-	4	378	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	83	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)	p.R83H(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AAAGTCTACACGGCCACCCAC	0.537																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											146.0	105.0	119.0					19																	48542565		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.248G>A	19.37:g.48542565C>T	ENSP00000293255:p.Arg83His		A0AUY4	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R83H	ENST00000293255.2	37	c.248	CCDS12709.1	19	.	.	.	.	.	.	.	.	.	.	C	9.980	1.227909	0.22542	.	.	ENSG00000105507	ENST00000293255	T	0.10005	2.92	4.51	4.51	0.55191	EF-hand-like domain (1);	0.061993	0.64402	D	0.000009	T	0.09024	0.0223	L	0.35723	1.085	0.50467	D	0.999877	B	0.06786	0.001	B	0.04013	0.001	T	0.10567	-1.0624	10	0.40728	T	0.16	-6.2328	9.1879	0.37182	0.0:0.8979:0.0:0.1021	.	83	Q9NP86	CABP5_HUMAN	H	83	ENSP00000293255:R83H	ENSP00000293255:R83H	R	-	2	0	CABP5	53234377	0.118000	0.22208	1.000000	0.80357	0.996000	0.88848	0.479000	0.22228	2.459000	0.83118	0.655000	0.94253	CGT	CABP5	-	NULL	ENSG00000105507		0.537	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABP5	HGNC	protein_coding	OTTHUMT00000465212.1	175	0.00	0	C	NM_019855		48542565	48542565	-1	no_errors	ENST00000293255	ensembl	human	known	69_37n	missense	108	57.09	145	SNP	1.000	T
CACNA1B	774	genome.wustl.edu	37	9	140953542	140953542	+	Silent	SNP	A	A	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr9:140953542A>T	ENST00000371372.1	+	30	4630	c.4485A>T	c.(4483-4485)gcA>gcT	p.A1495A	CACNA1B_ENST00000371355.4_Silent_p.A1496A|CACNA1B_ENST00000371357.1_Silent_p.A1496A|CACNA1B_ENST00000277549.5_Silent_p.A691A|CACNA1B_ENST00000277551.2_Silent_p.A1495A|CACNA1B_ENST00000371363.1_Silent_p.A1495A	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1495					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTATGATGCACCCTATGAGT	0.542																																						dbGAP											0													121.0	111.0	115.0					9																	140953542		2108	4229	6337	-	-	-	SO:0001819	synonymous_variant	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4485A>T	9.37:g.140953542A>T			B1AQK5	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.A1496	ENST00000371372.1	37	c.4488	CCDS59522.1	9																																																																																			CACNA1B	-	NULL	ENSG00000148408		0.542	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	14	0.00	0	A	NM_000718		140953542	140953542	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	silent	15	27.27	6	SNP	0.007	T
CCDC83	220047	genome.wustl.edu	37	11	85593657	85593659	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr11:85593657_85593659delTGT	ENST00000342404.3	+	4	498_500	c.282_284delTGT	c.(280-285)gatgtt>gat	p.V95del	CCDC83_ENST00000376067.1_In_Frame_Del_p.V52del|CCDC83_ENST00000280245.4_In_Frame_Del_p.V95del|CCDC83_ENST00000529676.2_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	95										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAAGAGAGGATGTTGAAGAAGCG	0.399																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.282_284delTGT	11.37:g.85593657_85593659delTGT	ENSP00000344512:p.Val95del		B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	In_Frame_Del	DEL	NULL	p.V95in_frame_del	ENST00000342404.3	37	c.282_284		11																																																																																			CCDC83	-	NULL	ENSG00000150676		0.399	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	CCDC83	HGNC	protein_coding	OTTHUMT00000392215.1	194	0.00	0	TGT	NM_173556		85593657	85593659	+1	no_errors	ENST00000280245	ensembl	human	known	69_37n	in_frame_del	181	54.75	242	DEL	0.558:0.937:0.949	-
CDHR1	92211	genome.wustl.edu	37	10	85956341	85956341	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr10:85956341A>G	ENST00000372117.3	+	3	335	c.232A>G	c.(232-234)Aga>Gga	p.R78G	CDHR1_ENST00000332904.3_Missense_Mutation_p.R78G	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.R78G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCCAGCACTAGAAGCGTCTT	0.552																																						dbGAP											1	Substitution - Missense(1)	liver(1)											144.0	127.0	133.0					10																	85956341		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.232A>G	10.37:g.85956341A>G	ENSP00000361189:p.Arg78Gly		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R78G	ENST00000372117.3	37	c.232	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	A	14.57	2.575255	0.45902	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.48522	0.81;0.81	5.57	4.37	0.52481	Cadherin (4);Cadherin-like (1);	0.097154	0.64402	D	0.000001	T	0.51907	0.1702	L	0.45470	1.425	0.80722	D	1	P;P	0.51653	0.935;0.947	P;P	0.56563	0.604;0.801	T	0.41945	-0.9480	10	0.22706	T	0.39	-20.138	11.4384	0.50081	0.8492:0.1507:0.0:0.0	.	78;78	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	G	78	ENSP00000331063:R78G;ENSP00000361189:R78G	ENSP00000331063:R78G	R	+	1	2	CDHR1	85946321	1.000000	0.71417	0.632000	0.29296	0.551000	0.35334	6.323000	0.72891	2.124000	0.65301	0.459000	0.35465	AGA	CDHR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000148600		0.552	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	35	0.00	0	A	NM_033100		85956341	85956341	+1	no_errors	ENST00000372117	ensembl	human	known	69_37n	missense	46	43.21	35	SNP	0.979	G
CEP135	9662	genome.wustl.edu	37	4	56819315	56819315	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr4:56819315G>C	ENST00000257287.4	+	3	302	c.178G>C	c.(178-180)Gaa>Caa	p.E60Q	CEP135_ENST00000422247.2_Missense_Mutation_p.E60Q	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	60					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGCTGAAAAAGAAAGTGCCAA	0.313																																						dbGAP											0													61.0	67.0	65.0					4																	56819315		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.178G>C	4.37:g.56819315G>C	ENSP00000257287:p.Glu60Gln		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	superfamily_Prefoldin	p.E60Q	ENST00000257287.4	37	c.178	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127113	0.77549	.	.	ENSG00000174799	ENST00000422247;ENST00000257287	T	0.52526	0.66	5.46	5.46	0.80206	.	0.113435	0.64402	D	0.000017	T	0.51058	0.1652	M	0.65975	2.015	0.80722	D	1	P;B	0.36222	0.544;0.077	B;B	0.35312	0.2;0.028	T	0.55903	-0.8067	10	0.56958	D	0.05	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	60;60	Q66GS9;Q66GS9-2	CP135_HUMAN;.	Q	60	ENSP00000257287:E60Q	ENSP00000257287:E60Q	E	+	1	0	CEP135	56514072	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.675000	0.98638	2.539000	0.85634	0.650000	0.86243	GAA	CEP135	-	NULL	ENSG00000174799		0.313	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	14	0.00	0	G	NM_025009		56819315	56819315	+1	no_errors	ENST00000257287	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	1.000	C
CLCN3	1182	genome.wustl.edu	37	4	170610225	170610225	+	Silent	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr4:170610225C>T	ENST00000513761.1	+	5	1009	c.450C>T	c.(448-450)gcC>gcT	p.A150A	CLCN3_ENST00000504131.2_Silent_p.A133A|CLCN3_ENST00000347613.4_Silent_p.A150A|CLCN3_ENST00000360642.3_Silent_p.A150A	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	150					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ACATTGCTGCCGATTGGATGA	0.413																																						dbGAP											0													159.0	156.0	157.0					4																	170610225		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.450C>T	4.37:g.170610225C>T			B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-3	p.A150	ENST00000513761.1	37	c.450	CCDS34101.1	4																																																																																			CLCN3	-	superfamily_Cl-channel_core	ENSG00000109572		0.413	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLCN3	HGNC	protein_coding	OTTHUMT00000363210.2	50	0.00	0	C			170610225	170610225	+1	no_errors	ENST00000347613	ensembl	human	known	69_37n	silent	70	65.20	133	SNP	0.929	T
CDKN2AIP	55602	genome.wustl.edu	37	4	184367943	184367943	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr4:184367943C>T	ENST00000504169.1	+	3	1313	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	369	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GTAGCTGCATCACTACTAGCT	0.483																																						dbGAP											0													86.0	87.0	87.0					4																	184367943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1106C>T	4.37:g.184367943C>T	ENSP00000427108:p.Ser369Leu		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	pfam_DUF3469,pfscan_Ds-RNA-bd	p.S369L	ENST00000504169.1	37	c.1106	CCDS34110.1	4	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680500	0.29872	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.48	5.48	0.80851	.	0.137422	0.34110	N	0.004260	T	0.64382	0.2593	L	0.61218	1.895	0.80722	D	1	P	0.35745	0.518	B	0.37650	0.255	T	0.67538	-0.5645	9	0.66056	D	0.02	-3.8492	17.7249	0.88362	0.0:1.0:0.0:0.0	.	369	Q9NXV6	CARF_HUMAN	L	369	.	ENSP00000427108:S369L	S	+	2	0	CDKN2AIP	184604937	0.002000	0.14202	0.341000	0.25589	0.428000	0.31595	1.451000	0.35145	2.861000	0.98227	0.650000	0.86243	TCA	CDKN2AIP	-	NULL	ENSG00000168564		0.483	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2AIP	HGNC	protein_coding	OTTHUMT00000361488.1	38	0.00	0	C	NM_017632		184367943	184367943	+1	no_errors	ENST00000504169	ensembl	human	known	69_37n	missense	132	16.35	26	SNP	0.679	T
COL6A3	1293	genome.wustl.edu	37	2	238280902	238280902	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr2:238280902G>T	ENST00000295550.4	-	9	4210	c.3758C>A	c.(3757-3759)aCc>aAc	p.T1253N	COL6A3_ENST00000409809.1_Missense_Mutation_p.T1047N|COL6A3_ENST00000472056.1_Missense_Mutation_p.T646N|COL6A3_ENST00000392003.2_Missense_Mutation_p.T846N|COL6A3_ENST00000353578.4_Missense_Mutation_p.T1047N|COL6A3_ENST00000392004.3_Missense_Mutation_p.T1047N|COL6A3_ENST00000346358.4_Missense_Mutation_p.T1053N|COL6A3_ENST00000347401.3_Missense_Mutation_p.T1052N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1253	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTATGAGGGTGCGAACGTA	0.572																																						dbGAP											0													58.0	55.0	56.0					2																	238280902		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3758C>A	2.37:g.238280902G>T	ENSP00000295550:p.Thr1253Asn		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.T1253N	ENST00000295550.4	37	c.3758	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	3.605	-0.080714	0.07141	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.58	1.31	0.21738	von Willebrand factor, type A (3);	0.503619	0.18153	N	0.150033	T	0.72195	0.3430	N	0.12663	0.25	0.09310	N	1	P;B;B;P;B	0.51057	0.941;0.233;0.425;0.93;0.021	P;B;B;P;B	0.56042	0.739;0.232;0.41;0.79;0.009	T	0.61884	-0.6971	10	0.15952	T	0.53	.	3.8872	0.09103	0.0787:0.2828:0.4051:0.2333	.	646;846;1047;1047;1253	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	N	1253;1052;1047;646;1047;1053;1047;846	ENSP00000295550:T1253N;ENSP00000315609:T1052N;ENSP00000315873:T1047N;ENSP00000418285:T646N;ENSP00000386844:T1047N;ENSP00000295546:T1053N;ENSP00000375861:T1047N;ENSP00000375860:T846N	ENSP00000295550:T1253N	T	-	2	0	COL6A3	237945641	0.001000	0.12720	0.076000	0.20297	0.317000	0.28152	0.888000	0.28268	0.694000	0.31654	0.655000	0.94253	ACC	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.572	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	84	0.00	0	G	NM_004369		238280902	238280902	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	missense	49	46.81	44	SNP	0.000	T
CYLC1	1538	genome.wustl.edu	37	X	83128429	83128429	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chrX:83128429G>T	ENST00000329312.4	+	4	750	c.713G>T	c.(712-714)tGc>tTc	p.C238F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	238					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCAGAGATTTGCTCAGAAAAT	0.333																																						dbGAP											0													35.0	32.0	33.0					X																	83128429		2194	4289	6483	-	-	-	SO:0001583	missense	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.713G>T	X.37:g.83128429G>T	ENSP00000331556:p.Cys238Phe		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.C238F	ENST00000329312.4	37	c.713	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.778999	0.00634	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.50277	0.75	3.74	-4.61	0.03380	.	.	.	.	.	T	0.21267	0.0512	N	0.20986	0.625	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.30475	-0.9977	9	0.09590	T	0.72	11.0289	0.4992	0.00576	0.2754:0.1267:0.2086:0.3893	.	238;238	P35663;F5H4V5	CYLC1_HUMAN;.	F	238	ENSP00000331556:C238F	ENSP00000331556:C238F	C	+	2	0	CYLC1	83015085	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.196000	0.09532	-1.450000	0.01936	-2.502000	0.00191	TGC	CYLC1	-	NULL	ENSG00000183035		0.333	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	169	0.00	0	G	NM_021118		83128429	83128429	+1	no_errors	ENST00000329312	ensembl	human	known	69_37n	missense	66	64.32	119	SNP	0.000	T
DLGAP1	9229	genome.wustl.edu	37	18	3597178	3597178	+	Intron	SNP	A	A	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr18:3597178A>G	ENST00000315677.3	-	8	2187				DLGAP1-AS1_ENST00000575606.1_RNA|DLGAP1_ENST00000534970.1_Intron|DLGAP1-AS1_ENST00000574411.1_RNA|DLGAP1-AS1_ENST00000317114.1_RNA|DLGAP1_ENST00000584874.1_Intron|DLGAP1_ENST00000581699.1_Intron|DLGAP1_ENST00000400150.3_Intron|DLGAP1_ENST00000400145.2_Intron|DLGAP1_ENST00000400149.3_Intron|DLGAP1_ENST00000581527.1_Intron|DLGAP1_ENST00000400147.2_Intron|DLGAP1-AS1_ENST00000577995.1_RNA|DLGAP1_ENST00000400155.1_Intron|DLGAP1_ENST00000515196.2_Intron|DLGAP1-AS1_ENST00000576606.1_RNA|DLGAP1-AS1_ENST00000573355.1_RNA|DLGAP1_ENST00000539435.1_Intron	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1						synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ACACAGATGGATATCTGAGAG	0.388																																						dbGAP											0													52.0	51.0	51.0					18																	3597178		1831	4102	5933	-	-	-	SO:0001627	intron_variant	0			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1592-14932T>C	18.37:g.3597178A>G			A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	RNA	SNP	-	NULL	ENST00000315677.3	37	NULL	CCDS11836.1	18																																																																																			DLGAP1-AS1	-	-	ENSG00000177337		0.388	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1-AS1	HGNC	protein_coding	OTTHUMT00000254394.4	139	0.00	0	A			3597178	3597178	+1	no_errors	ENST00000317114	ensembl	human	known	69_37n	rna	38	64.15	68	SNP	0.000	G
DNAH9	1770	genome.wustl.edu	37	17	11687759	11687759	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr17:11687759C>A	ENST00000262442.4	+	41	8032	c.7964C>A	c.(7963-7965)gCc>gAc	p.A2655D	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2655D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2655	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCGATCTGGCCCTCGCCTTC	0.512																																						dbGAP											0													175.0	165.0	169.0					17																	11687759		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7964C>A	17.37:g.11687759C>A	ENSP00000262442:p.Ala2655Asp		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.A2655D	ENST00000262442.4	37	c.7964	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445597	0.84101	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.41400	1.0;1.0	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	H	0.94808	3.585	0.80722	D	1	D	0.62365	0.991	D	0.72625	0.978	T	0.82647	-0.0354	10	0.87932	D	0	.	19.5182	0.95174	0.0:1.0:0.0:0.0	.	2655	Q9NYC9	DYH9_HUMAN	D	2655;2655;1237	ENSP00000262442:A2655D;ENSP00000414874:A2655D	ENSP00000262442:A2655D	A	+	2	0	DNAH9	11628484	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	7.718000	0.84743	2.615000	0.88500	0.643000	0.83706	GCC	DNAH9	-	NULL	ENSG00000007174		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	493	0.00	0	C	NM_001372		11687759	11687759	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	342	27.08	127	SNP	1.000	A
DNAJC13	23317	genome.wustl.edu	37	3	132193880	132193880	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr3:132193880G>C	ENST00000260818.6	+	22	2644	c.2396G>C	c.(2395-2397)aGa>aCa	p.R799T		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	799					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AATATTGACAGAGAACTTGGA	0.348																																						dbGAP											0													114.0	123.0	120.0					3																	132193880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2396G>C	3.37:g.132193880G>C	ENSP00000260818:p.Arg799Thr		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.R799T	ENST00000260818.6	37	c.2396	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	30	5.049847	0.93740	.	.	ENSG00000138246	ENST00000260818	T	0.18960	2.18	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.61218	1.895	0.80722	D	1	P	0.43477	0.808	B	0.37144	0.242	T	0.08391	-1.0724	10	0.72032	D	0.01	.	19.5832	0.95478	0.0:0.0:1.0:0.0	.	799	O75165	DJC13_HUMAN	T	799	ENSP00000260818:R799T	ENSP00000260818:R799T	R	+	2	0	DNAJC13	133676570	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.623000	0.98386	2.644000	0.89710	0.585000	0.79938	AGA	DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.348	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	47	0.00	0	G	NM_015268		132193880	132193880	+1	no_errors	ENST00000260818	ensembl	human	known	69_37n	missense	111	12.60	16	SNP	1.000	C
DSE	29940	genome.wustl.edu	37	6	116756906	116756906	+	Silent	SNP	T	T	C			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr6:116756906T>C	ENST00000331677.3	+	7	1719	c.1275T>C	c.(1273-1275)cgT>cgC	p.R425R	DSE_ENST00000537543.1_Silent_p.R444R|DSE_ENST00000359564.2_Silent_p.R425R|DSE_ENST00000452085.3_Silent_p.R425R			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	425					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TGGGGGGACGTGCAATATATG	0.388																																						dbGAP											0													70.0	65.0	67.0					6																	116756906		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1275T>C	6.37:g.116756906T>C			Q5R3K6	Silent	SNP	superfamily_Chondroitin_lyas	p.R444	ENST00000331677.3	37	c.1332	CCDS5107.1	6																																																																																			DSE	-	NULL	ENSG00000111817		0.388	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	99	0.00	0	T	NM_013352		116756906	116756906	+1	no_errors	ENST00000537543	ensembl	human	known	69_37n	silent	97	19.83	24	SNP	1.000	C
DSEL	92126	genome.wustl.edu	37	18	65180116	65180116	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr18:65180116T>G	ENST00000310045.7	-	2	3233	c.1760A>C	c.(1759-1761)aAt>aCt	p.N587T	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	577					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGTTTGGGAATTTAAGAGAAG	0.378																																						dbGAP											0													73.0	70.0	71.0					18																	65180116		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1760A>C	18.37:g.65180116T>G	ENSP00000310565:p.Asn587Thr		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.N587T	ENST00000310045.7	37	c.1760	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	T	18.20	3.571717	0.65765	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18338	2.22	5.78	5.78	0.91487	.	0.054977	0.64402	U	0.000002	T	0.34454	0.0898	L	0.57536	1.79	0.52501	D	0.999951	D	0.71674	0.998	P	0.59761	0.863	T	0.01920	-1.1247	10	0.41790	T	0.15	-22.2567	15.7594	0.78067	0.0:0.0:0.0:1.0	.	577	Q8IZU8	DSEL_HUMAN	T	587;577	ENSP00000310565:N587T	ENSP00000310565:N587T	N	-	2	0	DSEL	63331096	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.849000	0.86908	2.210000	0.71456	0.460000	0.39030	AAT	DSEL	-	NULL	ENSG00000171451		0.378	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	60	0.00	0	T	NM_032160		65180116	65180116	-1	no_errors	ENST00000310045	ensembl	human	known	69_37n	missense	75	21.05	20	SNP	1.000	G
EHMT2	10919	genome.wustl.edu	37	6	31864886	31864887	+	Intron	INS	-	-	C			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr6:31864886_31864887insC	ENST00000375537.4	-	2	49				C2_ENST00000469372.1_5'Flank|EHMT2_ENST00000375530.4_Intron|EHMT2_ENST00000395728.3_Frame_Shift_Ins_p.P32fs|EHMT2_ENST00000480912.1_5'Flank|EHMT2_ENST00000375528.4_Frame_Shift_Ins_p.P32fs	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2						DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CCTCTGTGGGGCCCCCCCCTTC	0.718																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.43-120->G	6.37:g.31864894_31864894dupC			B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.P31fs	ENST00000375537.4	37	c.94_93	CCDS4725.1	6																																																																																			EHMT2	-	NULL	ENSG00000204371		0.718	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	8	0.00	0	-	NM_006709		31864886	31864887	-1	no_errors	ENST00000395728	ensembl	human	known	69_37n	frame_shift_ins	22	15.38	4	INS	0.000:0.001	C
EML4	27436	genome.wustl.edu	37	2	42472824	42472824	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr2:42472824A>T	ENST00000318522.5	+	2	467	c.205A>T	c.(205-207)Aaa>Taa	p.K69*	EML4_ENST00000401738.3_Nonsense_Mutation_p.K69*|EML4_ENST00000402711.2_Nonsense_Mutation_p.K69*|EML4_ENST00000482660.1_3'UTR	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	69					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGTCTCAAGTAAAGGTAATTG	0.353			T	ALK	NSCLC																																	dbGAP		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													79.0	76.0	77.0					2																	42472824		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.205A>T	2.37:g.42472824A>T	ENSP00000320663:p.Lys69*		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Nonsense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K69*	ENST00000318522.5	37	c.205	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668681	0.88348	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	.	.	.	5.77	5.77	0.91146	.	0.090150	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.0876	16.3892	0.83528	1.0:0.0:0.0:0.0	.	.	.	.	X	69	.	ENSP00000320663:K69X	K	+	1	0	EML4	42326328	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.072000	0.89496	2.330000	0.79161	0.477000	0.44152	AAA	EML4	-	NULL	ENSG00000143924		0.353	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	92	0.00	0	A	NM_019063		42472824	42472824	+1	no_errors	ENST00000318522	ensembl	human	known	69_37n	nonsense	96	20.66	25	SNP	1.000	T
FAM186B	84070	genome.wustl.edu	37	12	49993820	49993820	+	Missense_Mutation	SNP	C	C	T	rs371185924	byFrequency	TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr12:49993820C>T	ENST00000257894.2	-	4	1764	c.1603G>A	c.(1603-1605)Gtc>Atc	p.V535I	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.V445I|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	535						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTAGCTGGACCCATCTCCGC	0.612																																						dbGAP											0													76.0	73.0	74.0					12																	49993820		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1603G>A	12.37:g.49993820C>T	ENSP00000257894:p.Val535Ile		B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	NULL	p.V535I	ENST00000257894.2	37	c.1603	CCDS8788.1	12	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659698	0.29515	.	.	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.11385	2.78;2.78;2.98	4.79	-4.38	0.03622	.	2.867960	0.01362	N	0.012268	T	0.06735	0.0172	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29274	-1.0017	9	.	.	.	1.9026	4.225	0.10575	0.2585:0.2741:0.0:0.4675	.	445;535	B4DZ15;Q8IYM0	.;F186B_HUMAN	I	445;148;535	ENSP00000438569:V445I;ENSP00000436995:V148I;ENSP00000257894:V535I	.	V	-	1	0	FAM186B	48280087	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-2.019000	0.01442	-1.048000	0.03238	-0.222000	0.12452	GTC	FAM186B	-	NULL	ENSG00000135436		0.612	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM186B	HGNC	protein_coding	OTTHUMT00000394583.2	236	0.42	1	C	NM_032130		49993820	49993820	-1	no_errors	ENST00000257894	ensembl	human	known	69_37n	missense	227	34.96	122	SNP	0.000	T
FMN2	56776	genome.wustl.edu	37	1	240601396	240601396	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr1:240601396C>T	ENST00000319653.9	+	16	5176	c.4946C>T	c.(4945-4947)cCa>cTa	p.P1649L	FMN2_ENST00000545751.1_Missense_Mutation_p.P245L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1649	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTCATGAAACCAAAACTTGGA	0.378																																						dbGAP											0													136.0	134.0	135.0					1																	240601396		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4946C>T	1.37:g.240601396C>T	ENSP00000318884:p.Pro1649Leu		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.P1649L	ENST00000319653.9	37	c.4946	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946596	0.92593	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.19394	2.15;2.15	6.0	6.0	0.97389	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.095504	0.44902	D	0.000404	T	0.55465	0.1922	M	0.86651	2.83	0.80722	D	1	P;D;D	0.76494	0.698;0.999;0.995	P;D;D	0.73708	0.451;0.981;0.97	T	0.59632	-0.7418	10	0.87932	D	0	.	20.5	0.99208	0.0:1.0:0.0:0.0	.	245;278;1649	B4DP05;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	L	1649;245;276;125	ENSP00000318884:P1649L;ENSP00000437918:P245L	ENSP00000318884:P1649L	P	+	2	0	FMN2	238668019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.374000	0.79633	2.856000	0.98102	0.643000	0.83706	CCA	FMN2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000155816		0.378	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	232	0.00	0	C	XM_371352		240601396	240601396	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	missense	401	10.29	46	SNP	1.000	T
FRAS1	80144	genome.wustl.edu	37	4	79391188	79391188	+	Silent	SNP	C	C	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr4:79391188C>A	ENST00000264895.6	+	51	7754	c.7314C>A	c.(7312-7314)ggC>ggA	p.G2438G		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2438					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TAGATGATGGCACGCCTAGAA	0.522																																						dbGAP											0													86.0	87.0	86.0					4																	79391188		2038	4196	6234	-	-	-	SO:0001819	synonymous_variant	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7314C>A	4.37:g.79391188C>A			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.H667N	ENST00000264895.6	37	c.1999	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	C	0.685	-0.796536	0.02862	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.52	1.71	0.24356	.	.	.	.	.	T	0.43634	0.1256	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29366	-1.0014	4	.	.	.	.	2.1996	0.03919	0.1095:0.4167:0.2402:0.2337	.	.	.	.	N	667	.	.	H	+	1	0	FRAS1	79610212	0.974000	0.33945	0.968000	0.41197	0.006000	0.05464	0.175000	0.16762	0.713000	0.32060	0.561000	0.74099	CAC	FRAS1	-	NULL	ENSG00000138759		0.522	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		130	0.00	0	C			79391188	79391188	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000512123	ensembl	human	novel	69_37n	missense	123	18.54	28	SNP	0.997	A
FREM1	158326	genome.wustl.edu	37	9	14824844	14824844	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr9:14824844C>A	ENST00000380880.3	-	11	2811	c.2028G>T	c.(2026-2028)agG>agT	p.R676S	FREM1_ENST00000422223.2_Missense_Mutation_p.R676S|FREM1_ENST00000380881.4_Missense_Mutation_p.R677S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	676					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGACCAGCTCCCTGTCATATG	0.418																																						dbGAP											0													64.0	62.0	63.0					9																	14824844		1852	4090	5942	-	-	-	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2028G>T	9.37:g.14824844C>A	ENSP00000370262:p.Arg676Ser		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.R677S	ENST00000380880.3	37	c.2031	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	9.577	1.122474	0.20877	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.41065	1.01;1.01;1.01	5.92	4.09	0.47781	.	0.240242	0.52532	D	0.000061	T	0.29256	0.0728	L	0.41824	1.3	0.41187	D	0.986276	B	0.11235	0.004	B	0.12156	0.007	T	0.07158	-1.0787	10	0.10377	T	0.69	-1.4131	8.5916	0.33690	0.0:0.715:0.0:0.285	.	676	Q5H8C1	FREM1_HUMAN	S	677;676;676	ENSP00000370263:R677S;ENSP00000412940:R676S;ENSP00000370262:R676S	ENSP00000370257:R679S	R	-	3	2	FREM1	14814844	0.978000	0.34361	0.979000	0.43373	0.987000	0.75469	0.562000	0.23531	0.850000	0.35239	0.655000	0.94253	AGG	FREM1	-	NULL	ENSG00000164946		0.418	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	85	0.00	0	C	NM_144966		14824844	14824844	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	missense	61	22.78	18	SNP	1.000	A
HADH	3033	genome.wustl.edu	37	4	108948850	108948850	+	Missense_Mutation	SNP	C	C	T	rs140413151	byFrequency	TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr4:108948850C>T	ENST00000309522.3	+	6	792	c.643C>T	c.(643-645)Cct>Tct	p.P215S	HADH_ENST00000454409.2_Missense_Mutation_p.P219S|HADH_ENST00000603302.1_Missense_Mutation_p.P215S|HADH_ENST00000505878.1_Missense_Mutation_p.P219S|HADH_ENST00000510728.1_3'UTR|HADH_ENST00000403312.1_Missense_Mutation_p.P274S	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	543					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		ACAGGACACTCCTGGGTTTAT	0.453																																						dbGAP											0													93.0	89.0	91.0					4																	108948850		2203	4300	6503	-	-	-	SO:0001583	missense	0			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.643C>T	4.37:g.108948850C>T	ENSP00000312288:p.Pro215Ser		B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like	p.P215S	ENST00000309522.3	37	c.643	CCDS3678.1	4	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747721	0.89663	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	D;D;D	0.94862	-3.54;-3.54;-3.54	5.48	5.48	0.80851	3-hydroxyacyl-CoA dehydrogenase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97315	0.9122	M	0.91196	3.185	0.80722	D	1	D;D;D	0.64830	0.992;0.994;0.983	P;P;B	0.55455	0.776;0.581;0.441	D	0.98043	1.0383	10	0.87932	D	0	-15.886	19.021	0.92916	0.0:1.0:0.0:0.0	.	274;219;215	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	S	215;215;219;219	ENSP00000312288:P215S;ENSP00000425952:P219S;ENSP00000395167:P219S	ENSP00000312288:P215S	P	+	1	0	HADH	109168299	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	5.950000	0.70265	2.590000	0.87494	0.485000	0.47835	CCT	HADH	-	NULL	ENSG00000138796		0.453	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADH	HGNC	protein_coding	OTTHUMT00000254750.2	248	0.00	0	C	NM_005327		108948850	108948850	+1	no_errors	ENST00000403312	ensembl	human	known	69_37n	missense	618	14.97	109	SNP	1.000	T
HRG	3273	genome.wustl.edu	37	3	186383974	186383974	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr3:186383974C>T	ENST00000232003.4	+	1	234	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	52	Cystatin 1.|Interaction with ATP5A1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CCAATTGCTGCGGATTGCTGA	0.537																																						dbGAP											0													135.0	129.0	131.0					3																	186383974		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.154C>T	3.37:g.186383974C>T	ENSP00000232003:p.Arg52Trp		B9EK35|D3DNU7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.R52W	ENST00000232003.4	37	c.154	CCDS3280.1	3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039870	0.75732	.	.	ENSG00000113905	ENST00000232003	T	0.29142	1.58	5.49	4.61	0.57282	Proteinase inhibitor I25, cystatin (2);	0.148046	0.31636	N	0.007307	T	0.39145	0.1067	M	0.88775	2.98	0.34755	D	0.732156	P	0.37997	0.614	B	0.34346	0.18	T	0.61720	-0.7005	10	0.87932	D	0	-1.8652	10.9596	0.47376	0.0:0.9123:0.0:0.0877	.	52	P04196	HRG_HUMAN	W	52	ENSP00000232003:R52W	ENSP00000232003:R52W	R	+	1	2	HRG	187866668	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	1.089000	0.30890	1.456000	0.47831	0.650000	0.86243	CGG	HRG	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000113905		0.537	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRG	HGNC	protein_coding	OTTHUMT00000344655.1	86	0.00	0	C	NM_000412		186383974	186383974	+1	no_errors	ENST00000232003	ensembl	human	known	69_37n	missense	81	15.62	15	SNP	1.000	T
IKZF3	22806	genome.wustl.edu	37	17	37922577	37922577	+	Silent	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr17:37922577C>T	ENST00000346872.3	-	8	1057	c.996G>A	c.(994-996)tcG>tcA	p.S332S	IKZF3_ENST00000439167.2_Silent_p.S259S|IKZF3_ENST00000346243.3_Silent_p.S254S|IKZF3_ENST00000439016.2_Silent_p.S237S|IKZF3_ENST00000377944.3_Silent_p.S189S|IKZF3_ENST00000467757.1_Silent_p.S276S|IKZF3_ENST00000535189.1_Silent_p.S298S|IKZF3_ENST00000351680.3_Silent_p.S293S|IKZF3_ENST00000394189.2_Silent_p.S150S|IKZF3_ENST00000350532.3_Silent_p.S293S|IKZF3_ENST00000377958.2_Silent_p.S245S|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000377952.2_Silent_p.S111S|IKZF3_ENST00000377945.3_Silent_p.S198S|IKZF3_ENST00000583368.1_Silent_p.S85S	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	332					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAACCATCTCCGAGGTGGGAG	0.572																																						dbGAP											0													91.0	83.0	86.0					17																	37922577		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.996G>A	17.37:g.37922577C>T			B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S332	ENST00000346872.3	37	c.996	CCDS11346.1	17	.	.	.	.	.	.	.	.	.	.	C	7.989	0.752773	0.15778	.	.	ENSG00000161405	ENST00000439167;ENST00000439016	.	.	.	5.91	-11.8	0.00035	.	.	.	.	.	T	0.39655	0.1086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48234	-0.9053	4	.	.	.	-5.4125	4.8101	0.13339	0.3453:0.3803:0.1907:0.0838	.	.	.	.	Q	247;286	.	.	R	-	2	0	IKZF3	35176103	0.000000	0.05858	0.438000	0.26821	0.991000	0.79684	-3.948000	0.00328	-2.422000	0.00563	-0.147000	0.13772	CGG	IKZF3	-	NULL	ENSG00000161405		0.572	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF3	HGNC	protein_coding	OTTHUMT00000257004.2	46	0.00	0	C	NM_012481		37922577	37922577	-1	no_errors	ENST00000346872	ensembl	human	known	69_37n	silent	56	21.92	16	SNP	0.002	T
IL1R2	7850	genome.wustl.edu	37	2	102644698	102644698	+	Silent	SNP	G	G	A	rs2241081	byFrequency	TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr2:102644698G>A	ENST00000332549.3	+	9	1270	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	IL1R2_ENST00000393414.2_Silent_p.T347T|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	347	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CCTCCTCCACGTTCTCCTGGG	0.512													G|||	25	0.00499201	0.0	0.0	5008	,	,		20726	0.0248		0.0	False		,,,				2504	0.0				Pancreas(106;189 1628 2302 5133 12295)	dbGAP											0													106.0	98.0	101.0					2																	102644698		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.1041G>A	2.37:g.102644698G>A			D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II	p.T347	ENST00000332549.3	37	c.1041	CCDS2054.1	2																																																																																			IL1R2	-	pfscan_Ig-like,prints_Interleukin-1_rcpt_II	ENSG00000115590		0.512	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R2	HGNC	protein_coding	OTTHUMT00000253191.1	83	0.00	0	G	NM_004633		102644698	102644698	+1	no_errors	ENST00000332549	ensembl	human	known	69_37n	silent	95	20.83	25	SNP	0.485	A
ITPR2	3709	genome.wustl.edu	37	12	26647218	26647218	+	Silent	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr12:26647218C>T	ENST00000381340.3	-	39	5654	c.5238G>A	c.(5236-5238)caG>caA	p.Q1746Q		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1746					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CCAGCAGACACTGAATGTCTG	0.358																																						dbGAP											0													99.0	84.0	89.0					12																	26647218		1852	4112	5964	-	-	-	SO:0001819	synonymous_variant	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5238G>A	12.37:g.26647218C>T			O94773	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.Q1746	ENST00000381340.3	37	c.5238	CCDS41764.1	12																																																																																			ITPR2	-	superfamily_ARM-type_fold	ENSG00000123104		0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	249	0.00	0	C	NM_002223		26647218	26647218	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	silent	460	13.37	71	SNP	1.000	T
KCNJ3	3760	genome.wustl.edu	37	2	155555500	155555500	+	Silent	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr2:155555500C>T	ENST00000295101.2	+	1	690	c.213C>T	c.(211-213)ctC>ctT	p.L71L	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Silent_p.L71L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	71					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCTCGGACCTCTTCACCACGC	0.592																																						dbGAP											0													118.0	114.0	115.0					2																	155555500		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.213C>T	2.37:g.155555500C>T			B4DEW7|Q8TBI0	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir_Cr2	p.L71	ENST00000295101.2	37	c.213	CCDS2200.1	2																																																																																			KCNJ3	-	pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir	ENSG00000162989		0.592	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ3	HGNC	protein_coding	OTTHUMT00000254890.2	22	0.00	0	C	NM_002239		155555500	155555500	+1	no_errors	ENST00000295101	ensembl	human	known	69_37n	silent	26	36.59	15	SNP	1.000	T
KCNK18	338567	genome.wustl.edu	37	10	118969045	118969045	+	Missense_Mutation	SNP	G	G	C	rs374725776		TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr10:118969045G>C	ENST00000334549.1	+	3	390	c.390G>C	c.(388-390)aaG>aaC	p.K130N		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	130					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GGCTTGGCAAGTACTTGTGCA	0.493																																						dbGAP											0													213.0	211.0	212.0					10																	118969045		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.390G>C	10.37:g.118969045G>C	ENSP00000334650:p.Lys130Asn		Q5SQQ8	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.K130N	ENST00000334549.1	37	c.390	CCDS7598.1	10	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526564	0.64860	.	.	ENSG00000186795	ENST00000334549	T	0.38077	1.16	4.65	1.08	0.20341	Ion transport 2 (1);	0.050924	0.85682	D	0.000000	T	0.56906	0.2017	M	0.86268	2.805	0.46336	D	0.998992	D	0.76494	0.999	D	0.67900	0.954	T	0.60156	-0.7318	10	0.87932	D	0	.	8.968	0.35887	0.4266:0.0:0.5733:0.0	.	130	Q7Z418	KCNKI_HUMAN	N	130	ENSP00000334650:K130N	ENSP00000334650:K130N	K	+	3	2	KCNK18	118959035	0.952000	0.32445	0.974000	0.42286	0.991000	0.79684	0.690000	0.25451	0.447000	0.26695	0.655000	0.94253	AAG	KCNK18	-	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	ENSG00000186795		0.493	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK18	HGNC	protein_coding	OTTHUMT00000050562.2	161	0.00	0	G	NM_181840		118969045	118969045	+1	no_errors	ENST00000334549	ensembl	human	known	69_37n	missense	113	33.92	58	SNP	0.738	C
KSR1	8844	genome.wustl.edu	37	17	25910015	25910016	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr17:25910015_25910016insC	ENST00000319524.6	+	4	864_865	c.864_865insC	c.(865-867)cccfs	p.P289fs	KSR1_ENST00000398988.3_Frame_Shift_Ins_p.P152fs|KSR1_ENST00000509603.2_Frame_Shift_Ins_p.P289fs|KSR1_ENST00000268763.6_Frame_Shift_Ins_p.P152fs			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	289	Poly-Pro.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P292fs*22(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CACCACGGACGCCCCCCCCACC	0.678																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	dbGAP											2	Insertion - Frameshift(2)	large_intestine(2)																																								-	-	-	SO:0001589	frameshift_variant	0			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.872dupC	17.37:g.25910023_25910023dupC	ENSP00000323178:p.Pro289fs		F8WEA9|H7BYU0|Q13476	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P291fs	ENST00000319524.6	37	c.864_865		17																																																																																			KSR1	-	NULL	ENSG00000141068		0.678	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		9	0.00	0	-	NM_014238		25910015	25910016	+1	no_errors	ENST00000319524	ensembl	human	known	69_37n	frame_shift_ins	8	27.27	3	INS	0.261:0.999	C
KSR2	283455	genome.wustl.edu	37	12	117922315	117922315	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr12:117922315C>T	ENST00000339824.5	-	16	3083	c.2356G>A	c.(2356-2358)Gac>Aac	p.D786N	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.D757N			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	786	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACTTGAGGTCCTTGTGTAGG	0.527																																						dbGAP											0													100.0	103.0	102.0					12																	117922315		2022	4180	6202	-	-	-	SO:0001583	missense	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2356G>A	12.37:g.117922315C>T	ENSP00000339952:p.Asp786Asn		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.D786N	ENST00000339824.5	37	c.2356		12	.	.	.	.	.	.	.	.	.	.	C	32	5.110862	0.94292	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.96232	-3.95;-3.95	5.55	4.67	0.58626	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050268	0.85682	D	0.000000	D	0.98157	0.9391	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98948	1.0793	10	0.87932	D	0	.	14.2423	0.65966	0.0:0.9285:0.0:0.0715	.	786	Q6VAB6	KSR2_HUMAN	N	757;786	ENSP00000389715:D757N;ENSP00000339952:D786N	ENSP00000339952:D786N	D	-	1	0	KSR2	116406698	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.794000	0.85869	1.352000	0.45808	0.655000	0.94253	GAC	KSR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000171435		0.527	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	74	0.00	0	C	NM_173598		117922315	117922315	-1	no_errors	ENST00000339824	ensembl	human	known	69_37n	missense	33	58.23	46	SNP	1.000	T
LARP1	23367	genome.wustl.edu	37	5	154169889	154169890	+	Frame_Shift_Del	DEL	CT	CT	-	rs566672013		TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr5:154169889_154169890delCT	ENST00000336314.4	+	2	234_235	c.210_211delCT	c.(208-213)cactctfs	p.S71fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	148					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCACAGAACACTCTGCTCCAGC	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.210_211delCT	5.37:g.154169891_154169892delCT	ENSP00000336721:p.Ser71fs		O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.S71fs	ENST00000336314.4	37	c.210_211	CCDS4328.1	5																																																																																			LARP1	-	NULL	ENSG00000155506		0.550	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	41	0.00	0	CT	NM_033551		154169889	154169890	+1	no_errors	ENST00000336314	ensembl	human	known	69_37n	frame_shift_del	56	13.85	9	DEL	0.980:0.979	-
LRRC73	221424	genome.wustl.edu	37	6	43476519	43476519	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr6:43476519G>A	ENST00000372441.1	-	2	1312	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	138																	CCATCTGGGGGCAGGAGGCCA	0.622																																						dbGAP											0													74.0	79.0	77.0					6																	43476519		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.412C>T	6.37:g.43476519G>A	ENSP00000361518:p.Pro138Ser			Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P138S	ENST00000372441.1	37	c.412	CCDS34456.1	6	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202682	0.38905	.	.	ENSG00000204052	ENST00000372441	T	0.49720	0.77	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	N	0.21194	0.64	0.80722	D	1	B	0.26081	0.141	B	0.24269	0.052	T	0.05484	-1.0882	10	0.09843	T	0.71	-15.7806	15.7542	0.78011	0.0:0.0:1.0:0.0	.	138	Q5JTD7	CF154_HUMAN	S	138	ENSP00000361518:P138S	ENSP00000361518:P138S	P	-	1	0	C6orf154	43584497	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.834000	0.92094	2.431000	0.82371	0.655000	0.94253	CCC	LRRC73	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000204052		0.622	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC73	HGNC	protein_coding	OTTHUMT00000040635.1	8	0.00	0	G	NM_001012974		43476519	43476519	-1	no_errors	ENST00000372441	ensembl	human	novel	69_37n	missense	12	40.00	8	SNP	1.000	A
LTBP2	4053	genome.wustl.edu	37	14	74967606	74967607	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr14:74967606_74967607insG	ENST00000261978.4	-	36	5832_5833	c.5446_5447insC	c.(5446-5448)cacfs	p.H1816fs	LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.H1772fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1816	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.H1816fs*>7(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCAGTGCAGTGGGGGGGCCCT	0.619																																						dbGAP											2	Insertion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5447dupC	14.37:g.74967613_74967613dupG	ENSP00000261978:p.His1816fs		Q99907|Q9NS51	Frame_Shift_Ins	INS	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.H1816fs	ENST00000261978.4	37	c.5447_5446	CCDS9831.1	14																																																																																			LTBP2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000119681		0.619	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	30	0.00	0	-	NM_000428		74967606	74967607	-1	no_errors	ENST00000261978	ensembl	human	known	69_37n	frame_shift_ins	25	13.79	4	INS	0.813:0.817	G
MCM3AP	8888	genome.wustl.edu	37	21	47703566	47703566	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr21:47703566C>T	ENST00000397708.1	-	3	1660	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397691.1_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R469H|YBEY_ENST00000397692.1_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	469	DNA primase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTTTTTGCTGCGCCTGGTAAA	0.443																																						dbGAP											0													90.0	87.0	88.0					21																	47703566		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1406G>A	21.37:g.47703566C>T	ENSP00000380820:p.Arg469His		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R469H	ENST00000397708.1	37	c.1406	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736291	0.69189	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03860	3.78;3.78	4.97	4.97	0.65823	Nucleotide-binding, alpha-beta plait (1);	0.056262	0.64402	D	0.000002	T	0.16514	0.0397	L	0.60455	1.87	0.41185	D	0.986265	D	0.76494	0.999	D	0.70016	0.967	T	0.00446	-1.1734	10	0.44086	T	0.13	-17.7079	13.9219	0.63937	0.0:0.8477:0.1523:0.0	.	469	O60318	MCM3A_HUMAN	H	469	ENSP00000380820:R469H;ENSP00000291688:R469H	ENSP00000291688:R469H	R	-	2	0	MCM3AP	46527994	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.751000	0.68720	2.284000	0.76573	0.563000	0.77884	CGC	MCM3AP	-	NULL	ENSG00000160294		0.443	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	27	0.00	0	C	NM_003906		47703566	47703566	-1	no_errors	ENST00000291688	ensembl	human	known	69_37n	missense	37	30.19	16	SNP	1.000	T
MCMBP	79892	genome.wustl.edu	37	10	121602080	121602080	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr10:121602080G>C	ENST00000360003.3	-	10	1203	c.1034C>G	c.(1033-1035)tCt>tGt	p.S345C	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.S343C	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	345					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TCTGACTGGAGACAATTCGGA	0.428																																						dbGAP											0													123.0	111.0	115.0					10																	121602080		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1034C>G	10.37:g.121602080G>C	ENSP00000353098:p.Ser345Cys		B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	pfam_MCM_complex-bd	p.S345C	ENST00000360003.3	37	c.1034	CCDS7617.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.171744	0.94807	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	T;T	0.33865	1.39;1.39	5.83	5.83	0.93111	.	0.238154	0.44285	D	0.000462	T	0.49270	0.1547	L	0.48642	1.525	0.58432	D	0.999996	D	0.65815	0.995	P	0.54270	0.747	T	0.38693	-0.9649	10	0.52906	T	0.07	-23.3096	20.1141	0.97919	0.0:0.0:1.0:0.0	.	345	Q9BTE3	MCMBP_HUMAN	C	345;343	ENSP00000353098:S345C;ENSP00000358073:S343C	ENSP00000353098:S345C	S	-	2	0	MCMBP	121592070	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.449000	0.80643	2.757000	0.94681	0.591000	0.81541	TCT	MCMBP	-	pfam_MCM_complex-bd	ENSG00000197771		0.428	MCMBP-002	KNOWN	basic|CCDS	protein_coding	MCMBP	HGNC	protein_coding	OTTHUMT00000050684.1	226	0.00	0	G	NM_024834		121602080	121602080	-1	no_errors	ENST00000360003	ensembl	human	known	69_37n	missense	159	29.96	68	SNP	1.000	C
MUC16	94025	genome.wustl.edu	37	19	9061493	9061493	+	Silent	SNP	C	C	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr19:9061493C>A	ENST00000397910.4	-	3	26156	c.25953G>T	c.(25951-25953)ggG>ggT	p.G8651G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8653	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAATCACAGTCCCTACATTGA	0.438																																						dbGAP											0													143.0	131.0	135.0					19																	9061493		1898	4128	6026	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25953G>T	19.37:g.9061493C>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.G8651	ENST00000397910.4	37	c.25953	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	298	0.00	0	C	NM_024690		9061493	9061493	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	317	20.55	82	SNP	0.000	A
MYRIP	25924	genome.wustl.edu	37	3	40231954	40231954	+	Splice_Site	SNP	G	G	C			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr3:40231954G>C	ENST00000302541.6	+	10	2007	c.1665G>C	c.(1663-1665)caG>caC	p.Q555H	MYRIP_ENST00000539167.1_Splice_Site_p.Q368H|MYRIP_ENST00000396217.3_Splice_Site_p.Q466H|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Splice_Site_p.Q555H|MYRIP_ENST00000444716.1_Splice_Site_p.Q555H	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	555	Actin-binding.|Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACACACATCAGGTAATGGAAG	0.562																																						dbGAP											0													32.0	32.0	32.0					3																	40231954		2200	4291	6491	-	-	-	SO:0001630	splice_region_variant	0			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1665+1G>C	3.37:g.40231954G>C			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	pfam_Myelin-assoc_OBP,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.Q555H	ENST00000302541.6	37	c.1665	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222968	0.39300	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.5	3.7	0.42460	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.515786	0.19076	N	0.123361	T	0.41096	0.1144	L	0.55481	1.735	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.78314	0.942;0.989;0.991	T	0.08597	-1.0714	9	.	.	.	.	7.7628	0.28961	0.0875:0.1631:0.7494:0.0	.	466;555;555	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	H	555;555;555;466;368	ENSP00000398665:Q555H;ENSP00000301972:Q555H;ENSP00000389323:Q555H;ENSP00000379519:Q466H;ENSP00000438297:Q368H	.	Q	+	3	2	MYRIP	40206958	1.000000	0.71417	0.942000	0.38095	0.038000	0.13279	4.337000	0.59310	0.683000	0.31428	0.655000	0.94253	CAG	MYRIP	-	pfam_Myelin-assoc_OBP	ENSG00000170011		0.562	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	101	0.00	0	G	NM_015460	Missense_Mutation	40231954	40231954	+1	no_errors	ENST00000302541	ensembl	human	known	69_37n	missense	60	25.00	20	SNP	1.000	C
NEK6	10783	genome.wustl.edu	37	9	127083782	127083782	+	Silent	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr9:127083782C>T	ENST00000320246.5	+	5	484	c.339C>T	c.(337-339)atC>atT	p.I113I	NEK6_ENST00000373603.1_Silent_p.I113I|NEK6_ENST00000545174.1_Silent_p.I113I|NEK6_ENST00000373600.3_Silent_p.I147I|NEK6_ENST00000546191.1_Silent_p.I113I|NEK6_ENST00000394199.2_Silent_p.I147I|NEK6_ENST00000539416.1_Silent_p.I138I|NEK6_ENST00000540326.1_Silent_p.I131I	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						ACTCGTTTATCGAAGACAACG	0.567																																					NSCLC(122;934 1785 18647 44295 45571)	dbGAP											0													104.0	86.0	92.0					9																	127083782		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.339C>T	9.37:g.127083782C>T			B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I147	ENST00000320246.5	37	c.441	CCDS6854.1	9																																																																																			NEK6	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000119408		0.567	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	HGNC	protein_coding	OTTHUMT00000054016.1	43	0.00	0	C	NM_014397		127083782	127083782	+1	no_errors	ENST00000373600	ensembl	human	known	69_37n	silent	32	21.95	9	SNP	0.906	T
NFYC	4802	genome.wustl.edu	37	1	41236181	41236182	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr1:41236181_41236182insC	ENST00000308733.5	+	10	1064_1065	c.1058_1059insC	c.(1057-1062)caccccfs	p.HP353fs	NFYC_ENST00000440226.3_Intron|NFYC_ENST00000447388.3_Intron|NFYC_ENST00000456393.2_Intron|NFYC_ENST00000425457.2_Intron|NFYC_ENST00000372652.1_Frame_Shift_Ins_p.HP334fs|NFYC_ENST00000427410.2_Intron|NFYC_ENST00000372651.1_Intron|NFYC_ENST00000372654.1_Intron|NFYC_ENST00000372653.1_Intron			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	353					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CCCACCACACACCCCCCCTCAC	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.1065dupC	1.37:g.41236188_41236188dupC	ENSP00000312617:p.His353fs		B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Frame_Shift_Ins	INS	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	p.S356fs	ENST00000308733.5	37	c.1058_1059		1																																																																																			NFYC	-	NULL	ENSG00000066136		0.619	NFYC-007	KNOWN	basic	protein_coding	NFYC	HGNC	protein_coding	OTTHUMT00000020802.1	31	0.00	0	-	NM_014223		41236181	41236182	+1	no_errors	ENST00000308733	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	0.002:0.000	C
OR5D16	390144	genome.wustl.edu	37	11	55607024	55607024	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr11:55607024C>T	ENST00000378396.1	+	1	797	c.797C>T	c.(796-798)tCc>tTc	p.S266F		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GTACCCAACTCCAAAAACTCC	0.512																																						dbGAP											0													101.0	92.0	95.0					11																	55607024		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.797C>T	11.37:g.55607024C>T	ENSP00000367649:p.Ser266Phe		Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S266F	ENST00000378396.1	37	c.797	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	9.517	1.107177	0.20714	.	.	ENSG00000205029	ENST00000378396	T	0.00267	8.38	4.43	-1.26	0.09376	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	M	0.91561	3.22	0.09310	N	1	P	0.40794	0.729	P	0.56474	0.799	T	0.24440	-1.0160	9	0.87932	D	0	-26.6245	5.6968	0.17861	0.0:0.3344:0.4099:0.2557	.	266	Q8NGK9	OR5DG_HUMAN	F	266	ENSP00000367649:S266F	ENSP00000367649:S266F	S	+	2	0	OR5D16	55363600	0.000000	0.05858	0.000000	0.03702	0.407000	0.30961	-0.064000	0.11636	-0.464000	0.06963	-0.266000	0.10368	TCC	OR5D16	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205029		0.512	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	353	0.00	0	C	NM_001005496		55607024	55607024	+1	no_errors	ENST00000378396	ensembl	human	known	69_37n	missense	450	12.45	64	SNP	0.000	T
OR5H2	79310	genome.wustl.edu	37	3	98002278	98002278	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr3:98002278T>G	ENST00000355273.2	+	1	547	c.547T>G	c.(547-549)Tac>Gac	p.Y183D	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						ACATCATTTTTACTGTGATAT	0.328																																						dbGAP											0													91.0	90.0	90.0					3																	98002278		2202	4297	6499	-	-	-	SO:0001583	missense	0				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.547T>G	3.37:g.98002278T>G	ENSP00000347418:p.Tyr183Asp		Q6IF87	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y183D	ENST00000355273.2	37	c.547	CCDS33801.1	3	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554952	0.45487	.	.	ENSG00000197938	ENST00000355273	T	0.00130	8.69	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.224693	0.22816	U	0.055284	T	0.00524	0.0017	M	0.89968	3.075	0.29350	N	0.865383	D	0.89917	1.0	D	0.83275	0.996	T	0.08027	-1.0742	10	0.87932	D	0	.	9.4315	0.38612	0.0:0.0:0.0:1.0	.	183	Q8NGV7	OR5H2_HUMAN	D	183	ENSP00000347418:Y183D	ENSP00000347418:Y183D	Y	+	1	0	OR5H2	99484968	0.294000	0.24380	0.451000	0.26982	0.058000	0.15608	3.302000	0.51849	1.387000	0.46486	0.338000	0.21704	TAC	OR5H2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000197938		0.328	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H2	HGNC	protein_coding	OTTHUMT00000359113.2	226	0.00	0	T			98002278	98002278	+1	no_errors	ENST00000355273	ensembl	human	known	69_37n	missense	145	50.00	145	SNP	0.851	G
PAPPA	5069	genome.wustl.edu	37	9	119144714	119144714	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr9:119144714G>A	ENST00000328252.3	+	21	5087	c.4718G>A	c.(4717-4719)cGa>cAa	p.R1573Q	PAPPA_ENST00000483254.1_3'UTR|PAPPA_ENST00000534838.1_Missense_Mutation_p.R611Q	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1573					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATCAACAACCGAGCCTTTTGC	0.537																																						dbGAP											0													155.0	133.0	141.0					9																	119144714		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4718G>A	9.37:g.119144714G>A	ENSP00000330658:p.Arg1573Gln		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.R1573Q	ENST00000328252.3	37	c.4718	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.927308	0.97110	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	D;D	0.91407	-2.84;-2.84	6.07	6.07	0.98685	Notch domain (2);	0.000000	0.85682	D	0.000000	D	0.95354	0.8492	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.94834	0.7999	10	0.72032	D	0.01	-11.9666	20.6593	0.99626	0.0:0.0:1.0:0.0	.	611;1573	F5GZ19;Q13219	.;PAPP1_HUMAN	Q	1573;611	ENSP00000330658:R1573Q;ENSP00000441461:R611Q	ENSP00000330658:R1573Q	R	+	2	0	PAPPA	118184535	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.343000	0.97047	2.885000	0.99019	0.655000	0.94253	CGA	PAPPA	-	pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom	ENSG00000182752		0.537	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	208	0.00	0	G	NM_002581		119144714	119144714	+1	no_errors	ENST00000328252	ensembl	human	known	69_37n	missense	170	24.44	55	SNP	1.000	A
PDE4D	5144	genome.wustl.edu	37	5	58271593	58271593	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr5:58271593G>A	ENST00000340635.6	-	14	2079	c.1904C>T	c.(1903-1905)aCg>aTg	p.T635M	PDE4D_ENST00000503258.1_Missense_Mutation_p.T505M|PDE4D_ENST00000360047.5_Missense_Mutation_p.T499M|PDE4D_ENST00000546160.1_Missense_Mutation_p.T574M|PDE4D_ENST00000405755.2_Missense_Mutation_p.T513M|PDE4D_ENST00000507116.1_Missense_Mutation_p.T571M|PDE4D_ENST00000358923.6_Missense_Mutation_p.T333M|PDE4D_ENST00000502484.2_Missense_Mutation_p.T574M|PDE4D_ENST00000317118.8_Missense_Mutation_p.T344M	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	635					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.T499M(1)|p.T571M(1)|p.T635M(1)|p.T513M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TATCCGGTCCGTCCACTGGCG	0.507																																						dbGAP											4	Substitution - Missense(4)	large_intestine(4)											94.0	99.0	97.0					5																	58271593		2190	4296	6486	-	-	-	SO:0001583	missense	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1904C>T	5.37:g.58271593G>A	ENSP00000345502:p.Thr635Met		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.T635M	ENST00000340635.6	37	c.1904	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448142	0.84101	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	D;D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	4.4	4.4	0.53042	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.90424	0.7002	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;0.998;0.999	D	0.91733	0.5398	10	0.87932	D	0	.	17.5214	0.87787	0.0:0.0:1.0:0.0	.	574;635;571;498;513;505;410;344	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	M	635;504;499;571;333;344;505;513;574;574;333	ENSP00000345502:T635M;ENSP00000353152:T499M;ENSP00000424852:T571M;ENSP00000351800:T333M;ENSP00000321739:T344M;ENSP00000425605:T505M;ENSP00000384806:T513M;ENSP00000423094:T574M;ENSP00000442734:T574M;ENSP00000421013:T333M	ENSP00000321739:T344M	T	-	2	0	PDE4D	58307350	1.000000	0.71417	0.992000	0.48379	0.889000	0.51656	9.592000	0.98245	2.427000	0.82271	0.655000	0.94253	ACG	PDE4D	-	pfam_PDEase_catalytic_dom,prints_PDEase	ENSG00000113448		0.507	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	125	0.00	0	G			58271593	58271593	-1	no_errors	ENST00000340635	ensembl	human	known	69_37n	missense	179	18.64	41	SNP	1.000	A
PCDHB14	56122	genome.wustl.edu	37	5	140604653	140604653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr5:140604653G>T	ENST00000239449.4	+	1	1576	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.E373*	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCTACAGGAGTTCGAGTT	0.682																																					Ovarian(141;50 1831 27899 33809 37648)	dbGAP											0													78.0	84.0	82.0					5																	140604653		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1576G>T	5.37:g.140604653G>T	ENSP00000239449:p.Glu526*		B4DPE2|Q4FZA4|Q4KN11	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E526*	ENST00000239449.4	37	c.1576	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	18.25	3.581486	0.65992	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	.	.	.	4.15	3.25	0.37280	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	12.4477	0.55659	0.0892:0.0:0.9108:0.0	.	.	.	.	X	373;526	.	ENSP00000239449:E526X	E	+	1	0	PCDHB14	140584837	0.000000	0.05858	0.048000	0.18961	0.767000	0.43475	0.840000	0.27600	2.048000	0.60808	0.556000	0.70494	GAG	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120327		0.682	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	18	0.00	0	G	NM_018934		140604653	140604653	+1	no_errors	ENST00000239449	ensembl	human	known	69_37n	nonsense	29	38.30	18	SNP	0.000	T
PEAK1	79834	genome.wustl.edu	37	15	77425881	77425881	+	Silent	SNP	A	A	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr15:77425881A>G	ENST00000560626.2	-	6	4018	c.3543T>C	c.(3541-3543)tgT>tgC	p.C1181C	PEAK1_ENST00000312493.4_Silent_p.C1181C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1181					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TAGCCATGACACAAAGACTAC	0.478																																						dbGAP											0													116.0	114.0	115.0					15																	77425881		1905	4111	6016	-	-	-	SO:0001819	synonymous_variant	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3543T>C	15.37:g.77425881A>G			Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.C1181	ENST00000560626.2	37	c.3543	CCDS42062.1	15																																																																																			PEAK1	-	NULL	ENSG00000173517		0.478	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Clone_based_vega_gene	protein_coding	OTTHUMT00000419483.3	220	0.45	1	A			77425881	77425881	-1	no_errors	ENST00000312493	ensembl	human	known	69_37n	silent	165	25.34	56	SNP	0.929	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	196	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	237	33.43	119	SNP	1.000	G
PLEKHH2	130271	genome.wustl.edu	37	2	43919673	43919673	+	Silent	SNP	A	A	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr2:43919673A>G	ENST00000282406.4	+	4	317	c.207A>G	c.(205-207)aaA>aaG	p.K69K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	69					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGAAGATAAATTAAAAGCAG	0.299																																						dbGAP											0													54.0	61.0	59.0					2																	43919673		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.207A>G	2.37:g.43919673A>G			Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.K69	ENST00000282406.4	37	c.207	CCDS1812.1	2																																																																																			PLEKHH2	-	NULL	ENSG00000152527		0.299	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	89	0.00	0	A	NM_172069		43919673	43919673	+1	no_errors	ENST00000282406	ensembl	human	known	69_37n	silent	94	28.79	38	SNP	1.000	G
PMS1	5378	genome.wustl.edu	37	2	190742124	190742124	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr2:190742124T>G	ENST00000441310.2	+	13	2994	c.2761T>G	c.(2761-2763)Ttt>Gtt	p.F921V	PMS1_ENST00000447232.2_Missense_Mutation_p.F759V|PMS1_ENST00000432292.3_Missense_Mutation_p.F745V|PMS1_ENST00000409823.3_Missense_Mutation_p.F882V|PMS1_ENST00000418224.3_Missense_Mutation_p.F745V	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	921					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGGTCGCCCATTTTTTCATCA	0.328			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														dbGAP	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0													109.0	107.0	108.0					2																	190742124		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2761T>G	2.37:g.190742124T>G	ENSP00000406490:p.Phe921Val		D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N	p.F921V	ENST00000441310.2	37	c.2761	CCDS2302.1	2	.	.	.	.	.	.	.	.	.	.	T	19.62	3.862469	0.71949	.	.	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593	D;D;D;D;D;D	0.96427	-2.36;-2.12;-2.55;-2.83;-2.12;-4.01	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.96549	0.8874	M	0.72894	2.215	0.54753	D	0.999981	P;D;D;D;D	0.63046	0.666;0.992;0.985;0.983;0.973	B;D;P;P;P	0.63033	0.112;0.91;0.729;0.727;0.729	D	0.94799	0.7969	10	0.02654	T	1	-23.127	11.4243	0.50001	0.0:0.0701:0.0:0.9299	.	237;544;882;759;921	Q5FBZ4;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;PMS1_HUMAN	V	921;745;882;759;745;544	ENSP00000406490:F921V;ENSP00000404492:F745V;ENSP00000387125:F882V;ENSP00000401064:F759V;ENSP00000398378:F745V;ENSP00000387169:F544V	ENSP00000387169:F544V	F	+	1	0	PMS1	190450369	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.372000	0.52387	2.324000	0.78689	0.533000	0.62120	TTT	PMS1	-	NULL	ENSG00000064933		0.328	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	HGNC	protein_coding	OTTHUMT00000255918.2	143	0.00	0	T			190742124	190742124	+1	no_errors	ENST00000441310	ensembl	human	known	69_37n	missense	242	14.49	41	SNP	1.000	G
PPP1R3A	5506	genome.wustl.edu	37	7	113519206	113519206	+	Silent	SNP	A	A	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr7:113519206A>G	ENST00000284601.3	-	4	2009	c.1941T>C	c.(1939-1941)gaT>gaC	p.D647D		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	647					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTGGGCTATTATCCTGATCTT	0.358																																						dbGAP											0													102.0	100.0	100.0					7																	113519206		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1941T>C	7.37:g.113519206A>G			A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	pfam_CBM_21,pfscan_CBM_21	p.D647	ENST00000284601.3	37	c.1941	CCDS5759.1	7																																																																																			PPP1R3A	-	NULL	ENSG00000154415		0.358	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	625	0.16	1	A	NM_002711		113519206	113519206	-1	no_errors	ENST00000284601	ensembl	human	known	69_37n	silent	421	32.10	199	SNP	0.000	G
PROCR	10544	genome.wustl.edu	37	20	33764038	33764038	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr20:33764038C>A	ENST00000216968.4	+	3	472	c.390C>A	c.(388-390)ttC>ttA	p.F130L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	130					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CCCATGTCTTCTTCGAAGTGG	0.597																																						dbGAP											0													80.0	80.0	80.0					20																	33764038		2203	4300	6503	-	-	-	SO:0001583	missense	0			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.390C>A	20.37:g.33764038C>A	ENSP00000216968:p.Phe130Leu		B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.F130L	ENST00000216968.4	37	c.390	CCDS13248.1	20	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502557	0.85176	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.85171	-1.95	5.51	4.57	0.56435	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.080854	0.53938	D	0.000046	D	0.89846	0.6833	M	0.81802	2.56	0.44424	D	0.997348	D	0.63046	0.992	P	0.57324	0.818	D	0.90319	0.4343	10	0.72032	D	0.01	-2.8985	10.2936	0.43610	0.0:0.9093:0.0:0.0907	.	130	Q9UNN8	EPCR_HUMAN	L	130	ENSP00000216968:F130L	ENSP00000216968:F130L	F	+	3	2	PROCR	33227699	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	3.834000	0.55798	1.335000	0.45486	0.561000	0.74099	TTC	PROCR	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000101000		0.597	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROCR	HGNC	protein_coding	OTTHUMT00000078843.3	38	0.00	0	C			33764038	33764038	+1	no_errors	ENST00000216968	ensembl	human	known	69_37n	missense	97	15.65	18	SNP	1.000	A
PRTG	283659	genome.wustl.edu	37	15	55970187	55970187	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr15:55970187C>A	ENST00000389286.4	-	8	1236	c.1189G>T	c.(1189-1191)Gct>Tct	p.A397S	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTATTCTCAGCCATGCACTGA	0.358																																						dbGAP											0													48.0	44.0	45.0					15																	55970187		1835	4082	5917	-	-	-	SO:0001583	missense	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1189G>T	15.37:g.55970187C>A	ENSP00000373937:p.Ala397Ser			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A397S	ENST00000389286.4	37	c.1189	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584524	0.86748	.	.	ENSG00000166450	ENST00000389286	T	0.76578	-1.03	4.85	4.85	0.62838	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91405	0.7288	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93866	0.7158	10	0.87932	D	0	-18.3314	17.3567	0.87338	0.0:1.0:0.0:0.0	.	397	Q2VWP7	PRTG_HUMAN	S	397	ENSP00000373937:A397S	ENSP00000373937:A397S	A	-	1	0	PRTG	53757479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.718000	0.84743	2.395000	0.81488	0.555000	0.69702	GCT	PRTG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000166450		0.358	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	88	0.00	0	C	NM_173814		55970187	55970187	-1	no_errors	ENST00000389286	ensembl	human	known	69_37n	missense	62	21.52	17	SNP	1.000	A
PTPRE	5791	genome.wustl.edu	37	10	129866449	129866449	+	Silent	SNP	C	C	T	rs7100666	byFrequency	TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr10:129866449C>T	ENST00000254667.3	+	12	1185	c.906C>T	c.(904-906)ccC>ccT	p.P302P	PTPRE_ENST00000306042.5_Silent_p.P244P|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000419012.2_Silent_p.P302P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	302	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CCAGCTGGCCCGACTTCGGAG	0.607																																					Colon(52;977 1184 20575 41685)	dbGAP											0													56.0	54.0	55.0					10																	129866449		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.906C>T	10.37:g.129866449C>T			Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.P302	ENST00000254667.3	37	c.906	CCDS7657.1	10																																																																																			PTPRE	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132334		0.607	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRE	HGNC	protein_coding	OTTHUMT00000050990.1	56	0.00	0	C			129866449	129866449	+1	no_errors	ENST00000254667	ensembl	human	known	69_37n	silent	24	37.50	15	SNP	0.710	T
PXDNL	137902	genome.wustl.edu	37	8	52370199	52370199	+	Nonsense_Mutation	SNP	G	G	A	rs570393765		TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr8:52370199G>A	ENST00000356297.4	-	9	941	c.841C>T	c.(841-843)Cga>Tga	p.R281*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.R281*	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	281	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACATTAAGTCGAGTATCATCT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		16770	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													187.0	181.0	183.0					8																	52370199		1937	4137	6074	-	-	-	SO:0001587	stop_gained	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.841C>T	8.37:g.52370199G>A	ENSP00000348645:p.Arg281*		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.R281*	ENST00000356297.4	37	c.841	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.266990	0.95399	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	.	.	.	3.28	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8987	0.18953	0.2675:0.0:0.7325:0.0	.	.	.	.	X	281	.	ENSP00000348645:R281X	R	-	1	2	PXDNL	52532752	0.929000	0.31497	0.004000	0.12327	0.764000	0.43329	2.134000	0.42102	0.061000	0.16311	0.555000	0.69702	CGA	PXDNL	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000147485		0.398	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	419	0.00	0	G	NM_144651		52370199	52370199	-1	no_errors	ENST00000356297	ensembl	human	known	69_37n	nonsense	751	14.76	130	SNP	0.679	A
RAD54B	25788	genome.wustl.edu	37	8	95423537	95423537	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr8:95423537G>A	ENST00000336148.5	-	4	435	c.311C>T	c.(310-312)tCg>tTg	p.S104L		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	104					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTAGGAGCCGAATGAACTAC	0.308								Direct reversal of damage;Homologous recombination																														dbGAP											0													55.0	55.0	55.0					8																	95423537		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.311C>T	8.37:g.95423537G>A	ENSP00000336606:p.Ser104Leu		F6WBS8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S104L	ENST00000336148.5	37	c.311	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	G	8.133	0.783485	0.16189	.	.	ENSG00000197275	ENST00000336148;ENST00000523839	D;T	0.88818	-2.43;1.41	5.32	-2.05	0.07321	.	1.763510	0.02925	N	0.138429	T	0.80984	0.4729	L	0.29908	0.895	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.63849	-0.6544	10	0.22706	T	0.39	-24.7176	6.3534	0.21389	0.5523:0.0:0.3258:0.122	.	104	Q9Y620	RA54B_HUMAN	L	104	ENSP00000336606:S104L;ENSP00000428554:S104L	ENSP00000336606:S104L	S	-	2	0	RAD54B	95492713	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.082000	0.14847	-0.221000	0.09973	-1.641000	0.00772	TCG	RAD54B	-	NULL	ENSG00000197275		0.308	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	167	0.00	0	G	NM_012415		95423537	95423537	-1	no_errors	ENST00000336148	ensembl	human	known	69_37n	missense	576	20.85	152	SNP	0.000	A
RELN	5649	genome.wustl.edu	37	7	103141338	103141338	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr7:103141338A>C	ENST00000428762.1	-	53	8680	c.8521T>G	c.(8521-8523)Tca>Gca	p.S2841A	RELN_ENST00000343529.5_Missense_Mutation_p.S2841A|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.S2841A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2841					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGCATGTCTGAGTACTTCTGA	0.443																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													163.0	159.0	161.0					7																	103141338		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8521T>G	7.37:g.103141338A>C	ENSP00000392423:p.Ser2841Ala		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom	p.S2841A	ENST00000428762.1	37	c.8521	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319256	0.81469	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.26957	1.7;1.7;1.7	5.17	5.17	0.71159	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	L	0.52759	1.655	0.52501	D	0.999957	P;B	0.35307	0.494;0.131	B;B	0.43251	0.413;0.082	T	0.15925	-1.0420	10	0.72032	D	0.01	.	15.0284	0.71687	1.0:0.0:0.0:0.0	.	2841;2841	P78509-2;P78509	.;RELN_HUMAN	A	2841;2841;2841;358;2841	ENSP00000392423:S2841A;ENSP00000345694:S2841A;ENSP00000388446:S2841A	ENSP00000345694:S2841A	S	-	1	0	RELN	102928574	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.962000	0.93254	1.934000	0.56057	0.533000	0.62120	TCA	RELN	-	superfamily_Neuraminidase	ENSG00000189056		0.443	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	294	0.00	0	A	NM_005045		103141338	103141338	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	missense	192	28.36	76	SNP	1.000	C
RFPL1	5988	genome.wustl.edu	37	22	29835545	29835546	+	Intron	INS	-	-	G	rs556583451	byFrequency	TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr22:29835545_29835546insG	ENST00000354373.2	+	1	582				RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1								zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						ggcgttaacctggggggggcgg	0.52													|||unknown(ALL_OTHER_Ns)	33	0.00658946	0.0091	0.0029	5008	,	,		17874	0.0		0.0129	False		,,,				2504	0.0061					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.373+392->G	22.37:g.29835553_29835553dupG			Q6IC06|Q9UJ97	RNA	INS	-	NULL	ENST00000354373.2	37	NULL	CCDS13857.2	22																																																																																			RFPL1-AS1	-	-	ENSG00000225465		0.520	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFPL1-AS1	HGNC	protein_coding	OTTHUMT00000318719.1	16	0.00	0	-	NM_021026		29835545	29835546	-1	no_errors	ENST00000461286	ensembl	human	known	69_37n	rna	15	16.67	3	INS	0.002:0.002	G
RFX4	5992	genome.wustl.edu	37	12	107048049	107048049	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr12:107048049C>T	ENST00000392842.1	+	4	649	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.R88C	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	79					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTGCATCCCTCGCAGTGCCCT	0.498																																						dbGAP											0													120.0	113.0	115.0					12																	107048049		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.235C>T	12.37:g.107048049C>T	ENSP00000376585:p.Arg79Cys		A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.R88C	ENST00000392842.1	37	c.262	CCDS9106.1	12	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927037	0.73327	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640	D;D;D	0.88046	-2.33;-2.33;-2.33	5.84	4.87	0.63330	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.93959	0.8066	M	0.87328	2.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.994	D	0.94555	0.7757	10	0.87932	D	0	-18.8659	15.7493	0.77969	0.2241:0.7759:0.0:0.0	.	88;88;79	Q33E94-2;Q33E94-4;Q33E94	.;.;RFX4_HUMAN	C	79;88;88;24	ENSP00000376585:R79C;ENSP00000350552:R88C;ENSP00000448694:R24C	ENSP00000266774:R88C	R	+	1	0	RFX4	105572179	0.998000	0.40836	0.999000	0.59377	0.990000	0.78478	3.735000	0.55044	2.779000	0.95612	0.655000	0.94253	CGC	RFX4	-	pfam_DNA-bd_RFX	ENSG00000111783		0.498	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	201	0.00	0	C	NM_032491		107048049	107048049	+1	no_errors	ENST00000357881	ensembl	human	known	69_37n	missense	185	25.10	62	SNP	0.954	T
RYR2	6262	genome.wustl.edu	37	1	237837413	237837413	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr1:237837413C>A	ENST00000366574.2	+	59	8925	c.8608C>A	c.(8608-8610)Ctg>Atg	p.L2870M	RYR2_ENST00000542537.1_Missense_Mutation_p.L2854M|RYR2_ENST00000360064.6_Missense_Mutation_p.L2868M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2870	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAACCATCCTCTGCTGGTGCC	0.423																																						dbGAP											0													115.0	110.0	112.0					1																	237837413		1937	4149	6086	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8608C>A	1.37:g.237837413C>A	ENSP00000355533:p.Leu2870Met		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.L2868M	ENST00000366574.2	37	c.8602	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122798	0.37436	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92199	-2.99;-2.99;-2.99	5.32	4.4	0.53042	Ryanodine receptor Ryr (1);	0.000000	0.48767	D	0.000175	D	0.91908	0.7438	L	0.33710	1.025	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.89931	0.4066	10	0.39692	T	0.17	.	8.1697	0.31247	0.0:0.7736:0.0:0.2264	.	2870	Q92736	RYR2_HUMAN	M	2870;2868;2854	ENSP00000355533:L2870M;ENSP00000353174:L2868M;ENSP00000443798:L2854M	ENSP00000353174:L2868M	L	+	1	2	RYR2	235904036	0.042000	0.20092	1.000000	0.80357	0.309000	0.27889	0.464000	0.21988	2.483000	0.83821	0.557000	0.71058	CTG	RYR2	-	pfam_Ryanodine_rcpt	ENSG00000198626		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	69	0.00	0	C	NM_001035		237837413	237837413	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	294	13.02	44	SNP	1.000	A
RGS7	6000	genome.wustl.edu	37	1	240990397	240990397	+	Splice_Site	SNP	C	C	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr1:240990397C>A	ENST00000407727.1	-	9	684		c.e9+1		RGS7_ENST00000331110.7_Splice_Site|RGS7_ENST00000446183.2_Splice_Site|RGS7_ENST00000366563.1_Splice_Site|RGS7_ENST00000366564.1_Splice_Site|RGS7_ENST00000366565.1_Splice_Site|RGS7_ENST00000348120.2_Splice_Site|RGS7_ENST00000366562.4_Splice_Site|RGS7_ENST00000401882.1_Splice_Site			P49802	RGS7_HUMAN	regulator of G-protein signaling 7						G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GACAGTTTTACCTTCCGTGTT	0.408																																						dbGAP											0													183.0	146.0	158.0					1																	240990397		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.684+1G>T	1.37:g.240990397C>A			Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Splice_Site	SNP	-	e9+1	ENST00000407727.1	37	c.684+1		1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138427	0.77775	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0171	0.71594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RGS7	239057020	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.347000	0.73004	2.631000	0.89168	0.655000	0.94253	.	RGS7	-	-	ENSG00000182901		0.408	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		24	0.00	0	C	NM_002924	Intron	240990397	240990397	-1	no_errors	ENST00000407727	ensembl	human	known	69_37n	splice_site	89	19.09	21	SNP	1.000	A
SEC24A	10802	genome.wustl.edu	37	5	134041046	134041046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr5:134041046delT	ENST00000398844.2	+	17	2758	c.2470delT	c.(2470-2472)tgtfs	p.C824fs		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	824					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATACTTTGTGTTTGCCAGT	0.373																																						dbGAP											0													248.0	225.0	233.0					5																	134041046		1889	4114	6003	-	-	-	SO:0001589	frameshift_variant	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2470delT	5.37:g.134041046delT	ENSP00000381823:p.Cys824fs		A8MVW3|Q8WUV2|Q96GP7	Frame_Shift_Del	DEL	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.C824fs	ENST00000398844.2	37	c.2470	CCDS43363.1	5																																																																																			SEC24A	-	pfam_Sec23_24_beta_S	ENSG00000113615		0.373	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	164	0.00	0	T			134041046	134041046	+1	no_errors	ENST00000398844	ensembl	human	known	69_37n	frame_shift_del	222	20.42	59	DEL	1.000	-
SERF2	10169	genome.wustl.edu	37	15	44085898	44085898	+	Intron	SNP	C	C	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr15:44085898C>G	ENST00000381359.1	+	5	1045				SERF2_ENST00000249786.4_Intron|HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409646.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000409291.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409960.2_Missense_Mutation_p.L81V|SERF2_ENST00000339624.5_Missense_Mutation_p.L44V|SERF2_ENST00000402131.1_Intron|SERF2_ENST00000403425.1_Intron|SERF2_ENST00000409614.1_Intron	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2							cytosol (GO:0005829)|nucleus (GO:0005634)				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CCCATCATCTCTACCCCCAGG	0.517																																						dbGAP											0													172.0	155.0	161.0					15																	44085898		2198	4298	6496	-	-	-	SO:0001627	intron_variant	0			AF073298	CCDS32218.1, CCDS55963.1, CCDS55964.1, CCDS55965.1	15q15.1	2008-01-18			ENSG00000140264	ENSG00000140264			10757	protein-coding gene	gene with protein product		605054				9731538	Standard	NM_001199876		Approved	H4F5rel, 4F5REL, FAM2C, HsT17089	uc010bdq.3	P84101	OTTHUMG00000059935	ENST00000381359.1:c.117-10C>G	15.37:g.44085898C>G			A6NL45|B5MCG1|B9A026|O75918|O88891|Q9BZH7	Missense_Mutation	SNP	pfam_Uncharacterised_SERF	p.L81V	ENST00000381359.1	37	c.241	CCDS32218.1	15	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246648	0.39697	.	.	ENSG00000140264	ENST00000409960;ENST00000339624	T;T	0.57595	0.39;0.58	5.97	5.97	0.96955	.	.	.	.	.	T	0.45236	0.1332	N	0.08118	0	0.80722	D	1	D	0.55385	0.971	P	0.51516	0.672	T	0.52275	-0.8597	9	0.59425	D	0.04	.	15.924	0.79597	0.0:1.0:0.0:0.0	.	81	B9A026	.	V	81;44	ENSP00000387187:L81V;ENSP00000339647:L44V	ENSP00000339647:L44V	L	+	1	2	SERF2	41873190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.824000	0.62701	2.828000	0.97474	0.655000	0.94253	CTA	SERF2	-	NULL	ENSG00000140264		0.517	SERF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERF2	HGNC	protein_coding	OTTHUMT00000133233.2	108	0.00	0	C	NM_005770		44085898	44085898	+1	no_errors	ENST00000409960	ensembl	human	putative	69_37n	missense	91	27.20	34	SNP	1.000	G
THEMIS	387357	genome.wustl.edu	37	6	128222041	128222041	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr6:128222041C>G	ENST00000368248.2	-	1	185	c.37G>C	c.(37-39)Gac>Cac	p.D13H	THEMIS_ENST00000537166.1_Intron|THEMIS_ENST00000543064.1_Missense_Mutation_p.D13H|THEMIS_ENST00000368250.1_5'UTR	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	13	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D13N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GTCCTGAGGTCAAGGGAGTGG	0.473																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											236.0	229.0	232.0					6																	128222041		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.37G>C	6.37:g.128222041C>G	ENSP00000357231:p.Asp13His		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	NULL	p.D13H	ENST00000368248.2	37	c.37	CCDS34534.1	6	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517668	0.44763	.	.	ENSG00000172673	ENST00000543064;ENST00000368248	T;T	0.24151	1.91;1.87	5.55	4.49	0.54785	.	0.206543	0.39544	N	0.001340	T	0.35393	0.0930	M	0.72118	2.19	0.80722	D	1	D;D	0.69078	0.997;0.995	D;P	0.63192	0.912;0.831	T	0.13415	-1.0510	10	0.87932	D	0	-6.7731	10.1703	0.42906	0.0:0.894:0.0:0.106	.	13;13	F5H1J9;Q8N1K5	.;THMS1_HUMAN	H	13	ENSP00000439594:D13H;ENSP00000357231:D13H	ENSP00000357231:D13H	D	-	1	0	THEMIS	128263734	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	2.632000	0.46511	2.610000	0.88304	0.591000	0.81541	GAC	THEMIS	-	NULL	ENSG00000172673		0.473	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding		271	0.00	0	C	NM_001010923		128222041	128222041	-1	no_errors	ENST00000543064	ensembl	human	known	69_37n	missense	630	14.82	110	SNP	0.996	G
TOPORS	10210	genome.wustl.edu	37	9	32544087	32544087	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr9:32544087C>G	ENST00000360538.2	-	3	552	c.436G>C	c.(436-438)Gat>Cat	p.D146H	TOPORS_ENST00000379858.1_Missense_Mutation_p.D81H	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	146	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AAAATAGAATCAAAGGGCTGT	0.423																																						dbGAP											0													142.0	125.0	131.0					9																	32544087		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.436G>C	9.37:g.32544087C>G	ENSP00000353735:p.Asp146His		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D146H	ENST00000360538.2	37	c.436	CCDS6527.1	9	.	.	.	.	.	.	.	.	.	.	C	8.902	0.956561	0.18507	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.68025	-0.3;-0.3	5.33	3.31	0.37934	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.49305	D	0.000144	T	0.37461	0.1004	N	0.04669	-0.19	0.32568	N	0.530141	B	0.12013	0.005	B	0.08055	0.003	T	0.38243	-0.9670	10	0.10377	T	0.69	-9.4149	9.0538	0.36392	0.1353:0.4393:0.4254:0.0	.	146	Q9NS56	TOPRS_HUMAN	H	146;81	ENSP00000353735:D146H;ENSP00000369187:D81H	ENSP00000353735:D146H	D	-	1	0	TOPORS	32534087	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	1.789000	0.38724	1.364000	0.46038	-0.176000	0.13171	GAT	TOPORS	-	NULL	ENSG00000197579		0.423	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOPORS	HGNC	protein_coding	OTTHUMT00000052007.1	88	0.00	0	C	NM_005802		32544087	32544087	-1	no_errors	ENST00000360538	ensembl	human	known	69_37n	missense	109	38.42	68	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7579364	7579364	+	Frame_Shift_Del	DEL	C	C	-	rs587783063		TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr17:7579364delC	ENST00000269305.4	-	4	512	c.323delG	c.(322-324)ggtfs	p.G108fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.G108fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G108fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.G108fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.G108fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.G108fs	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	108	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> D (in a sporadic cancer; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.G108del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.?_?ins?(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G108D(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)	CAGACGGAAACCGTAGCTGCC	0.617		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"""	29	Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(2)|Insertion - In frame(1)|Substitution - Missense(1)	upper_aerodigestive_tract(5)|breast(5)|bone(4)|large_intestine(3)|ovary(3)|central_nervous_system(2)|lung(2)|liver(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)											61.0	59.0	60.0					17																	7579364		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.323delG	17.37:g.7579364delC	ENSP00000269305:p.Gly108fs		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.G108fs	ENST00000269305.4	37	c.323	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	220	0.00	0	C	NM_000546		7579364	7579364	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	84	55.94	113	DEL	0.910	-
TPR	7175	genome.wustl.edu	37	1	186303578	186303578	+	Silent	SNP	A	A	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr1:186303578A>T	ENST00000367478.4	-	36	5357	c.5061T>A	c.(5059-5061)gcT>gcA	p.A1687A		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1687					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACTTATTTCCAGCCATAGCTG	0.488			T	NTRK1	papillary thyroid																																	dbGAP		Dom	yes		1	1q25	7175	translocated promoter region		E	0													168.0	170.0	169.0					1																	186303578		1954	4145	6099	-	-	-	SO:0001819	synonymous_variant	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5061T>A	1.37:g.186303578A>T			Q15655|Q5SWY0|Q99968	Silent	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.A1687	ENST00000367478.4	37	c.5061	CCDS41446.1	1																																																																																			TPR	-	NULL	ENSG00000047410		0.488	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	149	0.00	0	A	NM_003292		186303578	186303578	-1	no_errors	ENST00000367478	ensembl	human	known	69_37n	silent	201	17.28	42	SNP	0.997	T
TSC1	7248	genome.wustl.edu	37	9	135771828	135771828	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr9:135771828G>A	ENST00000298552.3	-	23	3510	c.3289C>T	c.(3289-3291)Cgt>Tgt	p.R1097C	TSC1_ENST00000440111.2_Missense_Mutation_p.R1097C|TSC1_ENST00000545250.1_Missense_Mutation_p.R1046C	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1097			R -> H (rare polymorphism; no effect on expression; no effect on inhibition of TORC1 signaling). {ECO:0000269|PubMed:18830229}.		activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTCTTATTACGAAATAACTCT	0.522			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													dbGAP	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)											115.0	102.0	106.0					9																	135771828		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.3289C>T	9.37:g.135771828G>A	ENSP00000298552:p.Arg1097Cys		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.R1097C	ENST00000298552.3	37	c.3289	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546914	0.86022	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.90261	-2.64;-2.64;-2.49	5.59	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.94460	0.8217	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	D	0.94774	0.7947	10	0.87932	D	0	-13.014	15.0004	0.71466	0.0:0.0:0.8574:0.1426	.	1046;1097	B7Z897;Q92574	.;TSC1_HUMAN	C	1097;1097;1046	ENSP00000298552:R1097C;ENSP00000394524:R1097C;ENSP00000444017:R1046C	ENSP00000298552:R1097C	R	-	1	0	TSC1	134761649	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.783000	0.91813	2.625000	0.88918	0.563000	0.77884	CGT	TSC1	-	NULL	ENSG00000165699		0.522	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	84	0.00	0	G			135771828	135771828	-1	no_errors	ENST00000298552	ensembl	human	known	69_37n	missense	69	27.37	26	SNP	1.000	A
TTC14	151613	genome.wustl.edu	37	3	180327846	180327846	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr3:180327846G>A	ENST00000296015.4	+	12	1961	c.1829G>A	c.(1828-1830)aGt>aAt	p.S610N	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	610							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CAAGCAGGTAGTAGCAAAACA	0.373																																						dbGAP											0													119.0	142.0	134.0					3																	180327846		2198	4298	6496	-	-	-	SO:0001583	missense	0			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1829G>A	3.37:g.180327846G>A	ENSP00000296015:p.Ser610Asn		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	pfam_TPR-1,superfamily_NA-bd_OB-fold-like,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.S610N	ENST00000296015.4	37	c.1829	CCDS3237.1	3	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511886	0.44660	.	.	ENSG00000163728	ENST00000296015	T	0.19669	2.13	6.06	6.06	0.98353	.	0.219695	0.51477	D	0.000093	T	0.30759	0.0775	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	P	0.59948	0.866	T	0.01013	-1.1481	10	0.66056	D	0.02	-7.9086	11.8391	0.52344	0.067:0.1245:0.8084:0.0	.	610	Q96N46	TTC14_HUMAN	N	610	ENSP00000296015:S610N	ENSP00000296015:S610N	S	+	2	0	TTC14	181810540	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	1.747000	0.38298	2.882000	0.98803	0.655000	0.94253	AGT	TTC14	-	NULL	ENSG00000163728		0.373	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC14	HGNC	protein_coding	OTTHUMT00000349786.1	215	0.00	0	G	NM_133462		180327846	180327846	+1	no_errors	ENST00000296015	ensembl	human	known	69_37n	missense	311	22.25	89	SNP	1.000	A
TTC19	54902	genome.wustl.edu	37	17	15929879	15929881	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	CTA	CTA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr17:15929879_15929881delCTA	ENST00000261647.5	+	9	1326_1328	c.857_859delCTA	c.(856-861)gctact>gct	p.T288del	TTC19_ENST00000486880.2_In_Frame_Del_p.T409del|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	288					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTGACCTGGCTACTACCCTGGA	0.414																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.857_859delCTA	17.37:g.15929882_15929884delCTA	ENSP00000261647:p.Thr288del		A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	In_Frame_Del	DEL	smart_TPR_repeat,pfscan_TPR-contain_dom	p.T409in_frame_del	ENST00000261647.5	37	c.1220_1222	CCDS11174.2	17																																																																																			TTC19	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000011295		0.414	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	TTC19	HGNC	protein_coding	OTTHUMT00000131725.6	146	0.00	0	CTA	NM_017775		15929879	15929881	+1	no_errors	ENST00000261647	ensembl	human	novel	69_37n	in_frame_del	58	56.06	74	DEL	1.000:0.814:0.997	-
URB2	9816	genome.wustl.edu	37	1	229783409	229783409	+	Silent	SNP	C	C	G			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr1:229783409C>G	ENST00000258243.2	+	7	4195	c.4059C>G	c.(4057-4059)gtC>gtG	p.V1353V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1353						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTCTCACTGTCCCTTTGGACC	0.597																																						dbGAP											0													112.0	95.0	101.0					1																	229783409		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4059C>G	1.37:g.229783409C>G			Q5VYC9	Silent	SNP	pfam_Urb2/Npa2_C	p.V1353	ENST00000258243.2	37	c.4059	CCDS31052.1	1																																																																																			URB2	-	pfam_Urb2/Npa2_C	ENSG00000135763		0.597	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	103	0.00	0	C	NM_014777		229783409	229783409	+1	no_errors	ENST00000258243	ensembl	human	known	69_37n	silent	163	13.30	25	SNP	0.982	G
ZNF445	353274	genome.wustl.edu	37	3	44496857	44496857	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr3:44496857C>T	ENST00000396077.2	-	3	532	c.185G>A	c.(184-186)cGc>cAc	p.R62H	ZNF445_ENST00000425708.2_Missense_Mutation_p.R62H	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	62	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTCATGGTAGCGAAGCTGTCT	0.587																																						dbGAP											0													77.0	83.0	81.0					3																	44496857		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.185G>A	3.37:g.44496857C>T	ENSP00000379387:p.Arg62His		Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R62H	ENST00000396077.2	37	c.185	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000813	0.74818	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	T;T	0.04317	3.65;3.65	4.45	3.57	0.40892	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.200648	0.25951	N	0.027260	T	0.13243	0.0321	L	0.52759	1.655	0.36597	D	0.874465	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.07693	-1.0759	10	0.42905	T	0.14	.	8.4226	0.32710	0.0:0.8931:0.0:0.1069	.	62;62	B7ZKX2;P59923	.;ZN445_HUMAN	H	62;62;59;61	ENSP00000413073:R62H;ENSP00000379387:R62H	ENSP00000342436:R59H	R	-	2	0	ZNF445	44471861	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	0.678000	0.25277	1.228000	0.43614	0.563000	0.77884	CGC	ZNF445	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000185219		0.587	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	122	0.00	0	C	NM_181489		44496857	44496857	-1	no_errors	ENST00000396077	ensembl	human	known	69_37n	missense	76	48.99	73	SNP	1.000	T
ZSCAN25	221785	genome.wustl.edu	37	7	99227257	99227258	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr7:99227257_99227258delCA	ENST00000394152.2	+	8	1576_1577	c.1249_1250delCA	c.(1249-1251)cacfs	p.H417fs	ZSCAN25_ENST00000334715.3_Frame_Shift_Del_p.H417fs|ZSCAN25_ENST00000262941.6_Frame_Shift_Del_p.H345fs|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	417					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCAGAGACACCACCTGGAGGTG	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1249_1250delCA	7.37:g.99227257_99227258delCA	ENSP00000377708:p.His417fs		A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Frame_Shift_Del	DEL	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H417fs	ENST00000394152.2	37	c.1249_1250	CCDS5671.2	7																																																																																			ZNF498	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197037		0.604	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF498	HGNC	protein_coding	OTTHUMT00000157203.4	89	0.00	0	CA	NM_145115		99227257	99227258	+1	no_errors	ENST00000334715	ensembl	human	known	69_37n	frame_shift_del	76	29.36	32	DEL	0.986:1.000	-
ZSCAN25	221785	genome.wustl.edu	37	7	99227260	99227260	+	Missense_Mutation	SNP	C	C	G	rs555602793		TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr7:99227260C>G	ENST00000394152.2	+	8	1579	c.1252C>G	c.(1252-1254)Ctg>Gtg	p.L418V	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.L418V|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.L346V|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	418					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAGACACCACCTGGAGGTGCA	0.607																																						dbGAP											0													46.0	47.0	47.0					7																	99227260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1252C>G	7.37:g.99227260C>G	ENSP00000377708:p.Leu418Val		A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L418V	ENST00000394152.2	37	c.1252	CCDS5671.2	7	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404046	0.62288	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.52983	0.64;0.64;0.64	3.93	3.05	0.35203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37483	N	0.002073	T	0.68906	0.3052	M	0.87758	2.905	0.38160	D	0.938999	D;D	0.76494	0.998;0.999	D;D	0.83275	0.992;0.996	T	0.75385	-0.3336	10	0.87932	D	0	-15.0936	9.6961	0.40158	0.0:0.8956:0.0:0.1044	.	346;418	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	V	418;418;346	ENSP00000377708:L418V;ENSP00000334800:L418V;ENSP00000262941:L346V	ENSP00000262941:L346V	L	+	1	2	ZNF498	99065196	0.911000	0.30947	0.877000	0.34402	0.879000	0.50718	1.956000	0.40382	1.230000	0.43646	0.561000	0.74099	CTG	ZNF498	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197037		0.607	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF498	HGNC	protein_coding	OTTHUMT00000157203.4	91	0.00	0	C	NM_145115		99227260	99227260	+1	no_errors	ENST00000334715	ensembl	human	known	69_37n	missense	72	33.33	36	SNP	1.000	G
ZNF609	23060	genome.wustl.edu	37	15	64915059	64915059	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AJ-01A-11W-A019-09	TCGA-AN-A0AJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97fbce82-0eed-4d70-9af2-57918a4ea8da	4450b82b-beee-4327-a851-3b7488a3273c	g.chr15:64915059C>T	ENST00000326648.3	+	2	909	c.781C>T	c.(781-783)Cca>Tca	p.P261S		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	261						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCAGTGCTGCCAATACACCT	0.478																																						dbGAP											0													192.0	174.0	180.0					15																	64915059		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.781C>T	15.37:g.64915059C>T	ENSP00000316527:p.Pro261Ser		Q0D2I2	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.P261S	ENST00000326648.3	37	c.781	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036840	0.93630	.	.	ENSG00000180357	ENST00000326648	T	0.60171	0.21	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.75642	0.3877	M	0.72894	2.215	0.80722	D	1	D	0.62365	0.991	D	0.69479	0.964	T	0.74380	-0.3684	10	0.44086	T	0.13	-7.3555	19.6299	0.95698	0.0:1.0:0.0:0.0	.	261	O15014	ZN609_HUMAN	S	261	ENSP00000316527:P261S	ENSP00000316527:P261S	P	+	1	0	ZNF609	62702112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.453000	0.80700	2.639000	0.89480	0.655000	0.94253	CCA	ZNF609	-	NULL	ENSG00000180357		0.478	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	283	0.00	0	C	XM_042833		64915059	64915059	+1	no_errors	ENST00000326648	ensembl	human	known	69_37n	missense	207	20.08	52	SNP	1.000	T
